MCID: BLP015
MIFTS: 21

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 49 11
Benign Essential Blepharospasm 67
 
Beb 67


Classifications:



External Ids:

OMIM49 606798
MeSH36 D001764

Summaries for Blepharospasm, Primary Benign

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UniProtKB/Swiss-Prot:67 Benign essential blepharospasm: A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.

MalaCards based summary: Blepharospasm, Primary Benign, also known as benign essential blepharospasm, is related to meige syndrome and movement disease, 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.

OMIM:49 Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age.... (606798) more...

Related Diseases for Blepharospasm, Primary Benign

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Graphical network of the top 20 diseases related to Blepharospasm, Primary Benign:



Diseases related to blepharospasm, primary benign

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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Drugs for Blepharospasm, Primary Benign (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Botulinum Toxins, Type A561
2Botulinum Toxins590

Interventional clinical trials:

idNameStatusNCT IDPhase
1rTMS and Botulinum Toxin in Benign Essential BlepharospasmRecruitingNCT02370875
2Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of BlepharospasmRecruitingNCT02327728

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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:

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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GO Terms for genes affiliated with Blepharospasm, Primary Benign

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Sources for Blepharospasm, Primary Benign

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet