MCID: CRB142
MIFTS: 31

Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear 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 54 25 71 29 69
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome 50 25 56
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy 12 50 14
Adca-Dn Syndrome 50 25 56
Adcadn 50 25 71
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy 50 25
Adca-Dn 50

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
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 autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, is related to cerebellar ataxia and narcolepsy, and has symptoms including optic atrophy, ataxia 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.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on spinocerebellar ataxia.

Genetics Home Reference : 25 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.

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 cerebellar ataxia 10.5
2 narcolepsy 10.5
3 autosomal dominant cerebellar ataxia 10.1
4 herpes simiae 10.0 DNMT1 SPTLC1
5 interstitial emphysema 9.9 NAA50 SPTLC1
6 transmitted_by 9.9 NAA50 SPTLC1
7 febrile seizures, familial, 3b 9.8 NAA50 SPTLC1
8 hepatopulmonary syndrome 9.7 DNMT1 HCRT
9 decubitus ulcer 9.6 DNMT1 SPTLC1
10 mucolipidosis iv 8.1 DNMT1 HCRT HDAC2 NAA50 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:

54

Neurologic- Central Nervous System:
hyperreflexia
spasticity
memory loss
primitive reflexes
cerebellar ataxia
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:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 occasional (7.5%) HP:0000648
2 ataxia 32 HP:0001251
3 hyperreflexia 32 HP:0001347
4 spasticity 32 HP:0001257
5 depression 32 HP:0000716
6 cerebellar atrophy 32 HP:0001272
7 psychosis 32 occasional (7.5%) HP:0000709
8 memory impairment 32 HP:0002354
9 dementia 32 HP:0000726
10 sensorineural hearing impairment 32 HP:0000407
11 narcolepsy 32 HP:0030050
12 excessive daytime sleepiness 32 HP:0002189
13 cataplexy 32 HP:0002524
14 primitive reflex 32 HP:0002476

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id Genetic test Affiliating Genes
1 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 29

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

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

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

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

71
id 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
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.62 NAA50 SPTLC1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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