Oculopharyngeal muscular dystrophy 1

Preferred Label : Oculopharyngeal muscular dystrophy 1;

Symbol : OPMD1;

CISMeF acronym : OPMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, oculopharyngeal;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (GCG)n in the poly(A)-binding protein-2 gene (PABPN1, 602279.0001);

Prefixed ID : #164300;

Details

Origin ID

164300;

UMLS CUI

C0270952;

Currated CISMeF NLP mapping
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Oculopharyngeal Muscular Dystrophy [NCIt concept]
- Oculopharyngeal dystrophy [MedDRA Preferred Term]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy [ICD-11 More detail]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- muscular dystrophy, oculopharyngeal [MeSH Descriptor]
- muscular dystrophy, oculopharyngeal [MeSH concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
- oculopharyngeal muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
DO Cross reference
- oculopharyngeal muscular dystrophy [DO Concept]
Genes related to phenotype
- Polyadenylate-binding protein, nuclear, 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Facial palsy [HPO term]
- Gait abnormalities may occur [HPO term]
- Gait disturbance [HPO term]
- Limb muscle weakness [HPO term]
- Mask-like facies [HPO term]
- Neck muscle weakness [HPO term]
- Progressive [HPO term]
- Progressive ptosis [HPO term]
- Proximal muscle weakness [HPO term]
Not associated HPO term(s)
- Ragged-red muscle fibers [HPO term]
ORDO concept(s)
- Oculopharyngeal muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculopharyngeal Muscular Dystrophy [NCIt concept]
- Oculopharyngeal dystrophy [MedDRA Preferred Term]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- muscular dystrophy, oculopharyngeal [MeSH Descriptor]
- muscular dystrophy, oculopharyngeal [MeSH concept]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
- oculopharyngeal muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
Validated automatic mappings to NTBT
- muscular dystrophy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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