Details of Disease

General Information of Disease (ID: DISPPX84)

• Disease Name: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
• Synonyms: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2; muscle-eye-brain-POMT2 related; MDDGA2; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related
• Definition: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
• Disease Hierarchy:
  DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
  DISRHLQP: Myopathy caused by variation in POMT2
  DISJUOQB: Muscle-eye-brain disease
  DISPPX84: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
• Disease Identifiers:
  MONDO ID: MONDO_0013154
  UMLS CUI: C3150411
  OMIM ID: 613150
  MedGen ID: 461761

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMT2	OTO1ZQZX	Definitive	Autosomal recessive	[1]

References

• [1] POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord. 2006 Jul;16(7):446-8. doi: 10.1016/j.nmd.2006.03.016. Epub 2006 May 15.