MCID: CRB142
MIFTS: 19

Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant malady

Neuronal diseases, Ear diseases, Fetal diseases categories

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

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46OMIM, 32MalaCards
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MalaCards: Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant, also known as autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, is related to familial cerebral cavernous malformation 2 and cerebritis. An important gene associated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant is DNMT1 (DNA (cytosine-5-)-methyltransferase 1).

Description from OMIM:46 604121

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

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46OMIM, 48Orphanet, 60UMLS
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome 48
cerebellar ataxia-deafness-narcolepsy syndrome 48
cerebral cavernous malformations 2 60
adca-dn 48


External Ids:

OMIM46 604121

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

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17GeneCards, 18GeneDecks
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Diseases related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial cerebral cavernous malformation 210.4
2cerebritis10.3

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

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46OMIM
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Clinical features from OMIM:

604121

Clinical synopsis from OMIM:

604121

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

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5CenterWatch, 41NIH 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

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

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

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

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

62
id Symbol AA change Variation ID SNP ID
1DNMT1p.Ala554ValVAR_070055
2DNMT1p.Gly589AlaVAR_070056
3DNMT1p.Val590PheVAR_070057

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

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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

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

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

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

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

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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