General Information of Disease (ID: DIS9XD9A)

Disease Name Hematologic disease
Synonyms
haematological disorders and malignancies; hematological disorders and malignancies; hematological disease; disorder of haematopoietic system; rare hematologic disease; haematopoietic system disease; haematopoietic system disease or disorder; hematologic and lymphocytic disorder; blood disease; hematologic disorder; hematopoietic system disease or disorder; hematological system disease; haematological disorder; disease of the blood and blood-forming organs; haematological system disease; disease of hematopoietic system; blood disorder; hematopoietic disease; disorder of hematopoietic system; disease or disorder of hematopoietic system; disease or disorder of haematopoietic system; hematopoietic system disease; hematological disorder; blood dyscrasia; disease of haematopoietic system; haematopoietic disease; haematological disease
Disease Class 3C0Z: Blood-forming organ disease
Definition A disease involving the hematopoietic system.|placeholder for lymphoid disease
Disease Hierarchy
DISH7H5I: Human disease
DIS9XD9A: Hematologic disease
ICD Code
ICD-11
ICD-11: 3C0Z
Expand ICD-11
'3C0Z
Expand ICD-10
'III; 'D70-D77; 'D77; 'Q89.9
Disease Identifiers
MONDO ID
MONDO_0005570
MESH ID
D006402
UMLS CUI
C0018939
MedGen ID
5483
Orphanet ID
97992
SNOMED CT ID
191124002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 4 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Busulfan DMXYJ9C Approved Small molecular drug [1]
Fludarabine DMVRLT7 Approved Small molecular drug [2]
Lmw heparin DMJPD06 Approved Small molecular drug [3]
Melphalan DMOLNHF Approved Small molecular drug [4]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
CK0801 DM3WZXO Phase 1 Cell therapy [5]
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This Disease is Treated as An Indication in 3 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Hematological disease agents DM1K00T Investigative Small molecular drug [6]
HemoTech DMU5GO8 Investigative NA [6]
PN-951 DMXPALT Investigative NA [6]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 15 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HBB TTM6HK1 Limited Biomarker [7]
MTR TTUTO39 moderate Biomarker [8]
SERPINE1 TTTO43N moderate Therapeutic [9]
ABL1 TT6B75U Strong Genetic Variation [10]
ACR TTAHE2N Strong Biomarker [11]
ALAD TTJHKYD Strong Biomarker [12]
CYP2J2 TTNE1C7 Strong Altered Expression [13]
FABP1 TTIV96N Strong Biomarker [14]
FAS TT7LTUJ Strong Biomarker [15]
HAX1 TT21BYA Strong Biomarker [16]
HBA2 TTQO71U Strong Biomarker [17]
IL3RA TTENHJ0 Strong Altered Expression [18]
MTHFR TTQWOU1 Strong Biomarker [8]
SERPINA6 TTJL8VG Strong Altered Expression [19]
GSR TTEP6RV Definitive Biomarker [20]
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⏷ Show the Full List of 15 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC7A9 DTP7AEQ Limited Biomarker [21]
SLC4A1 DTB0Q3P Strong Biomarker [22]
SLC25A10 DTJYKDQ Definitive Altered Expression [23]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TPMT DEFQ8VO Strong Genetic Variation [24]
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This Disease Is Related to 53 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DDX39A OT0Z6E1K Limited Biomarker [21]
DDX39B OTEVCFVU Limited Biomarker [21]
HBG2 OT4J48JJ Limited Biomarker [25]
QRSL1 OTJDU2UG Limited Biomarker [26]
GATA1 OTX1R7O1 Disputed Altered Expression [27]
FCRL2 OT0RLDOD moderate Altered Expression [28]
GFI1B OTRDW8YO moderate Genetic Variation [29]
ADAMTS18 OTRMFI04 Strong Biomarker [30]
AHSP OTTHBSUS Strong Altered Expression [31]
AP5Z1 OTXIPLFH Strong Genetic Variation [32]
ASXL1 OTX931AW Strong Genetic Variation [33]
ATF5 OT03QCLM Strong Biomarker [34]
ATRNL1 OTY5JUX2 Strong Biomarker [35]
BCL11B OT8KKCVJ Strong Genetic Variation [36]
BIN1 OTK8O0X8 Strong Biomarker [37]
CARD16 OT4NUHWB Strong Genetic Variation [38]
CBFB OTIAC6W4 Strong Biomarker [39]
CKB OTUCKOTT Strong Altered Expression [40]
DERL1 OTJUS74N Strong Genetic Variation [41]
ENDOU OTB7OF7Y Strong Altered Expression [42]
EXOSC6 OTAC10N6 Strong Altered Expression [42]
FANCC OTTIDM3P Strong Biomarker [43]
FCRL6 OTLIXQMQ Strong Altered Expression [44]
FUBP1 OT77SC9N Strong Biomarker [45]
FUT1 OTODG57A Strong Biomarker [46]
GAR1 OTA580RX Strong Biomarker [47]
HBG1 OTVL4NSU Strong Altered Expression [48]
HFE OTDD93KB Strong Biomarker [49]
HLA-E OTX1CTFB Strong Biomarker [50]
IARS1 OT9WXH5N Strong Biomarker [51]
ICAM4 OT1BI27E Strong Genetic Variation [52]
ICAM5 OTDGGAFH Strong Genetic Variation [52]
KDM2B OTDMCVW7 Strong Biomarker [53]
KLF1 OT1FK08U Strong Genetic Variation [54]
LMAN1 OTYHKDEO Strong Genetic Variation [55]
MCFD2 OTM0XU0U Strong Biomarker [56]
PDLIM3 OTVXQC81 Strong Biomarker [35]
PIGA OT51UWUR Strong Genetic Variation [57]
PMCH OT3D9SA4 Strong Altered Expression [58]
POGLUT1 OTDX7GZD Strong Biomarker [59]
PSMA5 OT38E6Y1 Strong Genetic Variation [32]
PSMA7 OTPHI6ST Strong Biomarker [60]
RANBP2 OTFG5CVF Strong Biomarker [61]
RIN1 OTPBROUD Strong Biomarker [37]
RPS19 OTBKGP48 Strong Genetic Variation [62]
SAMD9 OTDG48P0 Strong Genetic Variation [63]
SAMD9L OTKEJUCI Strong Genetic Variation [63]
SBDS OTHDCCIB Strong Biomarker [64]
SSB OTCCTPBR Strong Biomarker [65]
TRADD OTBOSJHO Strong Genetic Variation [66]
TSPY1 OTPY57X4 Strong Genetic Variation [67]
TSPY3 OTQK3AKI Strong Genetic Variation [67]
CLEC1B OTO38TRG Definitive Altered Expression [23]
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⏷ Show the Full List of 53 DOT(s)

References

1 Busulfan FDA Label
2 Fludarabine FDA Label
3 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
4 Melphalan FDA Label
5 ClinicalTrials.gov (NCT03773393) A Clinical Trial of CK0801 (a New Drug) in Patients With Bone Marrow Failure Syndrome (BMF). U.S. National Institutes of Health.
6 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
7 Detection of HCV genome in peripheral blood mononuclear cells of Iranian seropositive and HCV RNA negative in plasma of patients with beta-thalassemia major: Occult HCV infection.J Med Virol. 2019 Jan;91(1):107-114. doi: 10.1002/jmv.25279. Epub 2018 Sep 24.
8 Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression.J Pediatr. 2009 May;154(5):688-93. doi: 10.1016/j.jpeds.2008.11.030. Epub 2009 Jan 21.
9 A combined immunostimulatory and immunoinhibitory short interference RNA reduces hypercoagulability in a rat model of acute promyelocytic leukaemia.Thromb Haemost. 2010 Aug;104(2):350-4. doi: 10.1160/TH09-12-0816. Epub 2010 Jun 10.
10 Epigenetic mechanisms underlying the therapeutic effects of HDAC inhibitors in chronic myeloid leukemia.Biochem Pharmacol. 2020 Mar;173:113698. doi: 10.1016/j.bcp.2019.113698. Epub 2019 Nov 7.
11 Performance of the 2012 Systemic Lupus International Collaborating Clinics classification criteria versus the 1997 American College of Rheumatology classification criteria in adult and juvenile systemic lupus erythematosus. A systematic review and meta-analysis.Autoimmun Rev. 2018 Mar;17(3):316-322. doi: 10.1016/j.autrev.2018.01.007. Epub 2018 Jan 31.
12 Investigation of delta-aminolevulinic acid dehydratase polymorphism affecting hematopoietic, hepatic and renal toxicity from lead in Han subjects of southwestern China.Acta Physiol Hung. 2014 Mar;101(1):59-66. doi: 10.1556/APhysiol.101.2014.1.7.
13 Cytochrome P450 2J2 is highly expressed in hematologic malignant diseases and promotes tumor cell growth.J Pharmacol Exp Ther. 2011 Feb;336(2):344-55. doi: 10.1124/jpet.110.174805. Epub 2010 Oct 28.
14 Liver fatty acid-binding protein might be a predictive marker of clinical response to systemic treatment in psoriasis.Arch Dermatol Res. 2019 Jul;311(5):389-397. doi: 10.1007/s00403-019-01917-w. Epub 2019 Apr 16.
15 Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.Br J Haematol. 2005 May;129(4):534-8. doi: 10.1111/j.1365-2141.2005.05496.x.
16 Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.
17 Complementation of alpha-thalassaemia in alpha-globin knockout mice with a 191 kb transgene containing the human alpha-globin locus.Transgenic Res. 2004 Jun;13(3):235-43. doi: 10.1023/b:trag.0000034627.36174.06.
18 Development of a novel fully-human anti-CD123 antibody to target acute myeloid leukemia.Leuk Res. 2019 Sep;84:106178. doi: 10.1016/j.leukres.2019.106178. Epub 2019 Jun 27.
19 Unexplained high transcortin levels in patients with various hematological disorders and in the relatives: a connection between these high transcortin levels and HLA antigen B12.J Clin Endocrinol Metab. 1980 Mar;50(3):421-6. doi: 10.1210/jcem-50-3-421.
20 Glutathione reductase deficiency in association with sickle cell and thalassaemia genes in Saudi populations.Hum Hered. 1985;35(5):326-32. doi: 10.1159/000153571.
21 Dual-action CXCR4-targeting liposomes in leukemia: function blocking and drug delivery.Blood Adv. 2019 Jul 23;3(14):2069-2081. doi: 10.1182/bloodadvances.2019000098.
22 Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3.Biochem J. 1993 Jul 15;293 ( Pt 2)(Pt 2):317-20. doi: 10.1042/bj2930317.
23 Elevated plasma levels of soluble C-type lectin-like receptor 2 (CLEC2) in patients with thrombotic microangiopathy.Thromb Res. 2019 Jun;178:54-58. doi: 10.1016/j.thromres.2019.03.018. Epub 2019 Mar 28.
24 Frequency of thiopurine methyltransferase mutation in patients of Mediterranean area with inflammatory bowel disease and autoimmune disorders.Dig Liver Dis. 2016 Dec;48(12):1506-1509. doi: 10.1016/j.dld.2016.08.125. Epub 2016 Sep 1.
25 Stability of postmortem methemoglobin: Artifactual changes caused by storage conditions.Forensic Sci Int. 2018 Feb;283:21-28. doi: 10.1016/j.forsciint.2017.12.009. Epub 2017 Dec 8.
26 The GATA factor revolution in hematology.Blood. 2017 Apr 13;129(15):2092-2102. doi: 10.1182/blood-2016-09-687871. Epub 2017 Feb 8.
27 Regulation of GATA1 levels in erythropoiesis.IUBMB Life. 2020 Jan;72(1):89-105. doi: 10.1002/iub.2192. Epub 2019 Nov 25.
28 FCRL2 mRNA expression is inversely associated with clinical progression in chronic lymphocytic leukemia.Eur J Haematol. 2009 Dec 1;83(6):541-9. doi: 10.1111/j.1600-0609.2009.01328.x. Epub 2009 Aug 4.
29 From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.Blood. 2015 Dec 10;126(24):2561-9. doi: 10.1182/blood-2015-06-655043. Epub 2015 Oct 7.
30 ADAMTS-18: a metalloproteinase with multiple functions.Front Biosci (Landmark Ed). 2014 Jun 1;19(8):1456-67. doi: 10.2741/4296.
31 alpha-Hemoglobin stabilizing protein is not a suitable marker for a screening test for variant Creutzfeldt-Jakob disease.Transfusion. 2008 Aug;48(8):1616-26. doi: 10.1111/j.1537-2995.2008.01759.x. Epub 2008 May 22.
32 Alterations in the expression pattern of TCR zeta chain in T cells from patients with hematological diseases.Hematology. 2008 Oct;13(5):267-75. doi: 10.1179/102453308X343482.
33 Modeling ASXL1 mutation revealed impaired hematopoiesis caused by derepression of p16Ink4a through aberrant PRC1-mediated histone modification.Leukemia. 2019 Jan;33(1):191-204. doi: 10.1038/s41375-018-0198-6. Epub 2018 Jul 2.
34 Requirement of activating transcription factor 5 for murine fetal liver erythropoiesis.Br J Haematol. 2020 Feb;188(4):582-585. doi: 10.1111/bjh.16202. Epub 2019 Sep 16.
35 Granulocytes' enzymes as biomarkers of radiotoxicity in individuals occupationally exposed to low-level radiation.J BUON. 2009 Jan-Mar;14(1):85-91.
36 Increased expression of bcl11b leads to chemoresistance accompanied by G1 accumulation.PLoS One. 2010 Sep 2;5(9):e12532. doi: 10.1371/journal.pone.0012532.
37 Inverse regulation of bridging integrator 1 and BCR-ABL1 in chronic myeloid leukemia.Tumour Biol. 2016 Jan;37(1):217-25. doi: 10.1007/s13277-015-3772-9. Epub 2015 Jul 21.
38 Inherited hematological disorders due to defects in coat protein (COP)II complex.Am J Hematol. 2013 Feb;88(2):135-40. doi: 10.1002/ajh.23292. Epub 2012 Jul 5.
39 Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders.Adv Exp Med Biol. 2017;962:175-199. doi: 10.1007/978-981-10-3233-2_12.
40 Increased creatine kinase BB activity and CKB mRNA expression in patients with hematologic disorders: relation to methylation status of the CKB promoter.Clin Chim Acta. 2005 Nov;361(1-2):135-40. doi: 10.1016/j.cccn.2005.05.028.
41 Unbalanced 1;7 translocation and therapy-induced hematologic disorders: a possible relationship.Am J Hematol. 1986 Jan;21(1):39-47. doi: 10.1002/ajh.2830210106.
42 Chromosome 12 rearrangement with breakage at the p11 level in hematologic disorders: report of four cases.Cancer Genet Cytogenet. 1985 Feb 15;15(3-4):309-14. doi: 10.1016/0165-4608(85)90175-x.
43 Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings.Prenat Diagn. 2005 Jan;25(1):20-2. doi: 10.1002/pd.1055.
44 FCRL6 receptor: expression and associated proteins.Immunol Lett. 2011 Jan 30;134(2):174-82. doi: 10.1016/j.imlet.2010.09.023. Epub 2010 Oct 7.
45 The master regulator FUBP1: its emerging role in normal cell function and malignant development.Cell Mol Life Sci. 2019 Jan;76(2):259-281. doi: 10.1007/s00018-018-2933-6. Epub 2018 Oct 20.
46 Promises and Challenges in Hematopoietic Stem Cell Gene Therapy.Hum Gene Ther. 2017 Oct;28(10):782-799. doi: 10.1089/hum.2017.141.
47 Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing.PLoS One. 2012;7(1):e30188. doi: 10.1371/journal.pone.0030188. Epub 2012 Jan 27.
48 Increase in gamma-globin mRNA content in human erythroid cells treated with angelicin analogs.Int J Hematol. 2009 Oct;90(3):318-327. doi: 10.1007/s12185-009-0422-2. Epub 2009 Sep 25.
49 Analogues of desferrioxamine B designed to attenuate iron-mediated neurodegeneration: synthesis, characterisation and activity in the MPTP-mouse model of Parkinson's disease.Metallomics. 2017 Jul 19;9(7):852-864. doi: 10.1039/c7mt00039a.
50 The impact of HLA-E polymorphisms on relapse following allogeneic hematopoietic stem cell transplantation.Leuk Res. 2013 May;37(5):516-9. doi: 10.1016/j.leukres.2013.01.011. Epub 2013 Feb 6.
51 Insulin Substrate Receptor (IRS) proteins in normal and malignant hematopoiesis.Clinics (Sao Paulo). 2018 Oct 11;73(suppl 1):e566s. doi: 10.6061/clinics/2018/e566s.
52 Genetic association study of systemic lupus erythematosus and disease subphenotypes in European populations.Clin Rheumatol. 2016 May;35(5):1161-8. doi: 10.1007/s10067-016-3235-8. Epub 2016 Mar 28.
53 Interplay between the Epigenetic Enzyme Lysine (K)-Specific Demethylase 2B and Epstein-Barr Virus Infection.J Virol. 2019 Jun 14;93(13):e00273-19. doi: 10.1128/JVI.00273-19. Print 2019 Jul 1.
54 Krppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.Int J Lab Hematol. 2015 May;37 Suppl 1:78-84. doi: 10.1111/ijlh.12356.
55 The COPII pathway and hematologic disease.Blood. 2012 Jul 5;120(1):31-8. doi: 10.1182/blood-2012-01-292086. Epub 2012 May 14.
56 Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer.Exp Cell Res. 2018 Jul 1;368(1):119-125. doi: 10.1016/j.yexcr.2018.04.021. Epub 2018 Apr 19.
57 Circulating PIG-A mutant T lymphocytes in healthy adults and patients with bone marrow failure syndromes.Exp Hematol. 2001 Dec;29(12):1403-9. doi: 10.1016/s0301-472x(01)00746-9.
58 Excessive fluoride consumption increases haematological alteration in subjects with iron deficiency, thalassaemia, and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.Environ Geochem Health. 2017 Aug;39(4):751-758. doi: 10.1007/s10653-016-9845-x. Epub 2016 Jun 18.
59 hCLP46 regulates U937 cell proliferation via Notch signaling pathway.Biochem Biophys Res Commun. 2011 Apr 29;408(1):84-8. doi: 10.1016/j.bbrc.2011.03.124. Epub 2011 Mar 31.
60 Evaluation of committed and primitive cord blood progenitors after expansion on adipose stromal cells.Cell Tissue Res. 2018 Jun;372(3):523-533. doi: 10.1007/s00441-017-2766-x. Epub 2018 Jan 11.
61 RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia.Cancer Genet. 2014 Jan-Feb;207(1-2):40-5. doi: 10.1016/j.cancergen.2013.12.003. Epub 2014 Jan 21.
62 Hypermethylation of 28S ribosomal RNA in -thalassemia trait carriers.Int J Biol Macromol. 2017 Jan;94(Pt A):728-734. doi: 10.1016/j.ijbiomac.2016.10.039. Epub 2016 Oct 17.
63 Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.Biol Blood Marrow Transplant. 2019 Nov;25(11):2186-2196. doi: 10.1016/j.bbmt.2019.07.007. Epub 2019 Jul 12.
64 Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x.
65 Glutathione S-transferase genotype and risk of systemic lupus erythematosus in Koreans.Lupus. 2005;14(5):381-4. doi: 10.1191/0961203305lu2100oa.
66 Screening, identification, and functional analysis of three novel missense mutations in the TRADD gene in children with ALL and ALPS.Pediatr Blood Cancer. 2008 Nov;51(5):616-20. doi: 10.1002/pbc.21672.
67 Long-term persistence of hemopoietic chimerism following sex-mismatched bone marrow transplantation.Bone Marrow Transplant. 1997 Dec;20(11):969-73. doi: 10.1038/sj.bmt.1701011.