Details of Disease

General Information of Disease (ID: DISQE8QF)

Disease Name Congenital muscular dystrophy with cataracts and intellectual disability
Synonyms MDCCAID; muscular dystrophy, congenital, with cataracts and intellectual disability
Definition
A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
Disease Hierarchy
DISKY7OY: Congenital muscular dystrophy
DISQE8QF: Congenital muscular dystrophy with cataracts and intellectual disability
Disease Identifiers
MONDO ID
MONDO_0024607
UMLS CUI
C4479410
OMIM ID
617404
MedGen ID
1382291

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
INPP5K OTQFLQKA Strong Autosomal recessive [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.