MCID: BLP015
MIFTS: 24

Blepharospasm, Primary Benign malady

Neuronal diseases, Rare diseases, Eye diseases categories

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 benign essential blepharospasm, is related to blepharospasm and hemifacial spasm, and has symptoms including emg abnormality, photophobia and keratoconjunctivitis sicca. 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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Sources:
46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Blepharospasm, Primary Benign, Aliases & Descriptions:

Name: Blepharospasm, Primary Benign 46
Benign Essential Blepharospasm 48 61
 
Primary Blepharospasm 48 61


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
benign essential blepharospasm:
Prevalence: 1-9/100000; Age of onset: Adulthood


External Ids:

OMIM46 606798
MESH via Orphanet35 C535428, C567890
ICD10 via Orphanet27 G24.5
UMLS via Orphanet62 C2930898

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
1blepharospasm11.1
2hemifacial spasm10.7
3dystonia10.4
4entropion10.2
5eye disease10.2
6migraine10.2
7cervical dystonia10.1
8cervicitis10.1

Graphical network of 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

Symptoms:

 48 (show all 12)
  • anomalies of eyes and vision
  • movement disorder
  • dystonia/torticollis/writer's cramp/blepharospasms
  • muscle anomalies
  • abnormal emg/electromyogram/electropmyography
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • xerophthalmia/dry eyes
  • photophobia
  • visual loss/blindness/amblyopia
  • tremor
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • autosomal dominant inheritance

HPO human phenotypes related to Blepharospasm, Primary Benign:

(show all 9)
id Description Frequency HPO Source Accession
1 emg abnormality hallmark (90%) HP:0003457
2 photophobia typical (50%) HP:0000613
3 keratoconjunctivitis sicca typical (50%) HP:0001097
4 visual impairment occasional (7.5%) HP:0000505
5 tremor occasional (7.5%) HP:0001337
6 flexion contracture occasional (7.5%) HP:0001371
7 blepharospasm HP:0000643
8 middle age onset HP:0003596
9 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:

32
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 Name Type Significance SNP ID Assembly Location
1DRD5DRD5, (CT/GT/GA)nundetermined variantPathogenic

Expression for genes affiliated with Blepharospasm, Primary Benign

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Expression patterns in normal tissues for genes affiliated with Blepharospasm, Primary Benign

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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet