Nemaline myopathy 6

Preferred Label : Nemaline myopathy 6;

Symbol : NEM6;

CISMeF acronym : NEM6;

Type : Phenotype, molecular basis known;

Description : Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Kelch repeat and BTB/POZ domains-containing protein 13 gene (KBTBD13, 613727.0001).;

Prefixed ID : #609273;

Details

Origin ID

609273;

UMLS CUI

C1836472;

Broader ORDO disease(s)
- Nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Nemaline myopathy 6 [MeSH concept]
- nemaline myopathy 6 [DO Concept]
- nemaline myopathy 6 [MeSH Supplementary Concept]
DO Cross reference
- nemaline myopathy 6 [DO Concept]
Genes related to phenotype
- Kelch repeat- and btb/poz domain-containing protein 13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- Exercise intolerance [HPO term]
- Gait disturbance [HPO term]
- Limb muscle weakness [HPO term]
- Muscle stiffness [HPO term]
- Myopathy [HPO term]
- Neck flexor weakness [HPO term]
- Nemaline bodies [HPO term]
- Slowly progressive [HPO term]
Not associated HPO term(s)
- Facial palsy [HPO term]
ORDO concept(s)
- Childhood-onset nemaline myopathy [ORDO Disease]
See also inter- (CISMeF)
- kelch repeat and BTB domain containing 13 [ORDO Gene]
- kelch repeat and BTB domain containing 13 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline myopathy 6 [MeSH concept]
- nemaline myopathy 6 [MeSH Supplementary Concept]
- nemaline myopathy 6 [DO Concept]
Validated automatic mappings to NTBT
- Nemaline myopathy [ORDO Disease]

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