Pancytopenia
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. to 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
| 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)]; PMID:34111452 [B.II.3 (15)]; PMID:39218359 [15] |
| 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] | ||
| 101720 | F | 210022 | 6 | Iranian | Pancytopenia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
| 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)]; PMID:34111452 [D.II.1 (22)] |
| 102175 | M | 210725 |
21 | Caucasian | Pancytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [H.II.1]; PMID:29729943 [Fam.H:II.1(H.II.1 (29))]; PMID:34111452 [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 [Fam.1:III.2(Patient)] |
| 105111 | F | 215645 | - | North American | 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 [T.II.1 (48)]; PMID:27102614 [Fam.A:II.1(P1)]; PMID:34111452 [T.II.1 (48)]; PMID:39218359 [6] |
| 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 [Fam.: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 | Japanese | 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)] | |
| 106472 | M | 216026 | - | Egyptian | Pancytopenia | Immunodeficiency, common variable, 8 | PMID:32506362 [P7(II.1)] |
| 106530 | M | 216062 | 2 | Pancytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [BT.II.1 (157)] | |
| 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)] |
| 106797 | F | 216148 | 52 | German | Pancytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37740092 [P06] |
| 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 [P3] |
| 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] | |
| 107109 | F | 216338 | - | Japanese | Pancytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CG.II.1 (166)] |
| 107491 | F | 216515 |
14 | Turkish | Pancytopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F5:II.1(CM7)]; PMID:35491430 [Fam.F5:II.1(CM7)] |
| 107712 | M | 216608 | -,- | Aplastic anaemia,Pancytopenia | Immunodeficiency, common variable, 8 | PMID:36074705 [P2] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).