Ullrich congenital muscular dystrophy 1a

Preferred Label : Ullrich congenital muscular dystrophy 1a;

Symbol : UCMD1A;

CISMeF acronym : UCMD1; LGMDR22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ullrich disease; Muscular dystrophy, scleroatonic; Ullrich scleroatonic muscular dystrophy; Ullrich congenital muscular dystrophy; UCMD;

Included titles and symbols : UCMD1A/1B, DIGENIC; Ullrich congenital muscular dystrophy 1a/1b, digenic;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the collagen VI, alpha-3 polypeptide gene (COL6A3, 120250.0002); Caused by mutation in the collagen VI, alpha-1 polypeptide gene (COL6A1, 120220.0007); Caused by mutation in the collagen VI, alpha-2 polypeptide gene (COL6A2, 120240.0002);

Laboratory abnormalities : Normal to mildly increased serum creatine kinase;

Prefixed ID : #254090;

Details

Origin ID

254090;

UMLS CUI

C0410179;

Automatic exact mappings (from CISMeF team)
- COL6A3 wt Allele [NCIt concept]
- Ullrich congenital muscular dystrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy, Ullrich type [ORDO Disease]
- Scleroatonic muscular dystrophy [MeSH concept]
- Ullrich Congenital Muscular Dystrophy [NCIt concept]
- Ullrich congenital muscular dystrophy [PASCAL descriptor]
- Ullrich congenital muscular dystrophy [DO Concept]
- Ullrich congenital muscular dystrophy (disorder) [SNOMED CT concept]
- congenital hypotonic sclerotic muscular dystrophy [Disease (Nov.)]
- scleroatonic muscular dystrophy [MeSH Supplementary Concept]
DO Cross reference
- Ullrich congenital muscular dystrophy [DO Concept]
Genes related to phenotype
- Collagen, type VI, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Distal joint laxity [HPO term]
- Facial muscle weakness, mild [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Follicular hyperkeratosis [HPO term]
- Generalized amyotrophy [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hyperextensibility at wrists [HPO term]
- Hyperhidrosis [HPO term]
- Increased laxity of ankles [HPO term]
- Increased laxity of fingers [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Motor delay [HPO term]
- Muscle fiber necrosis [HPO term]
- Neonatal hypotonia [HPO term]
- Nocturnal hypoventilation [HPO term]
- Progressive [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Proximal muscle weakness [HPO term]
- Recurrent chest infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Reduced muscle collagen VI [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Slender build [HPO term]
- Spinal rigidity [HPO term]
- Talipes equinovarus [HPO term]
- Torticollis [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy, Ullrich type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy, Ullrich type [ORDO Disease]
- Scleroatonic muscular dystrophy [MeSH concept]
- Ullrich Congenital Muscular Dystrophy [NCIt concept]
- scleroatonic muscular dystrophy [MeSH Supplementary Concept]

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