Myosclerosis, autosomal recessive

Preferred Label : Myosclerosis, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, myosclerotic; Myosclerosis, congenital, of lowenthal;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen VI, alpha-2 gene (COL6A2, 120240.0011);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #255600;

Details

Origin ID

255600;

UMLS CUI

C1850671;

Automatic exact mappings (from CISMeF team)
- Myosclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- myosclerosis, autosomal recessive [MeSH concept]
- myosclerosis, autosomal recessive [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type VI, alpha-2 [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased pulmonary function [HPO term]
- Distal muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Lumbar hyperlordosis [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Reduced forced vital capacity [HPO term]
- Restricted neck movement due to contractures [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spinal rigidity [HPO term]
- Thoracolumbar scoliosis [HPO term]
ORDO concept(s)
- Myosclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myosclerosis [MedDRA Preferred Term]
- Myosclerosis (disorder) [SNOMED CT concept]
- myosclerosis, autosomal recessive [MeSH Supplementary Concept]
- myosclerosis, autosomal recessive [MeSH concept]
- myosclerotic myopathy [Disease (Nov.)]

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