Details of Disease | DrugMAP

General Information of Disease (ID: DIS18K7L)

Disease Name	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Synonyms	RUSAT1; Rusat; thrombocytopenia, congenital, with radioulnar synostosis; radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11; radioulnar synostosis with amegakaryocytic thrombocytopenia 1; HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Definition	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.
Disease Hierarchy	DISBKMHA: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome DIS18K7L: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Disease Identifiers	MONDO ID MONDO_0024558 UMLS CUI C4551975 OMIM ID 605432 MedGen ID 1637913

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	Strong	Autosomal dominant	[1]
HOXA11	TTEX4ZA	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXA11	OT42C4HF	Strong	Autosomal dominant	[1]
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References

1	Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000 Dec;26(4):397-8. doi: 10.1038/82511.