Details of Disease

General Information of Disease (ID: DISVFPSL)

• Disease Name: Rippling muscle disease 2
• Synonyms: muscular dystrophy, limb-girdle, type IC; muscular dystrophy, limb-girdle, type 1C; limb-girdle muscular dystrophy type 1C; limb-girdle muscular dystrophy due to caveolin-3 deficiency; LGMD1C; autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3; CAV3 rippling muscle disease; rippling muscle disease caused by mutation in CAV3; rippling muscle disease 2; muscular dystrophy limb-girdle type IC; CAV3 autosomal dominant limb-girdle muscular dystrophy; rippling muscle disease type 2; RMD2
• Definition: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.
• Disease Hierarchy:
  DISURBY5: Inherited rippling muscle disease
  DISVFPSL: Rippling muscle disease 2
• Disease Identifiers:
  MONDO ID: MONDO_0019947
  MESH ID: C535686
  UMLS CUI: C1832560
  OMIM ID: 606072
  MedGen ID: 371357

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
CAV3	OTWSFDB4	Moderate	Autosomal dominant	[1]
SSUH2	OTWUBDV0	Strong	Genetic Variation	[2]

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.
• [2] Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.J Neuromuscul Dis. 2016 May 27;3(2):209-225. doi: 10.3233/JND-160151.