Details of Disease | DrugMAP

General Information of Disease (ID: DISFWEQH)

Disease Name	Hereditary thrombocytosis with transverse limb defect
Synonyms	thrombocythemia with distal limb defects; familial thrombocytosis with transverse limb defect
Definition	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Disease Hierarchy	DIS3LICD: Congenital limb malformation DISAWDAB: Congenital hematological disorder DIS1DL2M: Inherited blood coagulation disorder DISHPNVX: Dysplasia DISFWEQH: Hereditary thrombocytosis with transverse limb defect
Disease Identifiers	MONDO ID MONDO_0018000 UMLS CUI C4749944 MedGen ID 1653707 Orphanet ID 329319 SNOMED CT ID 771511005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
THPO	TTCG5PE	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
THPO	OTO73DZ2	Supportive	Autosomal dominant	[1]
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References

1	Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24.