Details of Disease

General Information of Disease (ID: DISQ34I5)

Disease Name Compton-North congenital myopathy
Synonyms MYPCN; congenital lethal myopathy, Compton-North type; myopathy, congenital, Compton-NORTH; Compton-North congenital myopathy
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISQ34I5: Compton-North congenital myopathy
Disease Identifiers
MONDO ID
MONDO_0012929
MESH ID
C567261
UMLS CUI
C2675527
OMIM ID
612540
MedGen ID
393406
Orphanet ID
210163

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CNTN1 TTPR8FK Disputed Biomarker [1]
CNTN1 TTPR8FK Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNTN1 OT7RNPEY Strong Autosomal recessive [2]
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References

1 A spontaneous mutation in contactin 1 in the mouse.PLoS One. 2011;6(12):e29538. doi: 10.1371/journal.pone.0029538. Epub 2011 Dec 29.
2 Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.