Details of Disease | DrugMAP

General Information of Disease (ID: DIS4AYIE)

Disease Name	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Disease Hierarchy	DISV66YX: Progressive muscular dystrophy DIS4AYIE: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Disease Identifiers	MONDO ID MONDO_0018759 UMLS CUI C5568863 MedGen ID 1800286 Orphanet ID 466921 SNOMED CT ID 1187251009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTN	OT0LZ058	Supportive	Autosomal recessive	[1]
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References

1	A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.