MCID: BLP015
MIFTS: 23

Blepharospasm, Primary Benign malady

Neuronal diseases, Rare diseases, Eye diseases categories

Summaries for Blepharospasm, Primary Benign

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48OMIM, 34MalaCards
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MalaCards: Blepharospasm, Primary Benign, also known as benign essential blepharospasm, is related to blepharospasm and hemifacial spasm, and has symptoms including autosomal dominant inheritance, contractures/cramps/trismus/tetania/claudication/opisthotonos and tremor. An important gene associated with Blepharospasm, Primary Benign is DRD5 (dopamine receptor D5). Affiliated tissues include eye.

Description from OMIM:48 606798

Aliases & Classifications for Blepharospasm, Primary Benign

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Sources:
50Orphanet, 63UMLS, 48OMIM, 64UMLS via Orphanet, 27ICD10 via Orphanet, 37MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
benign essential blepharospasm:
Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

blepharospasm, primary benign 48
benign essential blepharospasm 50 63
primary blepharospasm 50


External Ids:

UMLS via Orphanet64 C2930898
OMIM48 606798
ICD10 via Orphanet27 G24.5
MESH via Orphanet37 C535428, C567890

Related Diseases for Blepharospasm, Primary Benign

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18GeneCards, 19GeneDecks
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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
4meigs syndrome10.4
5entropion10.2
6eye disease10.2
7glaucoma10.2
8migraine10.2
9cervical dystonia10.0
10cervicitis10.0

Graphical network of diseases related to Blepharospasm, Primary Benign:



Diseases related to blepharospasm, primary benign

Symptoms for Blepharospasm, Primary Benign

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

606798

Clinical features from OMIM:

606798

Symptoms:

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

Drugs & Therapeutics for Blepharospasm, Primary Benign

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Blepharospasm, Primary Benign

Drug clinical trials:

Search ClinicalTrials for Blepharospasm, Primary Benign

Search NIH Clinical Center for Blepharospasm, Primary Benign

Search CenterWatch for Blepharospasm, Primary Benign

Genetic Tests for Blepharospasm, Primary Benign

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Anatomical Context for Blepharospasm, Primary Benign

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34MalaCards
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MalaCards organs/tissues related to Blepharospasm, Primary Benign:

34
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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Blepharospasm, Primary Benign:

1
id Gene Name Type Significance SNP ID Assembly Location
1DRD5DRD5, (CT/GT/GA)nundetermined variantPathogenic/card/blepharospasm_primary_benign

Expression for genes affiliated with Blepharospasm, Primary Benign

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

Sources for Blepharospasm, Primary Benign

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet