Details of Disease

General Information of Disease (ID: DISVREYO)

• Disease Name: Thrombocythemia 1
• Synonyms: THCYT1; thrombocytosis 1; thrombocythemia, somatic; thrombocythemia type 1; thrombocythemia 1
• Disease Hierarchy:
  DISL38J3: Thrombocythemia
  DIS5M94B: Non-syndromic limb reduction defect
  DISVREYO: Thrombocythemia 1
• Disease Identifiers:
  MONDO ID: MONDO_0008554
  UMLS CUI: C3277671
  OMIM ID: 187950
  MedGen ID: 479301

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SH2B3	TT36N7Z	No Known	Unknown	[1]
CALR	TTUZ7OA	Limited	Biomarker	[2]
MPL	TTIHYA4	Limited	Genetic Variation	[3]
THPO	TTCG5PE	Strong	Autosomal dominant	[4]
THPO	TTCG5PE	Definitive	Biomarker	[5]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SH2B3	OT4ALHBQ	No Known	Unknown	[1]
THPO	OTO73DZ2	Strong	Autosomal dominant	[4]

References

• [1] Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet. 2014 Jun;46(6):629-34. doi: 10.1038/ng.2962. Epub 2014 Apr 28.
• [2] Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.N Engl J Med. 2013 Dec 19;369(25):2391-2405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10.
• [3] Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.Br J Haematol. 2010 Apr;149(2):250-7. doi: 10.1111/j.1365-2141.2010.08083.x. Epub 2010 Feb 11.
• [4] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [5] Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with?romiplostim. EMBO Mol Med. 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168.