Thrombocytopenia

Basic details

Preferred term: Thrombocytopenia
Alt. terms: Low platelet count

HPO term: Thrombocytopenia
HPO code: HP:0001873

GenIA ID: 143
Last updated on: 2024-04-25 14:48:58

Cross ref. with other ontologies

NCIT: C3408
MESH: D013921
EFO: -
OAE: -
SNOMEDCT: -
ICD10: D69.6

Description

An abnormally small number of platelets in the circulating blood. Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101015 M 210203 17,17 German Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]
101021 M 210359 57 German Thrombocytopenia PMID:34975878 [Fam.F006:P006]
101025 M 210937 59 Thrombocytopenia PMID:34975878 [Fam.F010:P010]
101040 F 210724tree icon 9,9 Caucasian Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101043 M 210725tree icon - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101045 M 210205tree icon 19 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)]
101051 F 210205tree icon 26 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]
101062 M 212603tree icon 0 South Asian Thrombocytopenia ARPC1B deficiency PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)]
101077 F 210211 25 German Thrombocytopenia PMID:34975878 [Fam.F043:P043]
101090 M 211257 15 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]
101091 M 210911 15 Autoimmune thrombocytopenia DiGeorge syndrome PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180]
101093 M 211289 37 German Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4]
101119 M 210264 - Autoimmune thrombocytopenia PMID:34975878 [Fam.F070:P070]
101120 M 210221 25 German Thrombocytopenia PMID:34975878 [Fam.F071:P071]
101125 M 210429 40 German Thrombocytopenia Immunodeficiency, common variable, 1 PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060]
101127 F 210318 39 German Autoimmune thrombocytopenia PMID:34975878 [Fam.F077:P077]
101128 M 210897 21 Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07]
101131 F 210337 61 German Thrombocytopenia PMID:34975878 [Fam.F080:P080]
101133 M 210896 31 Autoimmune thrombocytopenia Immunodeficiency, common variable, 13 PMID:34975878 [Fam.F082:P082]
101134 F 210901 8 Autoimmune thrombocytopenia PMID:34975878 [Fam.F083:P083]
101135 F 210574 19 Autoimmune thrombocytopenia PMID:34975878 [Fam.F084:P084]
101145 M 211221tree icon 11 German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)]
101150 F 210736 7 Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F093:P093]
101151 M 210938 50 Autoimmune thrombocytopenia PMID:34975878 [Fam.F094:P094]
101157 F 211016 37 Autoimmune thrombocytopenia PMID:34975878 [Fam.F099:P099]
101178 M 210542 17 Autoimmune thrombocytopenia PMID:34975878 [Fam.F114:P114]
101204 M 211492 - German Thrombocytopenia PMID:34975878 [Fam.F126:P126]
101207 F 211502 56 Autoimmune thrombocytopenia PMID:34975878 [Fam.F130:P130]
101235 M 210135 1 Arab Autoimmune thrombocytopenia PMID:22608502 [Fam.A:I.1]
101260 M 212144 2 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14]
101287 F 212146 13 Saudi Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9]
101295 M 212146 - Saudi Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6]
101296 M 210135 1 Arab Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1]
101325 M 212150 3 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28473463 [Fam.1:II.4]
101328 M 212151 - Moroccan Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28473463 [Fam.2:II.1(2.2)]
101343 M 210134 16 Italian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3]
101351 M 212155 - Egyptian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:28473463 [Fam.6:II.3]
101356 F 210135 1 Arab Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2]
101364 F 212159 - North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27379089 [P13]
101365 M 212160 - North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27379089 [P14]
101371 M 212161 - Turkish Thrombocytopenia Immunodeficiency, common variable, 8 PMID:30479781 [Fam.P1:V.2(P2)]
101375 F 212162 13 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8]
101376 F 212162 11 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9]
101384 M 210217 - German Thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S]
101385 M 210567 40 German Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F135:P135]; PMID:31857261 [Patient 9]
101386 F 212164 4 Pakistani Thrombocytopenia Immunodeficiency, common variable, 8 PMID:22981790 [P1(II.1)]; PMID:26707784 [P11]
101388 M 212165 3 Palestinian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20]
101389 M 212166 7 Palestinian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:25931386 [Fam.2:II.1(P2)]; PMID:26707784 [P21]
101391 F 211018 10 Autoimmune thrombocytopenia PMID:34975878 [Fam.F137:P137]
101392 M 212166 2 Palestinian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:25931386 [Fam.2:II.3(P4)]; PMID:26707784 [P23]
101404 M 210348 19 Thrombocytopenia PMID:34975878 [Fam.F139:P139]
101408 M 212168 5 Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27057999 [Fam.II.2:II.1]
101416 M 212169 10 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27146671 [Patient(II.1)]
101426 M 212173 2 Iranian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7]
101435 F 212171 4 Lebanese Thrombocytopenia Immunodeficiency, common variable, 8 PMID:26707784 [P29(II.1)]
101441 M 212174 7 North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26206937 [P6]
101443 M 212175 - North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26206937 [P7]
101452 M 212394 2 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33]
101454 M 210192 19 Autoimmune thrombocytopenia Immunodeficiency, common variable, 13 PMID:31057532 [Fam.A:II.1]
101458 F 210656tree icon 12 Georgian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)]
101461 M 210929 - German Thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27]
101469 F 210220tree icon 16 German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)]
101473 F 212398 2 Spanish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:30386343 [Patient(II.1)]
101479 F 210314tree icon - German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)]
101491 F 212457 - Hungarian Autoimmune thrombocytopenia Severe combined immunodeficiency 9A, T-B- PMID:29410113 [Patient(II.1)]
101505 M 210309 - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F170:P170]
101537 M 210949 31 Autoimmune thrombocytopenia PMID:34975878 [Fam.F178:P178]
101553 M 210256 - German Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F182:P182]
101569 F 210220tree icon - German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023]
101573 F 210707 4 Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F196:P196]
101575 M 210900 - German Thrombocytopenia Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2]
101579 F 210773 - Turkish Thrombocytopenia Adenosine deaminase 2 deficiency PMID:28493328 [P1]; PMID:31857261 [Patient 13]
101592 M 212605tree icon 0 Moroccan Thrombocytopenia ARPC1B deficiency PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient]
101596 M 212618tree icon 1 Jewish Thrombocytopenia ARPC1B deficiency PMID:29127144 [P1(II.1)]
101597 M 212618tree icon 0 Jewish Thrombocytopenia ARPC1B deficiency PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6]
101601 M 212619tree icon - Italian Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2]
101604 M 212620tree icon - Italian Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1]
101611 M 212622tree icon - Colombian Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.D:II.4(P4)]
101613 F 210737 9 Thrombocytopenia PMID:34975878 [Fam.F210:P210]
101628 F 210955 14 Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217]
101631 F 212624tree icon - Turkish Thrombocytopenia ARPC1B deficiency PMID:30254128 [Fam.F:II.1(P6)]
101656 F 211483 15 German Autoimmune thrombocytopenia PMID:34975878 [Fam.F227:P227]
101671 F 212632tree icon 4 Iranian Thrombocytopenia ARPC1B deficiency PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2]
101674 F 212632tree icon 10 Iranian Thrombocytopenia ARPC1B deficiency PMID:30771411 [Fam.P7:V.1(P8)]
101690 F 212636tree icon 15 Jordanian Thrombocytopenia ARPC1B deficiency PMID:30771411 [P13(IV.5)]
101717 F 210260tree icon 9 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]
101720 F 210022 2 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12]
101748 F 210573 - Autoimmune thrombocytopenia PMID:34975878 [Fam.F248:P248]
101753 M 210024 - Japanese Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.1(P10)]
101754 M 210024 - Japanese Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.2(P11)]
101755 M 210025 5 North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
101756 F 210025 4 North American Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)]
101767 F 210788 48 Autoimmune thrombocytopenia PMID:34975878 [Fam.F249:P249]
101768 M 210789 31 Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F250:P250]
101772 M 210034 3 Iranian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17]
101775 M 210908tree icon - Argentinian Thrombocytopenia Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P9:II.2(P10)]
101778 M 210920 5 Libyan Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:26745254 [Fam.P1:II.3(P2)]
101792 M 210991 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.11(NN.II.9(92))]
101800 M 215769tree icon - Caucasian Thrombocytopenia NFKB1 insufficiency PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)]
101808 F 211441 - Thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F265:P265]
101849 F 211636 - Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F311:P311]
101877 M 211741 42 Autoimmune thrombocytopenia PMID:34975878 [Fam.F321:P321]
101915 F 211935 32 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F341:P341]
102175 M 210725tree icon 10 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102216 F 214916tree icon 3 Belgian Thrombocytopenia Severe congenital neutropenia 11 PMID:32325141 [Patient(II.1)]
102222 M 214917 28,28 German Autoimmune thrombocytopenia,Thrombocytopenia NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102229 F 214922tree icon - Thrombocytopenia ARPC1B deficiency PMID:32499645 [Fam.ARPC1B:II.1]
102260 F 214926tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
102357 M 214937tree icon 1 German Thrombocytopenia Otofaciocervical syndrome 2 PMID:32111619 [Fam.A:II.1(P1)]
102368 F 214938tree icon 0 Afghanistani Thrombocytopenia Stuve-Wiedemann syndrome 2 PMID:31914175 [Fam.A:II.2]
102463 M 214961tree icon 21 European Thrombocytopenia Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.H:II.1(P12)]
102626 M 214969tree icon - Filipino Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.1:II.1(P1)]
102633 M 214971tree icon - European Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.3:II.1(P3)]
102637 M 214972tree icon 17 Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.4:II.2(P4)]
102641 M 214973tree icon 5,6 European Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.5:II.2(P5)]
102645 M 214974tree icon 1 Caucasian Thrombocytopenia Immunodeficiency 98 with autoinflammation PMID:33512449 [Fam.6:II.1(P6)]
102730 M 214981tree icon 0 Canadian Thrombocytopenia Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)]
102731 F 214982tree icon 2 Colombian Autoimmune thrombocytopenia Immunodeficiency 99 PMID:32484799 [Patient(II.2)]
102786 F 214988tree icon 23 Turkish Thrombocytopenia Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
102865 F 214996tree icon - Italian Thrombocytopenia ARPC1B deficiency | Hartnup disease PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)]
102884 M 215004tree icon 1 Admixed Thrombocytopenia T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8]
102901 F 215008tree icon 0 Brasilian Thrombocytopenia T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:35064468 [patient(II.2)]
102933 M 215034 - Thrombocytopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P22]; PMID:37419334 [P22(22)]
102984 F 215074tree icon 9 European/American Thrombocytopenia Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
102987 F 215075tree icon 14 Austrian Thrombocytopenia Immunodeficiency 97 PMID:33054089 [Patient(II.1)]
103076 F 215099tree icon 2 Omani Thrombocytopenia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103172 M 215105tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.1:II.2(II-2)]
103174 F 215105tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.1:I.2]
103178 M 215106tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.2:II.2(II-2)]
103182 M 215106tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.2:II.3]
103194 F 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:V.2(V-2)]
103198 F 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:II.2(II-2)]
103208 F 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:III.5(III-5)]
103218 F 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:IV.3]
103222 M 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:IV.7(IV-7)]
103235 M 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:V.3(V-3)]
103236 F 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:V.4(V-4)]
103237 F 215107tree icon - Japanese Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:28815995 [Fam.1:V.5(V-5)]
103238 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:IV.5(17)]
103242 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:II.2(4)]
103243 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:II.3(5)]
103246 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:III.2(8)]
103248 M 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:III.4(10)]
103249 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:III.5(11)]
103252 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:IV.2(14)]
103253 M 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:IV.3(15)]
103254 F 215108tree icon - French Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.1:IV.4(16)]
103257 F 215109tree icon - British Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.2:I.2(21)]
103259 M 215105tree icon - German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.1:III.1]
103261 M 215109tree icon - British Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.2:II.1(22)]
103263 M 215109tree icon - British Macrothrombocytopenia Deafness 1, with or without thrombocytopenia PMID:26912466 [Fam.2:II.3(24)]
103276 M 215106tree icon 4 German Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:27808407 [Fam.2:III.1]
103351 M 215121tree icon 35,35 North American Macrothrombocytopenia,Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [P1(III.1)]
103353 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:I.2]
103355 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:II.2]
103356 M 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:II.3]
103357 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:II.4]
103360 F 215121tree icon - North American Thrombocytopenia Deafness 1, with or without thrombocytopenia PMID:32594080 [Fam.P1:IV.1]
103459 M 215131tree icon 1,4 Omani Autoimmune thrombocytopenia,Thrombocytopenia infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.3:II.1(P3)]
103462 F 215132tree icon 0 Moroccan Thrombocytopenia ARPC1B deficiency PMID:35767111 [P4(II.2)]
103538 F 215155tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.B:II.2(P3)]
103541 M 215155tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.B:II.1(P4)]
103542 M 215156tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.C:II.3(P5)]
103547 M 215157tree icon - Mexican Thrombocytopenia ARPC1B deficiency PMID:36708766 [Fam.D:II.4(P6)]
103851 M 215261tree icon - British Autoimmune thrombocytopenia Adenosine deaminase 2 deficiency PMID:24552284 [Fam.6:II.2(P6)]
103858 M 215262tree icon - Turkish Thrombocytopenia Adenosine deaminase 2 deficiency PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)]
103997 M 215318tree icon - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P1]; PMID:30092289 [P16]
103998 M 215319tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P2]
103999 M 215320tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P3]
104000 M 215321 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P4]
104003 F 215324 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P7]
104004 F 215325 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P8]
104005 F 215326tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4]
104008 F 215326tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.1:II.2(P11)]
104011 M 215327tree icon - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.2:I.2(P13)]
104237 M 215421tree icon 0 European/American Thrombocytopenia Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1]
104351 M 215490 10 Caucasian Thrombocytopenia Hyper-IgE recurrent infection syndrome 1 PMID:26292779 [H1]
104398 M 215522tree icon 0 Czech Thrombocytopenia Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
104519 F 215537 0 Gypsy Autoimmune thrombocytopenia ARPC1B deficiency PMID:31379835 [P1]
104520 M 215537 - Gypsy Autoimmune thrombocytopenia ARPC1B deficiency PMID:31379835 [Fam.P1:II.2(P2)]
104521 F 215538 - Gypsy Autoimmune thrombocytopenia ARPC1B deficiency PMID:31379835 [P3]
104522 F 215539 1 Gypsy Thrombocytopenia ARPC1B deficiency PMID:31379835 [P4]
104523 F 215540 - Turkish Thrombocytopenia Immunodeficiency 91 and hyperinflammation PMID:34708404 [Fam.1:II.1(P1)]
104532 M 215544tree icon 3 Caucasian Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.A:II.1(Patient A)]
104534 M 215546tree icon 3 Caucasian Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.C:II.1(Patient C)]
104539 M 215548tree icon 3 Algerian Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.E:II.1(Patient E)]
104540 M 215549tree icon - North African Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104541 M 215550tree icon 13 North African Autoimmune thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.G:II.1(Patient G)]
104607 M 215556tree icon - Thrombocytopenia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104671 F 215568tree icon 0 Lebanese Autoimmune thrombocytopenia Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104685 F 215571tree icon 0 Iranian Thrombocytopenia Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.6(VI.5)]
104713 M 215571tree icon 0 Iranian Thrombocytopenia Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.5(VI.4)]
104786 F 215573tree icon 2 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104787 M 215573tree icon -,- Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)]
104790 M 215574tree icon 28 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]
104791 M 215575tree icon 15 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104796 M 215577tree icon - Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)]
104797 M 215577tree icon - Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104838 M 215578tree icon 11 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]
104842 M 215579tree icon 2,- European Autoimmune thrombocytopenia,Thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)]
104844 F 215579tree icon - European Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.NZ:I.2(I.2)]; PMID:26279205 [Fam.NZ:I.2(I2)]; PMID:29403474 [Fam.NZ (5):I.2(I2)]; PMID:29806948 [Fam.NZ:I.2(I.2)]; PMID:30323807 [Fam.2:I.2(I.2)]; PMID:150198 [Fam.AC:I.2(107)]
104916 M 215613tree icon 7 Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)]
104932 F 215622tree icon - Dutch Thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)]
105034 F 215628tree icon - Finnish Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105040 M 215629tree icon - Turkish Autoimmune thrombocytopenia Immunodeficiency 114 PMID:36745868 [Fam.1:II.2(P2)]
105043 F 215630tree icon - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105045 M 215631tree icon - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P10]
105046 M 215632tree icon 4 Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Fam.1:II.1(Patient 1)]
105050 F 215633 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Patient 2]
105051 F 215634tree icon 14 Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:29180260 [Patient(II.1)]
105057 F 215635tree icon - German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)]
105088 M 215638 23 Japanese Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]
105093 F 215639tree icon - Israeli Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)]
105105 F 215643tree icon 15 Caucasian Thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)]
105111 F 215645 - Autoimmune thrombocytopenia NFKB1 insufficiency PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146]
105142 M 210314tree icon - German Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)]
105162 M 215658tree icon - Australian Thrombocytopenia Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.N:II.1(110)]; PMID:38630025 [Fam.1:II.1(Patient 1)]
105172 M 215659 - Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)]
105175 M 215660 10 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)]
105176 F 215661 4 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)]
105190 F 215664 1 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.1(7)]
105192 M 215664 - Autoimmune thrombocytopenia PMID:27102614 [Fam.F:I.1(father)]
105194 M 215665tree icon 2,2 Iranian Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency, common variable, 8 PMID:27888588 [Case(II.1)]
105241 M 215673 - Kuwaiti Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:27760045 [P3(II.1)]
105246 M 215674tree icon 9 Caucasian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)]
105248 F 215676 6 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28956255 [P2(II.1)]
105249 M 215676 3 Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28956255 [Fam.P2:II.2]
105251 M 215678 - Thrombocytopenia Combined immunodeficiency 36 PMID:33876203 [P1(II.1)]
105308 F 215687tree icon - European Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)]
105313 M 215688tree icon 6 European Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)]
105316 U 215691 - European Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267]
105332 U 215694 24 European Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285]
105335 U 215697 - European Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288]
105337 U 215699 - European Thrombocytopenia NFKB1 insufficiency PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268]
105350 M 215712 2 Omani Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28690850 [P1]
105355 M 215717 7 Caucasian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28197149 [P1(II.1)]
105362 M 215721tree icon 2 Iraqi Thrombocytopenia Immunodeficiency 87 PMID:31308374 [Fam.B:II.1(P3)]
105363 F 215722 - Afro-American Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]
105385 M 215736 3 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:29183106 [P7]
105386 F 215737 13 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:29183106 [Patient 8]
105398 F 215749 0,- Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency, common variable, 8 PMID:31389321 [Patient 1]
105403 M 215754 10 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:32915433 [Patient 1]
105410 M 215760 0 Indian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:33713070 [Case1]
105412 F 215762tree icon 11,33 Caucasian Autoimmune thrombocytopenia,Thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)]
105424 M 215766tree icon 1 Admixed Thrombocytopenia Adenosine deaminase 2 deficiency PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)]
105450 F 215770tree icon - Caucasian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150]
105471 M 215775tree icon 2 Filipino Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T]
105475 F 215776tree icon - European Thrombocytopenia Ezrin immunodeficiency PMID:37301410 [P1(II.4)]
105528 F 215788 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P6]
105529 M 215789 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P7]
105530 F 215790 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P8]
105533 M 215791 35,9 Portuguese Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29225858 [Patient(I.1)]
105543 M 215797 30 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:28983403 [P7]
105549 F 215801 15 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105562 M 215805 15 Turkish Thrombocytopenia Immunodeficiency, common variable, 8 PMID:31026575 [P1]; PMID:31432443 [P4]
105563 F 215806 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31026575 [P2]; PMID:31432443 [P6(II.1)]
105564 M 215807tree icon 10 Spanish Autoimmune thrombocytopenia 4q24 deletion syndrome PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)]
105571 U 215810 - Thrombocytopenia Activated p110-delta syndrome 1 PMID:24698326 [P3]
105572 M 215811 16 South Asian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32154999 [Patient]
105574 U 215813 - Thrombocytopenia Activated p110-delta syndrome 1 PMID:24698326 [P5]
105587 F 215820 - Caucasian Autoimmune thrombocytopenia Activated p110-delta syndrome 1 PMID:24610295 [Fam.1:II.1(F1P1)]
105616 F 215822 - Caucasian Thrombocytopenia Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:II.4(P1)]
105617 F 215822 - Caucasian Thrombocytopenia PMID:25352054 [Fam.1:I.1(I.1)]
105660 F 215836 - Thrombocytopenia Activated p110-delta syndrome 1 PMID:26437962 [Fam.A:II.3(Sibling 3)]
105679 M 215839tree icon 11 Caucasian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)]
105778 F 215871tree icon 7 Spanish Autoimmune thrombocytopenia NFKB1 insufficiency PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)]
105783 F 215876tree icon 50 Caucasian Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
105800 M 215882 - Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33864888 [S112]
105827 M 215884 10 German Autoimmune thrombocytopenia Activated p110-delta syndrome 1 PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1]
105852 M 215893tree icon - Thrombocytopenia Autoinflammation, immune dysregulation, and eosinophilia PMID:33864888 [S170(II.1)]
105859 F 215894tree icon 18 British Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 | NFKB1 insufficiency PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)]
105899 F 215900tree icon 4 North American Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)]
105907 M 215904 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.J:II.1(J.II.1 (32))]
105926 M 215909 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)]
105935 F 215911tree icon - Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)]
105968 M 215916 4,3 Japanese Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.U:II.1(U.II.1 (50))]; PMID:30048690 [Fam.1:II.1(P1.2)]; PMID:35087518 [Fam.13:II.1(13.2)]
105973 F 215917 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1]
105974 M 215918 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:35087518 [Fam.15:I.1(15.1)]
105976 M 215918 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)]
105978 F 215918 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:35087518 [Fam.15:II.3(15.4)]
105985 F 215920 19 Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)]
106037 M 215925 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:35087518 [Fam.19:II.1(19.2)]
106042 M 215927 16 North American Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))]
106077 M 215934 - Caucasian Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))]
106090 M 215946tree icon - Saudi Thrombocytopenia T-cell immunodeficiency with thymic aplasia PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)]
106099 M 210955 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]
106100 F 215949 15 Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)]
106105 M 215950 - Caucasian Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))]
106157 M 215956 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P1]
106158 M 215957 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:28956255 [P5(II.2)]; PMID:31432443 [P2(II.2)]
106161 M 215960 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P5]
106163 M 215806 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [Fam.P6:II.2(P7)]
106164 M 215963 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P8]
106166 M 215965 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P10]
106167 F 215966 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P11]
106170 F 215969 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P14]
106171 F 215970 - Turkish Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:31432443 [P15]
106172 F 215971 - German Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FI:660]; GRID:001142 [FR302]
106209 F 215975tree icon 48 Finnish Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)]
106223 M 215976tree icon - Finnish Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)]
106320 M 215984 - Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V]
106326 F 215986 - Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FE:623]; PMID:36105815 [Y405C]
106358 M 216000 -,25 Autoimmune thrombocytopenia,Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:31993940 [Patient(II.1)]
106363 F 216001tree icon 0 Argentinian Thrombocytopenia Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106390 M 216005 14 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:32996901 [Patient(II.1)]
106399 M 216006tree icon 51 German Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [Fam.III.3:II.4]
106403 M 210197tree icon 57 Italian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.DZ:I.1(545)]
106423 F 216015tree icon 8 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)]
106445 M 216015tree icon 18 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)]
106448 F 216016tree icon 0 Japanese Thrombocytopenia Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)]
106452 M 216017 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P1]
106455 M 216019 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P4]
106460 M 216022tree icon - Chinese (China) Autoimmune thrombocytopenia Immunodeficiency 21 PMID:38028622 [Fam.F11:II.1(index)]
106471 M 216025 - Egyptian Thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P6]
106472 M 216026 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P7(II.1)]
106475 M 216028 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P10]
106476 M 216029 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P11]
106477 M 216030 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P12]
106480 M 216033 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [Fam.216032:II.2(P15)]
106482 F 216035 - Egyptian Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P17]
106491 F 216044tree icon 2 Autoimmune thrombocytopenia Immunodeficiency 22 PMID:22985903 [Fam.1:II.1(patient)]
106562 M 216079tree icon 6 Caucasian Thrombocytopenia Adenosine deaminase 2 deficiency PMID:26867732 [Fam.B:IV.1(P3)]
106592 M 216085 15 Thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.A:II.1(P1)]
106595 F 216086 12 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.B:P2]
106611 M 216089tree icon - Australian Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:30323807 [Fam.1:I.1(I.1)]; PMID:29114388 [Fam.A:I.1(I.1)]
106612 F 216089tree icon - Australian Autoimmune thrombocytopenia Immunodeficiency, common variable, 2 PMID:30323807 [Fam.1:I.2(I.2)]; PMID:29114388 [Fam.A:I.2(I.2)]
106625 F 216092tree icon - Admixed Autoimmune thrombocytopenia Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.5:II.2(P13)]
106637 M 216096tree icon - Danish Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32047491 [P3(II.1)]
106646 M 216099 18 Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34628649 [Patient(III.1)]
106649 M 216099 - Autoimmune thrombocytopenia PMID:34628649 [Fam.Patient:II.3(Uncle)]
106650 M 216099 - Autoimmune thrombocytopenia PMID:34628649 [Fam.Patient:I.1(Grandfather)]
106652 F 216099 - Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34628649 [Fam.Patient:III.2(Sister)]
106668 M 216102 24 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.ED:564]; PMID:35281075 [4]
106669 M 216103 29 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EE:565]; PMID:35281075 [5]
106670 F 216104 30 Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EF:566]; PMID:35281075 [7]
106675 M 216105 7 Egyptian Thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158]
106697 F 216110 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1]
106708 F 216115 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.23:23.1]
106710 M 216117 - Japanese Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.25:25.1]
106788 F 216139 - Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:34619682 [P.71]
106812 F 216158 22 Thrombocytopenia Immunodeficiency, common variable, 14 PMID:39059757 [P4]
106816 F 216162 4 Autoimmune thrombocytopenia Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106832 M 216164 7,9 Autoimmune thrombocytopenia,Thrombocytopenia Immunodeficiency, common variable, 8 PMID:30479033 [Patient]
106912 F 216186 49 Thrombocytopenia Immunodeficiency, common variable, 8 PMID:39289195 [Patient(II.2)]
106939 M 216189tree icon 43 Caucasian Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)]
106954 M 216196tree icon - Autoimmune thrombocytopenia NFKB1 insufficiency PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)]
106957 F 216198 - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P13]
106959 M 216200 - Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P17]; PMID:35677041 [Pt9]
106964 M 216205 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P5]
106966 F 216207 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P7]
106974 M 216215 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P15]
106979 F 216220 - Thrombocytopenia T-cell LGL leukemia 1 PMID:22591296 [P20]
107100 M 216334tree icon 2 Japanese Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.5:II.1(P5.1)]
107108 F 216337 - German Autoimmune thrombocytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:34619682 [P.165]
107225 M 216381tree icon 0 Vietnamese Thrombocytopenia Hemophagocytic lymphohistiocytosis, familial 5 PMID:36503158 [Patient(III.3)]
107226 M 216382 7 North American Autoimmune thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case]
107245 M 216394tree icon 2 Caucasian Thrombocytopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30809743 [Fam.2:II.1(Pt#2)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).