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
TERM
Pancytopenia
CHILD terms
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101037 | M | 210182![]() |
- | 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 | 210261![]() |
- | 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 | 210725![]() |
21 | Caucasian | Pancytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102645 | M | 214974![]() |
1 | Caucasian | Pancytopenia | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
104845 | F | 215579![]() |
- | 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 | 215635![]() |
- | 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 | 215766![]() |
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 | 215775![]() |
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 | 215807![]() |
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 | 215831![]() |
- | Chinese (China) | Pancytopenia | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
105783 | F | 215876![]() |
50 | Caucasian | Aplastic anaemia | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
105935 | F | 215911![]() |
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 | 216001![]() |
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 | 216078![]() |
0 | Caucasian | Pancytopenia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
106577 | F | 216081![]() |
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 | 216196![]() |
- | 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).