Details of Disease

General Information of Disease (ID: DISG0ROB)

Disease Name Thrombocytopenia 4
Synonyms thrombocytopenia, autosomal dominant, 4; THC4; thrombocytopenia 4; thrombocytopenia type 4; CYCS thrombocytopenia; thrombocytopenia caused by mutation in CYCS
Definition Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.
Disease Hierarchy
DISANU9Q: Inherited thrombocytopenia
DISG0ROB: Thrombocytopenia 4
Disease Identifiers
MONDO ID
MONDO_0012775
MESH ID
C567438
UMLS CUI
C2677608
OMIM ID
612004
MedGen ID
394329

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
CYCS OTBFALJD Strong Autosomal dominant [1]
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References

1 A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet. 2008 Apr;40(4):387-9. doi: 10.1038/ng.103. Epub 2008 Mar 16.