Details of Disease

General Information of Disease (ID: DISDHXQ4)

Disease Name Myelodysplastic/myeloproliferative neoplasm
Synonyms
MDS-MPD; myeloproliferative/myelodysplastic disorders; myelodysplastic/myeloproliferative disease; myeloproliferative/myelodysplastic syndromes; myelodysplastic/myeloproliferative disorder; myelodysplastic myeloproliferative disease; myelodysplastic/myeloproliferative diseases; MDS/MPD; myelodysplastic/myeloproliferative disorders; myelodysplastic/myeloproliferative neoplasms; myelodysplastic myeloproliferative cancer; myelodysplastic/myeloproliferative neoplasm; MPD/MDS; MPD-MDS; MDS/MPN
Definition A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.
Disease Hierarchy
DIS5KAPA: Myeloproliferative neoplasm
DISDHXQ4: Myelodysplastic/myeloproliferative neoplasm
Disease Identifiers
MONDO ID
MONDO_0006311
MESH ID
D054437
UMLS CUI
C1301355
MedGen ID
226981
SNOMED CT ID
397336008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EZH2 TT9MZCQ Disputed Genetic Variation [1]
SF3B1 TTL2WUI moderate Genetic Variation [2]
CBL TT7QT13 Strong Genetic Variation [3]
NR4A3 TTJQB49 Strong Altered Expression [4]
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This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NNAT OTNRLO7G Limited Biomarker [5]
ASXL1 OTX931AW Strong Genetic Variation [2]
BCR OTCN76C1 Strong Biomarker [6]
BRCC3 OTK0ZN7Y Strong Biomarker [7]
DIDO1 OT9PB547 Strong Biomarker [8]
ETNK1 OTDKB4DQ Strong Genetic Variation [9]
PAFAH1B1 OT9T2TCJ Strong Genetic Variation [2]
RAP1GAP OTC31ONQ Strong Genetic Variation [10]
RARS1 OTHPZ6JN Strong Genetic Variation [11]
RBMY1A1 OTM2F25H Strong Genetic Variation [12]
SIPA1 OTXY5RXC Strong Genetic Variation [10]
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⏷ Show the Full List of 11 DOT(s)

References

1 Molecular characterization of EZH2 mutant patients with myelodysplastic/myeloproliferative neoplasms.Leukemia. 2017 Sep;31(9):1936-1943. doi: 10.1038/leu.2017.190. Epub 2017 Jun 19.
2 Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis: "2019 Update on Diagnosis, Risk-stratification, and Management".Am J Hematol. 2019 Apr;94(4):475-488. doi: 10.1002/ajh.25397. Epub 2019 Jan 24.
3 Activating CBL mutations are associated with a distinct MDS/MPN phenotype.Ann Hematol. 2012 Nov;91(11):1713-20. doi: 10.1007/s00277-012-1521-3. Epub 2012 Aug 10.
4 The nuclear orphan receptor NR4A1 and NR4A3 as tumor suppressors in hematologic neoplasms.Curr Drug Targets. 2015;16(1):38-46. doi: 10.2174/1389450115666141120112818.
5 Hypermethylation of the imprinted NNAT locus occurs frequently in pediatric acute leukemia.Carcinogenesis. 2002 Apr;23(4):559-64. doi: 10.1093/carcin/23.4.559.
6 Atypical neutrophilic panniculitis as presentation of BCR-ABL1-negative chronic myeloid leukaemia.BMJ Case Rep. 2019 Oct 8;12(10):e232005. doi: 10.1136/bcr-2019-232005.
7 BRCC3 mutations in myeloid neoplasms.Haematologica. 2015 Aug;100(8):1051-7. doi: 10.3324/haematol.2014.111989. Epub 2015 May 22.
8 Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms.J Clin Invest. 2005 Sep;115(9):2351-62. doi: 10.1172/JCI24177. Epub 2005 Aug 25.
9 Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.Blood. 2015 Jan 15;125(3):499-503. doi: 10.1182/blood-2014-06-579466. Epub 2014 Oct 24.
10 Sipa1 deficiency-induced bone marrow niche alterations lead to the initiation of myeloproliferative neoplasm.Blood Adv. 2018 Mar 13;2(5):534-548. doi: 10.1182/bloodadvances.2017013599.
11 Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.Int J Hematol. 2015 Mar;101(3):229-42. doi: 10.1007/s12185-014-1670-3. Epub 2014 Sep 12.
12 "Bone marrow aspirate automated counts on hematology analyzers: formulating a scoring system based on hematology parameters, to discriminate reactive versus myelodysplastic syndrome-related bone marrows".Int J Lab Hematol. 2019 Aug;41(4):542-549. doi: 10.1111/ijlh.13049. Epub 2019 May 18.