Hepatopathy
Basic details
Preferred term: Hepatopathy
Alt. terms: Liver abnormality | Liver disease | Abnormality of the liver
HPO term: Abnormality of the liver
HPO code: HP:0001392
GenIA ID: 157
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: K76.9
Description
Any abnormality of the liver
Hierarchical classification
TERM
Hepatopathy
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101017 | F | 210232 | 51 | German | Hepatomegaly | PMID:34975878 [Fam.F003:P003] | |
101019 | F | 210316 | 46 | German | Hepatic steatosis | PMID:34975878 [Fam.F004:P004] | |
101024 | F | 210927 | 43 | Hepatopathy | PMID:34975878 [Fam.F009:P009] | ||
101037 | M | 210182![]() |
- | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)] |
101043 | M | 210725![]() |
- | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101051 | F | 210205![]() |
30 | Caucasian | Hepatomegaly | 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)] |
101059 | M | 211386 | - | Hepatomegaly | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
101076 | F | 210226 | 51 | German | Hepatitis | PMID:34975878 [Fam.F041:P041] | |
101077 | F | 210211 | 24 | German | Hepatomegaly | PMID:34975878 [Fam.F043:P043] | |
101081 | F | 211315 | 46 | Hepatopathy | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | - | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101085 | F | 210196 | 36 | Hepatic steatosis | PMID:34975878 [Fam.F051:P051] | ||
101086 | M | 210934 | 45 | German | Hepatic steatosis | PMID:34975878 [Fam.F052:P052] | |
101088 | M | 211560 | 44 | German | Elevated hepatic transaminases | PMID:34975878 [Fam.F054:P054] | |
101095 | M | 210286 | 4 | Hepatomegaly | PMID:34975878 [Fam.F060:P060] | ||
101115 | F | 210778 | 37,38 | Caucasian | Hepatic steatosis,Hepatopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101119 | M | 210264 | 19 | Hepatic steatosis | PMID:34975878 [Fam.F070:P070] | ||
101121 | M | 210784 | 46 | German | Hepatopathy | PMID:34975878 [Fam.F072:P072] | |
101125 | M | 210429 | 40 | German | Hepatic steatosis | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
101127 | F | 210318 | 46 | German | Hepatopathy | PMID:34975878 [Fam.F077:P077] | |
101135 | F | 210574 | 19 | Elevated hepatic transaminases | PMID:34975878 [Fam.F084:P084] | ||
101150 | F | 210736 | - | Hepatomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
101194 | M | 212378 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES49] |
101199 | F | 211483 | -,- | German | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101204 | M | 211492 | 55 | German | Elevated hepatic transaminases | PMID:34975878 [Fam.F126:P126] | |
101207 | F | 211502 | - | Hepatic steatosis | PMID:34975878 [Fam.F130:P130] | ||
101228 | M | 210205![]() |
- | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))] |
101260 | M | 212144 | 7 | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101313 | F | 212149 | 10,13 | Lebanese | Hepatomegaly,Hepatopathy | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
101328 | M | 212151 | - | Moroccan | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.2:II.1(2.2)] |
101336 | M | 212152 | - | Omani | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101369 | M | 212161 | - | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
101371 | M | 212161 | - | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101375 | F | 212162 | 3 | Iranian | Hepatomegaly | 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 | - | Iranian | Hepatomegaly | 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] |
101379 | M | 212163 | - | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
101391 | F | 211018 | - | Hepatomegaly | PMID:34975878 [Fam.F137:P137] | ||
101395 | M | 212167 | - | Egyptian | Hepatopathy | Immunodeficiency, common variable, 8 | PMID:27683652 [P1(II.1)] |
101408 | M | 212168 | 5 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:27057999 [Fam.II.2:II.1] | |
101416 | M | 212169 | 7 | Turkish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
101421 | F | 212170 | 6 | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
101424 | M | 212172 | 8 | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
101426 | M | 212173 | 3 | Iranian | Hepatomegaly | 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 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
101458 | F | 210656![]() |
- | Georgian | Hepatomegaly | 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 | Hepatomegaly,Hepatopathy | 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] |
101462 | M | 210006 | 11 | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
101469 | F | 210220![]() |
-,- | German | Hepatomegaly,Hepatopathy | 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 | 1 | Spanish | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101479 | F | 210314![]() |
-,- | German | Hepatic hemangioma,Hepatopathy | 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)] |
101488 | M | 210401![]() |
-,- | German | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101514 | M | 210220![]() |
- | German | Hepatic hemangioma | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
101553 | M | 210256 | - | German | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101569 | F | 210220![]() |
-,- | German | Hepatomegaly,Hepatopathy | 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] |
101578 | M | 210205![]() |
- | German | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101669 | M | 211549 | - | Hepatomegaly | PMID:34975878 [Fam.F234:P234] | ||
101717 | F | 210260![]() |
-,7 | Caucasian | Hepatomegaly,Hepatopathy | 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)] |
101726 | M | 210182![]() |
- | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))] |
101753 | M | 210024 | - | Japanese | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101755 | M | 210025 | 12 | North American | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101764 | F | 210031 | - | Dutch | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101767 | F | 210788 | 49 | Hepatopathy | PMID:34975878 [Fam.F249:P249] | ||
101772 | M | 210034 | - | Iranian | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17] |
101774 | M | 210908![]() |
- | Argentinian | Hepatitis | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101775 | M | 210908![]() |
- | Argentinian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101777 | F | 210920 | - | Libyan | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101788 | M | 210950![]() |
- | Swiss | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
101789 | M | 210950![]() |
- | Swiss | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
101793 | M | 211028 | - | Hepatic hemangioma | PMID:34975878 [Fam.F256:P256] | ||
101798 | M | 211117 | - | Hepatitis | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
101799 | M | 211120 | - | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101808 | F | 211441 | - | Hepatomegaly | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101813 | F | 211525 | - | Hepatomegaly | PMID:34975878 [Fam.F273:P273] | ||
101871 | F | 210078 | - | Turkish | Hepatomegaly | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [CMC03] |
101959 | M | 210641 | 41 | German | Hepatomegaly | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] |
102065 | M | 214285 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES23] |
102092 | F | 214311 | - | Hepatomegaly | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES48] | |
102116 | M | 212357 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES05] |
102121 | M | 214345 | - | Egyptian | Hepatomegaly | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
102175 | M | 210725![]() |
-,- | Caucasian | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102180 | F | 214912 | - | Chinese (China) | Hepatomegaly | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
102222 | M | 214917 | -,57 | German | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102509 | M | 214948![]() |
2 | Irish Traveller | Hepatomegaly | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102719 | F | 214981![]() |
0 | Canadian | Hepatic cyst | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
102729 | M | 214981![]() |
- | Canadian | Hepatic cyst | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
- | Canadian | Hepatic cyst | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102786 | F | 214988![]() |
- | Turkish | Hepatopathy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
103076 | F | 215099![]() |
2 | Omani | Hepatomegaly | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103454 | M | 215130![]() |
3 | Saudi | Hepatomegaly | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.2:II.2(P2)] |
103541 | M | 215155![]() |
- | Mexican | Hepatomegaly | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103542 | M | 215156![]() |
- | Mexican | Hepatic failure | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103830 | F | 215256![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
103834 | F | 215257![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103844 | F | 215259![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
103848 | M | 215260![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
103851 | M | 215261![]() |
- | British | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.6:II.2(P6)] |
103859 | M | 215263![]() |
- | Turkish | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
103997 | M | 215318![]() |
- | Elevated hepatic transaminases | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
104001 | F | 215322![]() |
1 | North American | Elevated hepatic transaminases | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
104229 | F | 215420![]() |
42 | German | Hepatomegaly | Polycystic liver disease 5 with or without kidney disease | PMID:36478640 [II.3(II.3)] |
104237 | M | 215421![]() |
- | European/American | Hepatic fibrosis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Renal colic | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104351 | M | 215490 | 10 | Caucasian | Elevated hepatic transaminases | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H1] |
104392 | F | 215520![]() |
- | French | Hepatomegaly | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104398 | M | 215522![]() |
- | Czech | Hepatic fibrosis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104568 | F | 215551![]() |
- | Pakistani | Hepatic steatosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
104607 | M | 215556![]() |
- | Hepatomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104612 | M | 215557![]() |
10 | Greek | Hepatic steatosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)] |
104630 | M | 215560![]() |
- | Hepatomegaly | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104639 | F | 215562 | 13 | Iraqi | Hepatitis | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
104642 | F | 215562 | 1 | Iraqi | Hepatomegaly | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.1(P1.1)] |
104671 | F | 215568![]() |
- | Lebanese | Elevated hepatic transaminases | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104790 | M | 215574![]() |
- | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
104845 | F | 215579![]() |
-,- | European | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104847 | M | 215581 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 2 | PMID:30307608 [2] |
104848 | F | 215582 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 2 | PMID:30307608 [3] |
104849 | F | 215583 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 2 | PMID:30307608 [4] |
104851 | M | 215585 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 3 | PMID:30307608 [6] |
104855 | F | 215589 | 0 | Egyptian | Hepatomegaly | Omenn syndrome 3 | PMID:30307608 [7] |
104881 | F | 215608 | - | Egyptian | Hepatomegaly | Severe combined immunodeficiency 10A, T-B+ | PMID:30307608 [27] |
104886 | F | 215613![]() |
-,- | Caucasian | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
- | Caucasian | Hepatomegaly | 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)] |
104942 | F | 215622![]() |
- | Dutch | Nodular regenerative hyperplasia of liver | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
105088 | M | 215638 | 24,- | Japanese | Hepatitis,Hepatopathy | 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 | 215639![]() |
- | Israeli | Hepatomegaly | 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)] |
105102 | M | 215640![]() |
19 | European | Elevated hepatic transaminases | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105105 | F | 215643![]() |
18 | Caucasian | Hepatomegaly | 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)] |
105142 | M | 210314![]() |
- | German | Hepatomegaly | 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)] |
105143 | F | 215650 | - | German | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105212 | F | 215666![]() |
- | Finnish | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
105254 | F | 215679 | - | Hepatomegaly | Severe combined immunodeficiency 9A, T-B- | PMID:25516070 [Pt1] | |
105256 | F | 210008![]() |
-,- | German | Hepatomegaly,Hepatopathy | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105273 | F | 215682 | - | North American | Hepatitis | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105280 | M | 215685![]() |
- | European | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105296 | F | 215686![]() |
- | European | Elevated hepatic transaminases | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
105301 | M | 215686![]() |
-,26 | European | Hepatic fibrosis,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
105302 | M | 215686![]() |
- | European | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
105315 | F | 215690 | 31 | European | Nodular regenerative hyperplasia of liver | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105335 | U | 215697 | -,- | European | Hepatopathy,Nodular regenerative hyperplasia of liver | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | - | European | Elevated hepatic transaminases | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105339 | F | 215701![]() |
- | Pakistani | Elevated hepatic transaminases | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.4(P1)] |
105353 | F | 215715 | 10 | Turkish | Elevated hepatic transaminases | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
105361 | F | 215701![]() |
- | Pakistani | Hepatic steatosis | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
105405 | M | 215756 | - | Druze | Hepatitis | Immunodeficiency, common variable, 8 | PMID:33013830 [Patient(II.2)] |
105406 | M | 215757 | 3 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
105412 | F | 215762![]() |
-,- | Caucasian | Hepatomegaly,Hepatopathy | 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 | 215766![]() |
- | Admixed | Hepatomegaly | 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)] |
105428 | M | 215766![]() |
- | Admixed | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
105458 | M | 215771![]() |
- | Caucasian | Hepatopathy | NFKB1 insufficiency | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
105463 | M | 215772![]() |
- | Russian | Nodular regenerative hyperplasia of liver | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105481 | M | 215777![]() |
- | Haitian/Hispanic | Nodular regenerative hyperplasia of liver | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105549 | F | 215801 | 11 | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105573 | U | 215812 | - | Hepatomegaly | Activated p110-delta syndrome 1 | PMID:24698326 [P4] | |
105585 | F | 215818 | 0 | Hepatitis | Immunodeficiency, common variable, 8 | PMID:33713070 [Case3] | |
105647 | M | 215832 | - | Elevated hepatic transaminases | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 3] | |
105671 | M | 215837![]() |
- | Spanish | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105714 | M | 211370![]() |
-,- | Turkish | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)] |
105731 | F | 215843 | - | Russian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | -,- | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105741 | F | 215846 | -,- | Indian | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
105742 | F | 215847 | -,- | Brasilian | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105744 | M | 215849 | - | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105745 | M | 215850 | - | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105747 | F | 215852![]() |
-,- | Dutch | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105750 | M | 215853 | - | North American | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105752 | M | 215855 | - | Russian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105755 | F | 215858 | - | Russian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
105756 | F | 215859 | - | Portuguese | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105758 | M | 215861 | - | Iranian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105773 | M | 215866 | -,- | German | Elevated hepatic transaminases,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105776 | M | 215869 | - | Iranian | Hepatomegaly | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105780 | F | 215873 | -,- | German | Hepatomegaly,Hepatopathy | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105783 | F | 215876![]() |
- | Caucasian | Hepatic failure | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
105799 | M | 215881![]() |
1 | Pakistani | Elevated hepatic transaminases | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105850 | F | 215891![]() |
- | Hepatitis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S066(II.6)] | |
105859 | F | 215894![]() |
46 | British | Nodular regenerative hyperplasia of liver | 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)] |
105910 | F | 215905 | 51 | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105977 | F | 215918 | - | Japanese | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)] |
105981 | M | 215919 | - | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | 22 | Japanese | Hepatic failure | 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)] |
105986 | F | 215921![]() |
- | Hepatitis | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
105999 | F | 215922![]() |
- | Hepatomegaly | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
106047 | F | 215930 | -,- | Caucasian | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106057 | F | 210991 | -,- | Caucasian | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106094 | M | 215947 | -,- | Caucasian | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106099 | M | 210955 | - | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106242 | F | 215977 | - | Caucasian | Hepatopathy | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)] | |
106246 | F | 215977 | - | Caucasian | Hepatomegaly | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106251 | M | 215977 | -,- | Caucasian | Hepatomegaly,Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)] |
106259 | F | 215977 | - | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106274 | M | 215977 | - | Caucasian | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.IV.2:IV.11(IV.7)] |
106348 | M | 215995 | 62 | Hepatopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CO.I.1(I.1)]; PMID:34111452 [CO.I.1 (173)] | |
106363 | F | 216001![]() |
0 | Argentinian | Hepatomegaly | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106448 | F | 216016![]() |
- | Japanese | Hepatomegaly | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)] |
106459 | M | 216021![]() |
- | Nodular regenerative hyperplasia of liver | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
106495 | F | 216045 | 2 | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
106547 | M | 216075![]() |
- | Dutch | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
106555 | M | 216078![]() |
- | Caucasian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106562 | M | 216079![]() |
- | Caucasian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.B:IV.1(P3)] |
106577 | F | 216081![]() |
- | Caucasian | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106642 | F | 216097 | 2 | European | Elevated hepatic transaminases | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31396201 [Fam.:II.1(P1)] |
106669 | M | 216103 | - | Hepatopathy | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106816 | F | 216162 | - | Hepatomegaly | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106847 | M | 216169![]() |
- | Caucasian | Hepatic failure | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
106857 | F | 216173![]() |
0 | Caucasian | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.2(P6)] |
106875 | F | 216179 | - | Japanese | Hepatomegaly | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.4:II.3(P6)] |
106892 | M | 216183 | - | Caucasian | Elevated hepatic transaminases | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.3(P1.1)] |
106895 | M | 216183 | - | Caucasian | Elevated hepatic transaminases | Immunodeficiency, common variable, 17 | PMID:27231034 [Fam.F1:III.6(P1.2)] |
106939 | M | 216189![]() |
43 | Caucasian | Nodular regenerative hyperplasia of liver | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
106956 | M | 216197 | - | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] | |
106957 | F | 216198 | - | Hepatic failure | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
106958 | M | 216199 | - | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P14] | |
106959 | M | 216200 | - | Nodular regenerative hyperplasia of liver | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P17]; PMID:35677041 [Pt9] | |
107045 | M | 216284 | - | Hepatopathy | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
107096 | F | 216332 | -,2 | Japanese | Hepatic steatosis,Hepatopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107100 | M | 216334![]() |
2 | Japanese | Hepatomegaly | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107107 | M | 216336 | - | Hepatopathy | Hyper-IgE recurrent infection syndrome 1 | PMID:33864888 [S097] | |
107110 | M | 216339![]() |
4 | Indian | Hepatomegaly | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P1(IV.2)] |
107143 | M | 216360 | - | Turkish | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:26233953 [Fam.F3:P4] |
107212 | F | 216374 | 4 | Arab | Hepatomegaly | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
107225 | M | 216381![]() |
0 | Vietnamese | Hepatic failure | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:36503158 [Patient(III.3)] |
107246 | M | 216395 | - | Caucasian | Hepatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).