Details of Disease

General Information of Disease (ID: DIS95RCP)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Synonyms
Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; MDDGA3; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3; muscle-eye-brain-POMGNT1 related
Definition
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISJUOQB: Muscle-eye-brain disease
DIS0B8FY: Myopathy caused by variation in POMGNT1
DIS95RCP: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Disease Identifiers
MONDO ID
MONDO_0009667
UMLS CUI
C3151519
OMIM ID
253280
MedGen ID
462869

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
POMGNT1 OTBNOUZC Definitive 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.