MCID: BLP015
MIFTS: 19

Blepharospasm, Primary Benign malady

Neuronal diseases category

Summaries for Blepharospasm, Primary Benign

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Sources:
46OMIM, 32MalaCards
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MalaCards: Blepharospasm, Primary Benign, also known as benign essential blepharospasm, is related to blepharospasm and entropion, 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:46 606798

Aliases & Classifications for Blepharospasm, Primary Benign

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

blepharospasm, primary benign 46
benign essential blepharospasm 48 60
primary blepharospasm 48


External Ids:

OMIM46 606798
ICD10 via Orphanet26 G24.5

Related Diseases for Blepharospasm, Primary Benign

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Sources:
17GeneCards, 18GeneDecks
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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
2entropion10.2
3eye disease10.2
4glaucoma10.2
5migraine10.2
6cervicitis10.0

Graphical network of diseases related to Blepharospasm, Primary Benign:



Diseases related to blepharospasm, primary benign

Clinical Features for Blepharospasm, Primary Benign

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

606798

Clinical synopsis from OMIM:

606798

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Genetic Tests for Blepharospasm, Primary Benign

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Anatomical Context for Blepharospasm, Primary Benign

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32MalaCards
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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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Genetic Variations for Blepharospasm, Primary Benign

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Expression for genes affiliated with Blepharospasm, Primary Benign

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet