MCID: CRB142
MIFTS: 33

Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Fetal diseases

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

MalaCards integrated aliases for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

Name: Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 53 24 71 28 69
Adcadn 53 49 24 71
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome 49 24 55
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy 12 49 14
Adca-Dn Syndrome 49 24 55
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy 49 24
Adca-Dn 49

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
adult onset (thirties to forties)
narcolepsy and deafness are the first symptoms


HPO:

31
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 71 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant: An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression.

MalaCards based summary : Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant, also known as adcadn, is related to narcolepsy and ataxia and polyneuropathy, adult-onset, and has symptoms including ataxia, spasticity and hyperreflexia. An important gene associated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant is DNMT1 (DNA Methyltransferase 1), and among its related pathways/superpathways is Macrophage Differentiation and Growth Inhibition by METS.

Genetics Home Reference : 24 Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Spinocerebellar ataxia.

OMIM : 53 ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression (summary by Winkelmann et al., 2012). (604121)

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

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 narcolepsy 30.3 DNMT1 HCRT
2 ataxia and polyneuropathy, adult-onset 10.5
3 branchiootic syndrome 1 10.5
4 aceruloplasminemia 10.5
5 ataxia-oculomotor apraxia 3 10.5
6 autosomal dominant cerebellar ataxia 10.5
7 hereditary sensory and autonomic neuropathy type 1e 10.0 DNMT1 SPTLC1
8 neuropathy, hereditary sensory, type ie 9.9 DNMT1 SPTLC1
9 tabes dorsalis 9.9 NAA50 SPTLC1
10 tertiary neurosyphilis 9.8 NAA50 SPTLC1
11 neuropathy 9.6 DNMT1 SPTLC1

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:



Diseases related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Symptoms & Phenotypes for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
memory loss
cerebellar ataxia
spasticity
hyperreflexia
dementia
more
Head And Neck Ears:
sensorineural deafness

Muscle Soft Tissue:
limb lymphedema (in some patients)

Laboratory Abnormalities:
decreased csf hypocretin

Head And Neck Eyes:
optic atrophy (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)
psychosis (in some patients)

Neurologic Peripheral Nervous System:
sensorimotor polyneuropathy


Clinical features from OMIM:

604121

Human phenotypes related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 spasticity 31 HP:0001257
3 hyperreflexia 31 HP:0001347
4 sensorineural hearing impairment 31 HP:0000407
5 optic atrophy 31 occasional (7.5%) HP:0000648
6 memory impairment 31 HP:0002354
7 psychosis 31 occasional (7.5%) HP:0000709
8 dementia 31 HP:0000726
9 cerebellar atrophy 31 HP:0001272
10 excessive daytime sleepiness 31 HP:0002189
11 cataplexy 31 HP:0002524
12 narcolepsy 31 HP:0030050
13 primitive reflex 31 HP:0002476
14 depressivity 31 HP:0000716

UMLS symptoms related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:


cerebellar ataxia, muscle spasticity, excessive daytime somnolence, memory loss

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

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

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

Genetic tests related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 28 DNMT1

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

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

Articles related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

# Title Authors Year
1
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration. ( 27869457 )
2016
2
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. ( 27602171 )
2016
3
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. ( 24709307 )
2014
4
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. ( 22328086 )
2012
5
Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy. ( 10599806 )
1999

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

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

71
# Symbol AA change Variation ID SNP ID
1 DNMT1 p.Ala554Val VAR_070055 rs397509392
2 DNMT1 p.Gly589Ala VAR_070056 rs397509393
3 DNMT1 p.Val590Phe VAR_070057 rs397509391

ClinVar genetic disease variations for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNMT1 NM_001130823.2(DNMT1): c.1816G> T (p.Val606Phe) single nucleotide variant Pathogenic rs397509391 GRCh37 Chromosome 19, 10265278: 10265278
2 DNMT1 NM_001130823.2(DNMT1): c.1709C> T (p.Ala570Val) single nucleotide variant Pathogenic rs397509392 GRCh37 Chromosome 19, 10265385: 10265385
3 DNMT1 NM_001130823.2(DNMT1): c.1814G> C (p.Gly605Ala) single nucleotide variant Pathogenic rs397509393 GRCh37 Chromosome 19, 10265280: 10265280

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

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

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

Pathways related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.34 DNMT1 HDAC2

GO Terms for Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Molecular functions related to Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.96 NAA50 SPTLC1
2 promoter-specific chromatin binding GO:1990841 8.62 DNMT1 HDAC2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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