Details of Disease

General Information of Disease (ID: DIS6HOFN)

• Disease Name: Congenital muscular dystrophy due to integrin alpha-7 deficiency
• Synonyms: muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency; muscular dystrophy, congenital, due to ITGA7 deficiency; myopathy, congenital, due to integrin Alpha-7 deficiency; congenital muscular dystrophy with ITGA7 deficiency; ITGA7 congenital muscular dystrophy; congenital muscular dystrophy caused by mutation in ITGA7; congenital muscular dystrophy with integrin alpha-7 deficiency; congenital myopathy due to integrin alpha-7 deficiency
• Definition: Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
• Disease Hierarchy:
  DISKY7OY: Congenital muscular dystrophy
  DIS6HOFN: Congenital muscular dystrophy due to integrin alpha-7 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013177
  MESH ID: C567709
  UMLS CUI: C2750786
  OMIM ID: 613204
  MedGen ID: 413044
  Orphanet ID: 34520
  SNOMED CT ID: 771267003

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
ITGA7	OTTBTAYW	Strong	Autosomal recessive	[1]

References

• [1] Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Orphanet J Rare Dis. 2013 Jun 21;8:91. doi: 10.1186/1750-1172-8-91.