MCID: BLP015
MIFTS: 17

Blepharospasm, Primary Benign malady

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

Summaries for Blepharospasm, Primary Benign

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OMIM:47 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.

Aliases & Classifications for Blepharospasm, Primary Benign

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Blepharospasm, Primary Benign, Aliases & Descriptions:

Name: Blepharospasm, Primary Benign 47 11
Blepharospasm, Benign Essential 47
 
Benign Essential Blepharospasm 62
Primary Blepharospasm 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


External Ids:

OMIM47 606798

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/GeneDecks 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:

33
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:

7
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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Products for genes affiliated with Blepharospasm, Primary Benign

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Blepharospasm, Primary Benign

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet