Details of Disease | DrugMAP

General Information of Disease (ID: DISJWD0V)

Disease Name	Ullrich congenital muscular dystrophy
Synonyms	late onset scleroatonic familial myopathy (subtype); congenital muscular dystrophy, Ullrich type; Ullrich disease; scleroatonic muscular dystrophy; scleroatonic Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD
Definition	Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Disease Hierarchy	DISKY7OY: Congenital muscular dystrophy DISLSK9G: Congenital myopathy DISJWD0V: Ullrich congenital muscular dystrophy
Disease Identifiers	MONDO ID MONDO_0000355 UMLS CUI C4551860 MedGen ID 1642667 Orphanet ID 75840 SNOMED CT ID 240062007

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
COL6A3	TT5WCAH	Supportive	Autosomal dominant	[1]
COL6A3	TT5WCAH	Strong	Genetic Variation	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL12A1	OTHLTV53	Supportive	Autosomal dominant	[3]
COL6A1	OTYKSCOB	Supportive	Autosomal dominant	[1]
COL6A2	OTQC6PPO	Supportive	Autosomal dominant	[1]
COL6A3	OTAS6R6I	Supportive	Autosomal dominant	[1]
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References

1	Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.
2	Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9.
3	Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.