Oculopharyngodistal myopathy 2

Preferred Label : Oculopharyngodistal myopathy 2;

Symbol : OPDM2;

CISMeF acronym : OPDM2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by trinucleotide repeat expansion (GGC)n in the GIPC PDZ domain-containing family, member 1 gene (GIPC1, 605072.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #618940;

Détails

Origin ID

618940;

UMLS CUI

C5394548;

Currated CISMeF NLP mapping
- Oculopharyngodistal Myopathy 2 [NCIt concept]
Genes related to phenotype
- Gipc pdz domain-containing family, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bulbar palsy [HPO term]
- Distal muscle weakness [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- External ophthalmoplegia [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Increased endomysial connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Ptosis [HPO term]
- Rimmed vacuoles [HPO term]
- Weakness of facial musculature [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Oculopharyngodistal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculopharyngodistal Myopathy 2 [NCIt concept]
Validated automatic mappings to NTBT
- Oculopharyngodistal myopathy [ORDO Disease]

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

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