Pancytopenia

Basic details

Preferred term: Pancytopenia
Alt. terms: Low blood cell count

HPO term: Pancytopenia
HPO code: HP:0001876

GenIA ID: 59
Last updated on: 2021-12-10 17:55:48

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101037 M 210182tree icon - Caucasian Pancytopenia 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)]
101082 F 211226 48 Pancytopenia Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F048:P048]
101269 M 212146 3 Saudi Pancytopenia PMID:22721650 [Fam.VI:5:I.1]
101295 M 212146 3 Saudi Pancytopenia Immunodeficiency, common variable, 8 PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6]
101313 F 212149 13 Lebanese Pancytopenia Immunodeficiency, common variable, 8 PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17]
101426 M 212173 - Iranian Pancytopenia 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]
101586 F 210642 - Pancytopenia PMID:34975878 [Fam.F204:P204]
101722 F 210261tree icon - Asian Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)]
102175 M 210725tree icon 21 Caucasian Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102645 M 214974tree icon 1 Caucasian Pancytopenia Immunodeficiency 98 with autoinflammation PMID:33512449 [Fam.6:II.1(P6)]
104845 F 215579tree icon - European Pancytopenia 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)]
105057 F 215635tree icon - German Pancytopenia 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)]
105103 F 215641 11 South Korean Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:26478010 [III.2(III.2)]
105111 F 215645 - Aplastic anaemia NFKB1 insufficiency PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146]
105172 M 215659 2 Caucasian Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)]
105173 M 215659 - Pancytopenia PMID:27102614 [Fam.A:I.1(father)]
105203 F 215669 4 Turkish Pancytopenia Immunodeficiency, common variable, 8 PMID:23733509 [P1(II.1)]
105333 F 215695 - European Pancytopenia NFKB1 insufficiency PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286]
105353 F 215715 - Turkish Pancytopenia Immunodeficiency, common variable, 8 PMID:26686526 [P1]
105357 M 215719 4 Pancytopenia Immunodeficiency, common variable, 8 PMID:29804237 [P1]
105398 F 215749 - Pancytopenia Immunodeficiency, common variable, 8 PMID:31389321 [Patient 1]
105424 M 215766tree icon 1 Admixed Pancytopenia 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)]
105470 M 215774 - Iranian Pancytopenia NFKB1 insufficiency PMID:150198 [Fam.BP:309]; PMID:31117086 [P35]
105471 M 215775tree icon 2 Filipino Pancytopenia NFKB1 insufficiency PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T]
105562 M 215805 4 Turkish Pancytopenia Immunodeficiency, common variable, 8 PMID:31026575 [P1]; PMID:31432443 [P4]
105564 M 215807tree icon 16 Spanish Pancytopenia 4q24 deletion syndrome PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)]
105623 M 215822 6 Caucasian Pancytopenia Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:II.6(P2)]
105641 F 215831tree icon - Chinese (China) Pancytopenia Immunodeficiency, common variable, 8 PMID:30363934 [case 1(I.2)]
105783 F 215876tree icon 50 Caucasian Aplastic anaemia NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
105935 F 215911tree icon 14 Pancytopenia NFKB1 insufficiency PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)]
106358 M 216000 19 Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:31993940 [Patient(II.1)]
106363 F 216001tree icon 6 Argentinian Pancytopenia Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106371 M 216004 22 Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)]
106472 M 216026 - Egyptian Pancytopenia Immunodeficiency, common variable, 8 PMID:32506362 [P7(II.1)]
106558 M 216078tree icon 0 Caucasian Pancytopenia Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)]
106577 F 216081tree icon 7 Caucasian Pancytopenia Adenosine deaminase 2 deficiency PMID:26867732 [Fam.D:II.2(P6)]
106703 F 216114 - Japanese Aplastic anaemia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.21:II.1(21.2)]
106705 M 216114 - Japanese Aplastic anaemia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.21:I.1(21.1)]
106812 F 216158 15 Pancytopenia Immunodeficiency, common variable, 14 PMID:39059757 [P4]
106816 F 216162 - Pancytopenia Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106840 M 216167 - SouthEast Asian Pancytopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35242131 [3]
106954 M 216196tree icon - Pancytopenia NFKB1 insufficiency PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)]
106973 F 216214 - Pancytopenia T-cell LGL leukemia 1 PMID:22591296 [P14]
106976 M 216217 - Pancytopenia T-cell LGL leukemia 1 PMID:22591296 [P17]
106982 F 216223 - Pancytopenia T-cell LGL leukemia 1 PMID:22591296 [P23]
106988 M 216229 - Pancytopenia T-cell LGL leukemia 1 PMID:22591296 [P29]

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