Muscular dystrophy, congenital, due to integrin alpha-7 deficiency

Preferred Label : Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, congenital, due to integrin alpha-7 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the integrin alpha-7 gene (ITGA7, 600536.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613204;

Details

Origin ID

613204;

UMLS CUI

C2750786;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
- Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) [SNOMED CT concept]
- congenital muscular dystrophy due to integrin alpha-7 deficiency [DO Concept]
- muscular dystrophy, congenital, due to integrin Alpha-7 deficiency [MeSH concept]
- muscular dystrophy, congenital, due to integrin Alpha-7 deficiency [MeSH Supplementary Concept]
DO Cross reference
- congenital muscular dystrophy due to integrin alpha-7 deficiency [DO Concept]
Genes related to phenotype
- Integrin, alpha-7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Congenital muscular dystrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile muscular hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Neonatal hypotonia [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
- Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) [SNOMED CT concept]
- congenital muscular dystrophy due to integrin alpha-7 deficiency [DO Concept]
- muscular dystrophy, congenital, due to integrin Alpha-7 deficiency [MeSH Supplementary Concept]
- muscular dystrophy, congenital, due to integrin Alpha-7 deficiency [MeSH concept]

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