Details of Disease

General Information of Disease (ID: DISTGOYP)

Disease Name Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Synonyms
MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; RUSAT2; radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM; radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2; radioulnar synostosis with amegakaryocytic thrombocytopenia 2; radioulnar synostosis with amegakaryocytic thrombocytopenia type 2
Definition Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
Disease Hierarchy
DISBKMHA: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
DISOBLXY: MECOM-associated syndrome
DISTGOYP: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Disease Identifiers
MONDO ID
MONDO_0014758
UMLS CUI
C4225221
OMIM ID
616738
MedGen ID
901732

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MECOM OTP983W8 Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.