MCID: CRB143

Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant malady

Neuronal, Ear, Fetal categories

Summaries for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Sources:
47OMIM, 33MalaCards
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MalaCards: Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant, is also known as autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome An important gene associated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant is DNMT1 (DNA (cytosine-5-)-methyltransferase 1).

Description from OMIM:47 604121

Aliases & Classifications for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Sources:
47OMIM, 49Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Ear


Characteristics (Orphanet epidemiological data):

49
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 47
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome 49
cerebellar ataxia-deafness-narcolepsy syndrome 49
adca-dn 49


External Ids:

OMIM47 604121

Related Diseases for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Clinical Features for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Sources:
47OMIM
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Clinical features from OMIM:

604121

Clinical synopsis from OMIM:

604121

Drugs & Therapeutics for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Search NIH Clinical Center for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Search CenterWatch for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Genetic Tests for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Anatomical Context for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Animal Models for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Genetic Variations for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

63
id Symbol AA change Variation SNP ID
1DNMT1p.Ala554ValVAR_070055
2DNMT1p.Gly589AlaVAR_070056
3DNMT1p.Val590PheVAR_070057

Expression for genes affiliated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Search GEO for disease gene expression data for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant.

Pathways for genes affiliated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Compounds for genes affiliated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

GO Terms for genes affiliated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Products for genes affiliated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet