Details of Disease

General Information of Disease (ID: DISUHXLH)

Disease Name Dilated cardiomyopathy 1II
Synonyms
cardiomyopathy, dilated, 1II; familial isolated dilated cardiomyopathy caused by mutation in CRYAB; CMD1II; dilated cardiomyopathy type 1II; cardiomyopathy, dilated, type 1II; CRYAB familial isolated dilated cardiomyopathy
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISUHXLH: Dilated cardiomyopathy 1II
Disease Identifiers
MONDO ID
MONDO_0014073
UMLS CUI
C3554649
OMIM ID
615184
MedGen ID
767563

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
CRYAB TT7RUHB Limited Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYAB OTY4JGYU Limited Autosomal dominant [2]
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References

1 The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21.
2 Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol. 2003 Dec;54(6):804-10. doi: 10.1002/ana.10767.