MCID: DNT016
MIFTS: 46

Dentatorubro-Pallidoluysian Atrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Dentatorubro-Pallidoluysian Atrophy

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 65UMLS, 67UniProtKB/Swiss-Prot, 47Novoseek, 51Orphanet, 24GTR, 36MeSH, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Dentatorubro-Pallidoluysian Atrophy:

Name: Dentatorubro-Pallidoluysian Atrophy 49 11
Dentatorubral-Pallidoluysian Atrophy 10 21 45 22 23 12 65 67
Drpla 10 21 45 22 23 47 51 67
Naito-Oyanagi Disease 10 21 23 51
Myoclonic Epilepsy with Choreoathetosis 45 23 65
Haw River Syndrome 10 45 23
 
Dentatorubral Pallidoluysian Atrophy 51 24
Dentatorubropallidoluysian Atrophy 45 51
Naito Oyanagi Disease 45 22
Nod 45 23
Ataxia, Chorea, Seizures, and Dementia 45
Myoclonic Epilepsies, Progressive 36


Classifications:



Characteristics (Orphanet epidemiological data):

51
drpla:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages


External Ids:

OMIM49 125370
Disease Ontology10 DOID:0060162
MeSH36 D020191
Orphanet51 101
ICD10 via Orphanet28 G11
UMLS via Orphanet66 C0751781

Summaries for Dentatorubro-Pallidoluysian Atrophy

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NIH Rare Diseases:45 Dentatorubral-pallidoluysian atrophy (drpla) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. the average age of onset of drpla is 30 years, but the condition can appear anytime from infancy to mid-adulthood. specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. drpla is caused by a mutation in the atn1 gene and is inherited in an autosomal dominant manner. treatment is symptomatic and supportive. last updated: 9/5/2012

MalaCards based summary: Dentatorubro-Pallidoluysian Atrophy, also known as dentatorubral-pallidoluysian atrophy, is related to huntington disease and cerebellar ataxia, and has symptoms including atrophy of the dentate nucleus, fetal cystic hygroma and ataxia. An important gene associated with Dentatorubro-Pallidoluysian Atrophy is ATN1 (Atrophin 1), and among its related pathways is Akt Signaling. Affiliated tissues include brain, and related mouse phenotypes are mortality/aging and growth/size/body.

Disease Ontology:10 A spinocerebellar degeneration that has material basis in expansion of cag triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

Genetics Home Reference:23 Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.

UniProtKB/Swiss-Prot:67 Dentatorubral-pallidoluysian atrophy: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.

Description from OMIM:49 125370

GeneReviews summary for drpla

Related Diseases for Dentatorubro-Pallidoluysian Atrophy

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Diseases related to Dentatorubro-Pallidoluysian Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1huntington disease29.9ATN1, ATXN1, ATXN3, HTT, JPH3, TBP
2cerebellar ataxia29.8ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
3machado-joseph disease10.8
4ataxia10.6
5muscular atrophy10.5
6neuronitis10.4
7cerebritis10.4
8microcephaly10.4
9spinocerebellar ataxia10.4
10myoclonus epilepsy10.4
11myoclonus10.4
12status epilepticus10.4
13cervical dystonia10.4
14central pontine myelinolysis10.4
15cervicitis10.4
16dystonia10.4
17paraplegia10.4
18progressive myoclonus epilepsy10.4
19cerebellar degeneration10.4
20spasticity10.4
21tremor10.4
22ramsay hunt syndrome10.4
23endotheliitis10.4
24unverricht-lundborg syndrome10.2
25neuropathy ataxia retinitis pigmentosa syndrome10.1ATXN1, ATXN3
26spinocerebellar ataxia 710.1ATXN2, ATXN7
27cerebellar hypoplasia10.1ATXN2, CACNA1A
28spinocerebellar ataxia 210.1ATXN2, ATXN3
29epilepsy, progressive myoclonic 1a10.0
30coccidioidomycosis10.0ATXN1, ATXN2, ATXN7
31choreoacanthocytosis10.0JPH3, TBP
32vascular erectile tumor10.0ATXN2, FGF14
33uv-induced skin damage9.9HTT, JPH3
34vasomotor rhinitis9.8ATXN1, HTT
35choriocarcinoma9.8ATXN3, HTT, JPH3, TBP
36ataxias and cerebellar or spinocerebellar degeneration9.7ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
37parkinson disease, late-onset9.7ATXN2, ATXN3, HTT, TBP
38neurilemmoma9.7ATXN2, ATXN3, CACNA1A, HTT
39mental retardation, autosomal recessive 329.7ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
40hypospadias 1, x-linked9.6ATN1, ATXN1, ATXN3, ATXN7, HTT
41spinocerebellar ataxia 19.6ATN1, ATXN1, ATXN3, CACNA1A, HTT
42central nervous system germ cell tumor9.6ATN1, ATXN2, ATXN3, CACNA1A, HTT
43cerebellar medulloblastoma9.6ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B
44spinocerebellar degeneration9.5ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B
45spinocerebellar ataxia 129.5ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
46hereditary hemorrhagic telangiectasia9.5ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
47spleen cancer9.5ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
48spinocerebellar ataxia 179.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
49dentatorubro-pallidoluysian atrophy8.2ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Graphical network of the top 20 diseases related to Dentatorubro-Pallidoluysian Atrophy:



Diseases related to dentatorubro-pallidoluysian atrophy

Symptoms for Dentatorubro-Pallidoluysian Atrophy

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Symptoms by clinical synopsis from OMIM:

125370

Clinical features from OMIM:

125370

HPO human phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

(show all 12)
id Description Frequency HPO Source Accession
1 atrophy of the dentate nucleus hallmark (90%) HP:0007047
2 fetal cystic hygroma hallmark (90%) HP:0010878
3 ataxia 25% HP:0001251
4 dementia 14% HP:0000726
5 seizures 12% HP:0001250
6 nystagmus 9% HP:0000639
7 chorea 7% HP:0002072
8 myoclonus 6% HP:0001336
9 abnormal pyramidal signs rare (5%) HP:0007256
10 autosomal dominant inheritance HP:0000006
11 choreoathetosis HP:0001266
12 genetic anticipation HP:0003743

Drugs & Therapeutics for Dentatorubro-Pallidoluysian Atrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dentatorubro-Pallidoluysian Atrophy


Cochrane evidence based reviews: Myoclonic Epilepsies, Progressive

Genetic Tests for Dentatorubro-Pallidoluysian Atrophy

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Genetic tests related to Dentatorubro-Pallidoluysian Atrophy:

id Genetic test Affiliating Genes
1 Drpla22 ATN1
2 Dentatorubral Pallidoluysian Atrophy24

Anatomical Context for Dentatorubro-Pallidoluysian Atrophy

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MalaCards organs/tissues related to Dentatorubro-Pallidoluysian Atrophy:

33
Brain

Animal Models for Dentatorubro-Pallidoluysian Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.2ATN1, ATXN1, ATXN2, ATXN7, BAIAP2, CACNA1A
2MP:00053786.2ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, FGF14
3MP:00053865.9ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2
4MP:00036315.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Publications for Dentatorubro-Pallidoluysian Atrophy

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Articles related to Dentatorubro-Pallidoluysian Atrophy:

idTitleAuthorsYear
1
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. (22872568)
2013
2
A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. (17236112)
2006
3
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). (11967648)
2002
4
Length polymorphism in a CAG-rich coding region of the canine dentatorubro-pallidoluysian atrophy (DRPLA) gene. (9720192)
1998
5
Loss of the dentate nucleus neurons is associated with torpedo formation: a morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy. (9498049)
1998
6
Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. (2109190)
1990

Variations for Dentatorubro-Pallidoluysian Atrophy

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Clinvar genetic disease variations for Dentatorubro-Pallidoluysian Atrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATN1NM_001940.3(ATN1)NT expansionPathogenicrs193922934GRCh37Chr 12, 7045880: 7045882
2ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045894
3ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045894

Expression for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Search GEO for disease gene expression data for Dentatorubro-Pallidoluysian Atrophy.

Pathways for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Pathways related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.4ATXN1, ATXN2, ATXN3, ATXN7, FGF14, HTT

GO Terms for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Cellular components related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:004240510.5ATXN1, ATXN3
2nuclear matrixGO:00163639.6ATN1, ATXN1, ATXN3, ATXN7
3nucleoplasmGO:00056547.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2
4cytoplasmGO:00057376.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Biological processes related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:004356910.1ATXN1, ATXN7
2cerebellar Purkinje cell differentiationGO:002170210.0ATXN2, CACNA1A
3negative regulation of phosphorylationGO:00423269.9ATXN1, ATXN7
4regulation of protein phosphatase type 2A activityGO:00340479.7HTT, PPP2R2B
5neuron apoptotic processGO:00514029.6ATN1, HTT
6neuromuscular processGO:00509059.5ATXN2, CACNA1A, FGF14
7hormone metabolic processGO:00424459.3CACNA1A, HTT
8dendrite morphogenesisGO:00488139.2CACNA1A, RERE
9regulation of synaptic plasticityGO:00481678.6BAIAP2, FGF14, HTT

Molecular functions related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.1ATXN1, ATXN2, BAIAP2
2identical protein bindingGO:00428028.2ATXN1, ATXN3, BAIAP2, HTT

Sources for Dentatorubro-Pallidoluysian Atrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet