Details of Disease

General Information of Disease (ID: DISP2UZU)

• Disease Name: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
• Synonyms: MDDGA7; muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related; ISPD muscular dystrophy-dystroglycanopathy, type A
• Definition: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.
• Disease Hierarchy:
  DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
  DISX6ABY: Myopathy caused by variation in CRPPA
  DISP2UZU: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
• Disease Identifiers:
  MONDO ID: MONDO_0013835
  UMLS CUI: C3553330
  OMIM ID: 614643
  MedGen ID: 766244

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
CRPPA	OTC85K8Q	Definitive	Autosomal recessive	[1]

References

• [1] Walker-Warburg syndrome: neurologic features and muscle membrane structure. Pediatr Neurol. 1998 Jan;18(1):76-80. doi: 10.1016/s0887-8994(97)00137-9.