Details of Disease

General Information of Disease (ID: DISK4LYQ)

Disease Name Fatal infantile hypertonic myofibrillar myopathy
Synonyms
myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; MFM, fatal infantile hypertonic, alpha-B crystallin-related; myofibrillar myopathy type 7; alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy; fatal infantile hypertonic myofibrillar myopathy
Disease Hierarchy
DISF24LW: Myofibrillar myopathy
DISK4LYQ: Fatal infantile hypertonic myofibrillar myopathy
Disease Identifiers
MONDO ID
MONDO_0013472
UMLS CUI
C5190691
OMIM ID
613869
MedGen ID
1684001
Orphanet ID
280553
SNOMED CT ID
782883004

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
CRYAB OTY4JGYU Strong Autosomal recessive [1]
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References

1 AlphaB-crystallin in lens development and muscle integrity: a gene knockout approach. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2924-34.