Myopathy, centronuclear, 6, with fiber-type disproportion

Preferred Label : Myopathy, centronuclear, 6, with fiber-type disproportion;

Symbol : CNM6;

CISMeF acronym : CNM6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine zipper- and sterile alpha motif-containing kinase gene (ZAK, 609479.0003);

Laboratory abnormalities : Normal or mildly increased serum creatine kinase;

Prefixed ID : #617760;

Details

Origin ID

617760;

UMLS CUI

C4540345;

Automatic exact mappings (from CISMeF team)
- centronuclear myopathy 6 with fiber-type disproportion [DO Concept]
Currated CISMeF NLP mapping
- Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder) [SNOMED CT concept]
DO Cross reference
- centronuclear myopathy 6 with fiber-type disproportion [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase kinase 20 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Distal muscle weakness [HPO term]
- Easy fatigability [HPO term]
- Generalized hypotonia [HPO term]
- Hyperlordosis [HPO term]
- Increased connective tissue [HPO term]
- Motor delay [HPO term]
- Muscle spasm [HPO term]
- Proximal muscle weakness [HPO term]
- Reduced vital capacity [HPO term]
- Rimmed vacuoles [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Congenital fiber-type disproportion myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients