Nonaka myopathy

Preferred Label : Nonaka myopathy;

Symbol : NM;

CISMeF acronym : HIBM; IBM2; NM; QSM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gne myopathy; Inclusion body myopathy 2, autosomal recessive; Inclusion body myopathy, hereditary, autosomal recessive; IBM2; Myopathy, distal, with or without rimmed vacuoles; Nonaka distal myopathy; Inclusion body myopathy, quadriceps-sparing; HIBM; QSM;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, 603824.0012);

Laboratory abnormalities : Increased creatine phosphokinase (CPK);

Prefixed ID : #605820;

Détails

Origin ID

605820;

UMLS CUI

C1853926;

Automatic exact mappings (from CISMeF team)
- GNE myopathy [DO Concept]
- Hereditary inclusion body myopathy [ICD-11 More detail]
- Nanometer [NCIt concept]
- Nanometer (qualifier value) [SNOMED CT concept]
- Nanomole/liter (qualifier value) [SNOMED CT concept]
- Nemaline myopathy [ORDO Disease]
- New Mexico [NCIt concept]
- Nonaka myopathy [ICD-11 More detail]
- inclusion body myopathy autosomal recessive [MeSH Supplementary Concept]
- inclusion body myositis [DO Concept]
- neutrophil migration [HGNC gene]
Currated CISMeF NLP mapping
- Distal myopathy, Nonaka type [MeSH concept]
- GNE myopathy [MedDRA Preferred Term]
- GNE myopathy [ORDO Disease]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Nonaka Myopathy [NCIt concept]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- hereditary inclusion body myopathy [Disease (Nov.)]
DO Cross reference
- GNE myopathy [DO Concept]
False automatic mappings
- Nuclear Medicine Study File [NCIt concept]
Genes related to phenotype
- Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Deposits immunoreactive to beta-amyloid protein [HPO term]
- Distal amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait disturbance [HPO term]
- Rimmed vacuoles [HPO term]
ORDO concept(s)
- GNE myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal myopathy, Nonaka type [MeSH concept]
- GNE myopathy [ORDO Disease]
- GNE myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA Preferred Term]
- Hereditary inclusion body myopathy [MedDRA LLT]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Nonaka Myopathy [NCIt concept]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- hereditary inclusion body myopathy [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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