Nemaline myopathy 8

Preferred Label : Nemaline myopathy 8;

Symbol : NEM8;

CISMeF acronym : NEM8;

Type : Phenotype, molecular basis known;

Description : Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Kelch-like 40 gene (KLHL40, 615340.0001).;

Prefixed ID : #615348;

Details

Origin ID

615348;

UMLS CUI

C3809209;

Automatic exact mappings (from CISMeF team)
- kelch like family member 40 [ORDO Gene]
- kelch like family member 40 [HGNC gene]
Currated CISMeF NLP mapping
- Nemaline Myopathy 8 [NCIt concept]
- nemaline myopathy 8 [DO Concept]
DO Cross reference
- nemaline myopathy 8 [DO Concept]
Genes related to phenotype
- Kelch-like 40: klhl40 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Dysphagia [HPO term]
- Facial palsy [HPO term]
- Fetal akinesia sequence [HPO term]
- Flexion contracture [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Muscle weakness [HPO term]
- Myofibrillar myopathy [HPO term]
- Nemaline bodies [HPO term]
- Ophthalmoparesis [HPO term]
- Polyhydramnios [HPO term]
- Respiratory failure [HPO term]
ORDO concept(s)
- Severe congenital nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline Myopathy 8 [NCIt concept]
- nemaline myopathy 8 [DO Concept]

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