MCID: BLP015
MIFTS: 13

Blepharospasm, Primary Benign malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Aliases & Classifications for Blepharospasm, Primary Benign

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Aliases & Descriptions for Blepharospasm, Primary Benign:

Name: Blepharospasm, Primary Benign 46 9
 
Blepharospasm, Benign Essential 46


Classifications:



External Ids:

OMIM46 606798

Summaries for Blepharospasm, Primary Benign

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OMIM:46 Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age.... (606798) more...

MalaCards based summary: Blepharospasm, Primary Benign, also known as blepharospasm, benign essential, is related to blepharospasm, and has symptoms including blepharospasm, middle age onset and sporadic. An important gene associated with Blepharospasm, Primary Benign is DRD5 (dopamine receptor D5). Affiliated tissues include eye.

Related Diseases for Blepharospasm, Primary Benign

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Diseases in the Blepharospasm family:

blepharospasm, primary benign

Diseases related to Blepharospasm, Primary Benign via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm10.7

Symptoms for Blepharospasm, Primary Benign

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Symptoms by clinical synopsis from OMIM:

606798

Clinical features from OMIM:

606798

HPO human phenotypes related to Blepharospasm, Primary Benign:

id Description Frequency HPO Source Accession
1 blepharospasm HP:0000643
2 middle age onset HP:0003596
3 sporadic HP:0003745

Drugs & Therapeutics for Blepharospasm, Primary Benign

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Drug clinical trials:

Search ClinicalTrials for Blepharospasm, Primary Benign

Search NIH Clinical Center for Blepharospasm, Primary Benign

Genetic Tests for Blepharospasm, Primary Benign

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Anatomical Context for Blepharospasm, Primary Benign

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MalaCards organs/tissues related to Blepharospasm, Primary Benign:

31
Eye

Animal Models for Blepharospasm, Primary Benign or affiliated genes

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Publications for Blepharospasm, Primary Benign

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Variations for Blepharospasm, Primary Benign

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Clinvar genetic disease variations for Blepharospasm, Primary Benign:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DRD5DRD5, (CT/GT/GA)nundetermined variantPathogenic

Expression for genes affiliated with Blepharospasm, Primary Benign

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Search GEO for disease gene expression data for Blepharospasm, Primary Benign.

Pathways for genes affiliated with Blepharospasm, Primary Benign

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Compounds for genes affiliated with Blepharospasm, Primary Benign

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GO Terms for genes affiliated with Blepharospasm, Primary Benign

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Sources for Blepharospasm, Primary Benign

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet