Details of Disease

General Information of Disease (ID: DISL38J3)

Disease Name	Thrombocythemia
Synonyms	thrombocythemia; hereditary thrombocytosis disease; hereditary thrombocythemia; familial thrombocythemia; hereditary thrombocytosis; THCYT
Disease Class	3B63: Thrombocytosis
Definition	Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
Disease Hierarchy	DISYKSRF: Genetic disease DISNG0P4: Thrombocytosis disease DISL38J3: Thrombocythemia
ICD Code	ICD-11 ICD-11: 3B63 ICD-9 ICD-9: 289.9 Expand ICD-9 289.9
Disease Identifiers	MONDO ID MONDO_0019111 UMLS CUI C4303761 MedGen ID 929430 Orphanet ID 71493 SNOMED CT ID 720950009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anagrelide	DMSQ8MD	Approved	Small molecular drug	[1]
Momelotinib	DMF98Q0	Approved	Small molecular drug	[2]
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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
PRM-151	DMK8PTH	Phase 2	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
JAK2	TTRMX3V	Supportive	Autosomal dominant	[3]
MPL	TTIHYA4	Supportive	Autosomal dominant	[4]
THPO	TTCG5PE	Supportive	Autosomal dominant	[4]
JAK2	TTRMX3V	Strong	GermlineCausalMutation	[3]
MPL	TTIHYA4	Strong	Genetic Variation	[5]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
JAK2	OTBIDOOR	Supportive	Autosomal dominant	[3]
MPL	OTZEN192	Supportive	Autosomal dominant	[4]
THPO	OTO73DZ2	Supportive	Autosomal dominant	[4]
CD177	OTS79FNF	Strong	Biomarker	[6]
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References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7114).
2	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
3	Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med. 2012 Mar 8;366(10):967-9. doi: 10.1056/NEJMc1200349.
4	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
5	Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.Ann Hematol. 2012 Jul;91(7):1129-33. doi: 10.1007/s00277-012-1453-y. Epub 2012 Mar 28.
6	Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders.Blood. 2003 Sep 1;102(5):1869-71. doi: 10.1182/blood-2003-03-0744. Epub 2003 May 1.