General Information of Disease (ID: DISVKEHV)

Disease Name Pancytopenia
Disease Class 3A70: Aplastic anaemia
Definition A finding of low numbers of red and white blood cells and platelets in the peripheral blood.
Disease Hierarchy
DISI8W45: Anaemia
DISVKEHV: Pancytopenia
ICD Code
ICD-11
ICD-11: 3A70.Z
Expand ICD-11
'3A70.Z
Disease Identifiers
MONDO ID
MONDO_0001529
MESH ID
D010198
UMLS CUI
C0030312
MedGen ID
18281
HPO ID
HP:0001876
SNOMED CT ID
127034005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Hyaluronate sodium DMX8M26 Approved Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 25 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GPI TT19JIZ Limited Biomarker [2]
THPO TTCG5PE Limited Altered Expression [3]
PRKAR1A TTNAHEX moderate Biomarker [4]
SF3B1 TTL2WUI moderate Genetic Variation [5]
BRCA2 TTUARD6 Strong Biomarker [6]
BRIP1 TTZV7LJ Strong Biomarker [7]
CSNK1A1 TTFQEMX Strong Biomarker [8]
DCPS TTLSW9V Strong Biomarker [9]
DGKZ TTSBBXL Strong Biomarker [10]
DOT1L TTSZ8T1 Strong Biomarker [11]
DUT TTH6MBO Strong Biomarker [12]
EPO TTQG4NR Strong Biomarker [13]
FANCA TTV5HJS Strong Genetic Variation [14]
FANCF TTNZKFJ Strong Biomarker [7]
HOXA11 TTEX4ZA Strong Genetic Variation [15]
IDS TTNY2AP Strong Biomarker [16]
LIPA TTS8T1M Strong Altered Expression [17]
MPL TTIHYA4 Strong Biomarker [18]
RUNX1 TTWIN3H Strong Biomarker [19]
SLC46A1 TTY8Z2E Strong Biomarker [20]
TBXAS1 TTKNWZ4 Strong Genetic Variation [21]
TCL1A TTUKRDV Strong Genetic Variation [22]
TERT TTQY2EJ Strong Genetic Variation [23]
TPP1 TTOVYPT Strong Genetic Variation [24]
DHFR TTYZVDJ Definitive Biomarker [25]
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⏷ Show the Full List of 25 DTT(s)
This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ADH5 DEIOH6A Strong Genetic Variation [26]
G6PC3 DEE1B8O Strong Genetic Variation [27]
PGM3 DER0EN5 Strong Genetic Variation [28]
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This Disease Is Related to 50 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SBDS OTHDCCIB Limited Genetic Variation [29]
FANCM OTNJG99Z moderate Biomarker [7]
MECOM OTP983W8 moderate Genetic Variation [30]
PRF1 OTFVXD7H moderate Altered Expression [31]
RAD51C OTUD6SY5 moderate Biomarker [7]
RPL27A OTQQHPL0 moderate Biomarker [32]
ACD OTC54EPO Strong Genetic Variation [24]
CARTPT OTTE4V9S Strong Altered Expression [33]
CD48 OT83ZNPP Strong Biomarker [2]
CDC73 OT6JASZ1 Strong Biomarker [34]
CTC1 OTRJY7QD Strong Genetic Variation [35]
DERL1 OTJUS74N Strong Genetic Variation [36]
DKC1 OTX7DJR6 Strong Genetic Variation [23]
DNAJC21 OT8C14QA Strong Biomarker [37]
DOCK4 OTH3XY8B Strong Biomarker [38]
E4F1 OTL5ESAC Strong Genetic Variation [39]
FAAP20 OTDI1MIV Strong Biomarker [40]
FANCB OTMZTXB5 Strong Biomarker [7]
FANCC OTTIDM3P Strong Biomarker [41]
FANCE OTKRPBW1 Strong Biomarker [7]
FANCG OT7MC8TZ Strong Genetic Variation [14]
FANCI OTW8E3SC Strong Biomarker [7]
FANCL OTJC7QPQ Strong Biomarker [7]
FLT3LG OTU0YGC4 Strong Biomarker [42]
FUT1 OTODG57A Strong Biomarker [43]
GATA2 OTBP2QQ2 Strong Genetic Variation [44]
LIG4 OT40DNXU Strong Biomarker [45]
MAD2L2 OT24ZO59 Strong Altered Expression [46]
MOCOS OT0TL3Q5 Strong Biomarker [47]
MPIG6B OTVNKQWA Strong Genetic Variation [48]
MYSM1 OTO73N00 Strong Biomarker [49]
NABP2 OTQU8081 Strong Biomarker [50]
PALB2 OT6DNDBG Strong Biomarker [6]
PARN OTTG4PE3 Strong Genetic Variation [51]
PRB1 OTV0SYMD Strong Biomarker [52]
RHOJ OTWI65OA Strong Biomarker [53]
RPS14 OTB90KV5 Strong Biomarker [54]
RTEL1 OTI3PJCT Strong Biomarker [55]
SAA2 OTYAVJWG Strong Genetic Variation [55]
SAMD9 OTDG48P0 Strong Biomarker [56]
SAMD9L OTKEJUCI Strong Genetic Variation [56]
SLURP1 OT89YD2E Strong Biomarker [9]
SLX4 OTF6236I Strong Biomarker [7]
SPSB1 OTGY26U4 Strong Biomarker [50]
SRI OT4R3EAC Strong Biomarker [52]
TCN2 OT41D0L3 Strong Biomarker [57]
TSN OTOFAQ2Z Strong Biomarker [58]
NHEJ1 OTYOO05J Definitive Genetic Variation [59]
RASA3 OT9C54MN Definitive Biomarker [60]
RECQL4 OT59LSW7 Definitive Biomarker [61]
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⏷ Show the Full List of 50 DOT(s)

References

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3 Eltrombopag maintains human hematopoietic stem and progenitor cells under inflammatory conditions mediated by IFN-.Blood. 2019 May 9;133(19):2043-2055. doi: 10.1182/blood-2018-11-884486. Epub 2019 Feb 25.
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19 Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predisposition due to transcriptional and DNA repair defects.Cell Rep. 2014 Aug 7;8(3):767-82. doi: 10.1016/j.celrep.2014.06.046. Epub 2014 Jul 24.
20 A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.Blood. 2011 May 5;117(18):4895-904. doi: 10.1182/blood-2010-04-279653. Epub 2011 Feb 23.
21 Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26777. Epub 2017 Sep 4.
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23 Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside.Mayo Clin Proc. 2018 Jul;93(7):904-916. doi: 10.1016/j.mayocp.2018.03.020. Epub 2018 May 24.
24 Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.
25 Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004.
26 Genotoxicity of tetrahydrofolic acid to hematopoietic stem and progenitor cells.Cell Death Differ. 2018 Nov;25(11):1967-1979. doi: 10.1038/s41418-018-0089-4. Epub 2018 Mar 6.
27 A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.Eur J Haematol. 2015 Jan;94(1):79-82. doi: 10.1111/ejh.12349. Epub 2014 May 13.
28 A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26.
29 Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBP and C/EBP mRNAs.Nucleic Acids Res. 2016 May 19;44(9):4134-46. doi: 10.1093/nar/gkw005. Epub 2016 Jan 13.
30 Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2.Gene. 2018 May 20;656:86-94. doi: 10.1016/j.gene.2018.02.061. Epub 2018 Feb 27.
31 Perforin gene mutations in patients with acquired aplastic anemia.Blood. 2007 Jun 15;109(12):5234-7. doi: 10.1182/blood-2006-12-063495. Epub 2007 Feb 20.
32 Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.J Pathol. 2011 Aug;224(4):540-52. doi: 10.1002/path.2891. Epub 2011 Jun 14.
33 Treatment of CD33-directed chimeric antigen receptor-modified T cells in one patient with relapsed and refractory acute myeloid leukemia.Mol Ther. 2015 Jan;23(1):184-91. doi: 10.1038/mt.2014.164. Epub 2014 Sep 1.
34 The PAF1c Subunit CDC73 Is Required for Mouse Hematopoietic Stem Cell Maintenance but Displays Leukemia-Specific Gene Regulation.Stem Cell Reports. 2019 May 14;12(5):1069-1083. doi: 10.1016/j.stemcr.2019.03.010. Epub 2019 Apr 25.
35 Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.Br J Haematol. 2019 Jun;185(5):935-939. doi: 10.1111/bjh.15862. Epub 2019 Mar 19.
36 Unbalanced 1;7 translocation in myelodysplastic syndrome following treatment of acute myeloblastic leukemia with an 8;21 translocation.Cancer Genet Cytogenet. 1994 May;74(1):35-9. doi: 10.1016/0165-4608(94)90026-4.
37 Refining the phenotype associated with biallelic DNAJC21 mutations.Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7.
38 Aberrant epigenetic and genetic marks are seen in myelodysplastic leukocytes and reveal Dock4 as a candidate pathogenic gene on chromosome 7q.J Biol Chem. 2011 Jul 15;286(28):25211-23. doi: 10.1074/jbc.M111.235028. Epub 2011 Apr 30.
39 E4F1 is a master regulator of CHK1-mediated functions.Cell Rep. 2015 Apr 14;11(2):210-9. doi: 10.1016/j.celrep.2015.03.019. Epub 2015 Apr 2.
40 Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress.Stem Cells. 2015 Jul;33(7):2320-30. doi: 10.1002/stem.2048. Epub 2015 May 25.
41 Discussing and managing hematologic germ line variants.Blood. 2016 Nov 24;128(21):2497-2503. doi: 10.1182/blood-2016-06-716704.
42 Kinetics of plasma FLT3 ligand concentration in hematopoietic stem cell transplanted patients.Leuk Lymphoma. 2006 Jan;47(1):77-80. doi: 10.1080/10428190500175122.
43 Fancd2-deficient hematopoietic stem and progenitor cells depend on augmented mitochondrial translation for survival and proliferation.Stem Cell Res. 2019 Oct;40:101550. doi: 10.1016/j.scr.2019.101550. Epub 2019 Aug 23.
44 Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.IUBMB Life. 2020 Jan;72(1):142-150. doi: 10.1002/iub.2188. Epub 2019 Nov 1.
45 Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.BMC Pediatr. 2019 Oct 11;19(1):346. doi: 10.1186/s12887-019-1724-z.
46 Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8.
47 Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). Toxicol Appl Pharmacol. 2018 Aug 15;353:102-108. doi: 10.1016/j.taap.2018.06.015. Epub 2018 Jun 20.
48 Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.Gene. 2019 Oct 5;715:143957. doi: 10.1016/j.gene.2019.143957. Epub 2019 Jul 2.
49 Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.J Allergy Clin Immunol. 2017 Oct;140(4):1112-1119. doi: 10.1016/j.jaci.2016.10.053. Epub 2017 Jan 21.
50 Ssb1 and Ssb2 cooperate to regulate mouse hematopoietic stem and progenitor cells by resolving replicative stress.Blood. 2017 May 4;129(18):2479-2492. doi: 10.1182/blood-2016-06-725093. Epub 2017 Mar 7.
51 Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4.
52 VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation.Pediatr Transplant. 2013 Dec;17(8):820-5. doi: 10.1111/petr.12169.
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