Bethlem myopathy 1a

Preferred Label : Bethlem myopathy 1a;

Symbol : BTHLM1A;

CISMeF acronym : BTHLM1; LGMDD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, benign congenital, with contractures; Muscular dystrophy, benign congenital; Bethlem myopathy; Bethlem myopathy 1; BTHLM1;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the collagen VI, alpha-1 polypeptide gene (COL6A1, 120220.0001); Caused by mutation in the collagen VI, alpha-2 polypeptide gene (COL6A2, 120240.0001); Caused by mutation in the collagen VI, alpha-3 polypeptide gene (COL6A3, 120250.0001);

Laboratory abnormalities : Normal or increased serum creatine kinase;

Prefixed ID : #158810;

Details

Origin ID

158810;

UMLS CUI

C1834674;

Automatic exact mappings (from CISMeF team)
- COL6A3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Bethlem Myopathy 1 [NCIt concept]
- Bethlem myopathy [DO Concept]
- Bethlem myopathy [Disease (Nov.)]
- Bethlem myopathy [ICD-11 More detail]
- Bethlem myopathy [MeSH concept]
- Bethlem myopathy [ORDO Disease]
- Bethlem myopathy (disorder) [SNOMED CT concept]
- bethlem myopathy [MeSH Supplementary Concept]
DO Cross reference
- Bethlem myopathy [DO Concept]
Genes related to phenotype
- Collagen, type VI, alpha-1 [OMIM gene]
HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Ankle flexion contracture [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Congenital muscular torticollis [HPO term]
- Decreased fetal movement [HPO term]
- Distal muscle weakness [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Long, hyperextensible fingers [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
- Muscle weakness, severe [HPO term]
- Myopathy [HPO term]
- Neonatal hypotonia [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Torticollis [HPO term]
- Variable expressivity [HPO term]
- respiratory failure due to muscle weakness may occur in late stages [HPO term]
ORDO concept(s)
- Bethlem myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bethlem Myopathy 1 [NCIt concept]
- Bethlem myopathy [ORDO Disease]
- Bethlem myopathy [MeSH concept]
- Bethlem myopathy [DO Concept]
- Bethlem myopathy [Disease (Nov.)]
- Bethlem myopathy (disorder) [SNOMED CT concept]
- bethlem myopathy [MeSH Supplementary Concept]

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