Details of Disease

General Information of Disease (ID: DISQLATN)

• Disease Name: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
• Synonyms: cerebroocular dysplasia-muscular dystrophy syndrome; Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; cod-MD syndrome; MDDGA1; hydrocephalus, agyria, and retinal dysplasia; hard syndrome; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1; muscle-eye-brain-POMT1 related
• Definition: An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
• Disease Hierarchy:
  DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
  DISS717V: Myopathy caused by variation in POMT1
  DISJUOQB: Muscle-eye-brain disease
  DISQLATN: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
• Disease Identifiers:
  MONDO ID: MONDO_0009364
  MESH ID: D058494
  UMLS CUI: C4284790
  OMIM ID: 236670
  MedGen ID: 924974

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRPPA	OTC85K8Q	Strong	Biomarker	[1]
POMT1	OTGQSHL5	Definitive	Autosomal recessive	[2]

References

• [1] ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.
• [2] 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.