Details of Disease | DrugMAP

General Information of Disease (ID: DISBKMHA)

Disease Name	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Synonyms	radioulnar synostosis with amegakaryocytic thrombocytopenia; RUSAT; ATRUS syndrome
Definition	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
Disease Hierarchy	DIS3LICD: Congenital limb malformation DISAWDAB: Congenital hematological disorder DISHPNVX: Dysplasia DISFXMTP: Syndromic constitutional thrombocytopenia DISBKMHA: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Disease Identifiers	MONDO ID MONDO_0011555 MESH ID C565328 UMLS CUI C1854273 MedGen ID 340183 Orphanet ID 71289

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HOXA11	TTEX4ZA	Limited	Genetic Variation	[1]
HOXA11	TTEX4ZA	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXA11	OT42C4HF	Supportive	Autosomal dominant	[2]
MECOM	OTP983W8	Supportive	Autosomal dominant	[1]
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References

1	Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. Am J Hum Genet. 2015 Dec 3;97(6):848-54. doi: 10.1016/j.ajhg.2015.10.010. Epub 2015 Nov 12.
2	Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000 Dec;26(4):397-8. doi: 10.1038/82511.