Ullrich congenital muscular dystrophy

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Information
Disease name
Ullrich congenital muscular dystrophy
Disease ID
DOID:0050558
Description
"A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes." [url:https\://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
COL6A1 21 45,981,770 46,005,048 20
COL6A3 2 237,324,018 237,414,164 12
COL6A2 21 46,098,112 46,132,848 8
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01438788 Completed Phase 2 Low Protein Diet in Patients With Collagen VI Related Myopathies October 2011 September 2013
Disase is a (Disease Ontology)
DOID:0050557
Cross Reference ID (Disease Ontology)
GARD:4769
Cross Reference ID (Disease Ontology)
ORDO:75840
Exact Synonym (Disease Ontology)
ULLRICH DISEASE
Exact Synonym (Disease Ontology)
Ullrich scleroatonic muscular dystrophy
OMIM Phenotype Series Number (OMIM)
PS254090
MedGen concept unique identifier (MedGen Concept name)
C0410179
MedGen unique identifier (MedGen Concept name)
98046