UCMD1
MCID: ULL002
MIFTS: 57
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Ullrich Congenital Muscular Dystrophy 1 (UCMD1)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Ullrich Congenital Muscular Dystrophy 1:
Characteristics:Orphanet epidemiological data:58
congenital muscular dystrophy, ullrich type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
onset in infancy variable severity progressive disorder bethlem myopathy is an allelic disorder with a milder phenotype and autosomal dominant inheritance a subset of patients have heterozygous mutations consistent with a dominant-negative effect HPO:31
ullrich congenital muscular dystrophy 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Onset and clinical course variable expressivity infantile onset progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Respiratory diseases
ICD10:
33
Orphanet: 58
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GARD :
20
Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.
MalaCards based summary : Ullrich Congenital Muscular Dystrophy 1, also known as ullrich congenital muscular dystrophy, is related to collagen vi-related myopathy and collagen type vi-related disorders, and has symptoms including torticollis An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include skin, skeletal muscle and heart, and related phenotypes are kyphosis and elevated serum creatine kinase Disease Ontology : 12 A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has material basis in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. OMIM® : 57 Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). (254090) (Updated 05-Mar-2021) KEGG : 36 Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease. UniProtKB/Swiss-Prot : 73 Ullrich congenital muscular dystrophy 1: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. |
Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:58 31 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:254090 (Updated 05-Mar-2021)UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:torticollis |
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MalaCards organs/tissues related to Ullrich Congenital Muscular Dystrophy 1:40
Skin,
Skeletal Muscle,
Heart
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Articles related to Ullrich Congenital Muscular Dystrophy 1:(show top 50) (show all 162)
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ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:6 (show top 50) (show all 746)
UniProtKB/Swiss-Prot genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:73
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Search
GEO
for disease gene expression data for Ullrich Congenital Muscular Dystrophy 1.
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Pathways related to Ullrich Congenital Muscular Dystrophy 1 according to KEGG:36
Pathways related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:(show all 13)
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Cellular components related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
Molecular functions related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
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