Details of Disease

General Information of Disease (ID: DIS3EQX0)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Synonyms
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; MDDGA8; Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8; POMGNT2 muscular dystrophy-dystroglycanopathy, type A; muscle-eye-brain-POMGNT2 related; muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2
Definition Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISAC1ZH: Congenital muscular dystrophy caused by variation in POMGNT2
DIS3EQX0: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Disease Identifiers
MONDO ID
MONDO_0013904
UMLS CUI
C3553813
OMIM ID
614830
MedGen ID
766727

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
POMGNT2 OT0S9Z0J Definitive Autosomal recessive [1]
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References

1 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.