Myopathy, centronuclear, 5

Preferred Label : Myopathy, centronuclear, 5;

Symbol : CNM5;

CISMeF acronym : CNM5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SPEG complex locus gene (SPEG, 615950.0001);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #615959;

Details

Origin ID

615959;

UMLS CUI

C4014814;

Automatic exact mappings (from CISMeF team)
- SPEG wt Allele [NCIt concept]
- centronuclear myopathy 5 [DO Concept]
DO Cross reference
- centronuclear myopathy 5 [DO Concept]
Genes related to phenotype
- Speg complex locus [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Dilated cardiomyopathy [HPO term]
- Facial palsy [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Hip contracture [HPO term]
- Infantile onset [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Ophthalmoplegia [HPO term]
- Respiratory insufficiency [HPO term]
- Retrognathia [HPO term]
- Severe muscular hypotonia [HPO term]
Not associated HPO term(s)
- Abnormal circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Autosomal recessive centronuclear myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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