Blepharospasm, benign essential, susceptibility to

Preferred Label : Blepharospasm, benign essential, susceptibility to;

Type : Phenotype, molecular basis known;

Description : Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. In severe cases, this can lead to functional blindness (summary by Misbahuddin et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by allele 2 of the dinucleotide repeat in the dopamine receptor gene (DRD5, 126453.0001);

Prefixed ID : #606798;

Details

Origin ID

606798;

UMLS CUI

C4692845;

Automatic exact mappings (from CISMeF team)
- Spasmus nictitans (finding) [SNOMED CT concept]
- benign essential blepharospasm [MeSH concept]
- benign essential blepharospasm [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- BLEPHAROSPASM [WHO-ART Preferred Term]
- Benign essential blepharospasm [ORDO Disease]
- Blepharospasm [PASCAL descriptor]
- Blepharospasm [ICD-10 Sub-category]
- Blepharospasm [NCIt concept]
- Blepharospasm [ICD-10 Sub-category (who)]
- Blepharospasm [HPO term]
- Blepharospasm [MedDRA Preferred Term]
- Blepharospasm (disorder) [SNOMED CT concept]
- blepharospasm [MeSH concept]
- blepharospasm [SNOMED Notion]
- blepharospasm [MeSH Descriptor]
- eyelid spasm [Disease (Nov.)]
Genes related to phenotype
- Dopamine receptor d5 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharospasm [HPO term]
- Isolated cases [HPO term]
- Middle age onset [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Benign essential blepharospasm [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- benign essential blepharospasm [MeSH Supplementary Concept]
- benign essential blepharospasm [MeSH concept]

Keyword's position in hierarchy(ies) :

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