Details of Disease

General Information of Disease (ID: DISQ9F17)

• Disease Name: Congenital myasthenic syndrome 10
• Synonyms: myasthenic syndrome, congenital, 10; myasthenic myopathy; myasthenic myopathy, formerly; muscular dystrophy, congenital, merosin-POSITIVE; Cms Ib, formerly; myasthenia, limb-girdle, familial, formerly; congenital myasthenic syndrome type IB; congenital myasthenic syndrome type IB, formerly; myasthenia, limb-girdle, familial; CMS Ib; CMS1B; Cms Ib; DOK7 congenital myasthenic syndrome; congenital myasthenic syndrome caused by mutation in DOK7; CMS10; familial limb-girdle myasthenia; myasthenic syndrome, congenital, type 10; congenital myasthenic syndrome 10; LGM; congenital muscular dystrophy merosin-positive; congenital myasthenic syndrome type 10
• Definition: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.
• Disease Hierarchy:
  DIS92VN2: Postsynaptic congenital myasthenic syndrome
  DISJLG2T: Congenital myasthenic syndrome
  DISKY7OY: Congenital muscular dystrophy
  DISQ9F17: Congenital myasthenic syndrome 10
• Disease Identifiers:
  MONDO ID: MONDO_0009690
  MESH ID: C536089
  UMLS CUI: C1850792
  OMIM ID: 254300
  MedGen ID: 376880

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
DOK7	OTR2V7HO	Definitive	Autosomal recessive	[1]

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.