MCID: DNT016
MIFTS: 36

Dentatorubro-Pallidoluysian Atrophy malady

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

Summaries for Dentatorubro-Pallidoluysian Atrophy

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NIH Rare Diseases:41 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 machado-joseph disease and spinocerebellar 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). The compounds cysteine and glyceraldehyde 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype no phenotypic analysis.

Disease Ontology:9 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:21 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.

Description from OMIM:45 125370

GeneReviews summary for drpla

Aliases & Classifications for Dentatorubro-Pallidoluysian Atrophy

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 60UMLS, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Dentatorubro-Pallidoluysian Atrophy, Aliases & Descriptions:

Name: Dentatorubro-Pallidoluysian Atrophy 45 10
Dentatorubral-Pallidoluysian Atrophy 45 9 19 41 21 11 60
Drpla 9 19 41 20 21 43 47
Naito-Oyanagi Disease 9 19 41 21 47
Myoclonic Epilepsy with Choreoathetosis 41 21 60
Dentatorubral Pallidoluysian Atrophy 41 47 22
 
Haw River Syndrome 9 41 21
Dentatorubropallidoluysian Atrophy 41 47
Nod 41 21
Ataxia, Chorea, Seizures, and Dementia 41
Naito Oyanagi Disease 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

47
drpla:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages


External Ids:

OMIM45 125370
Disease Ontology9 DOID:0060162
MeSH33 D020191
Orphanet47 101
ICD10 via Orphanet26 G11
UMLS via Orphanet61 C0751781

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 27)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease31.0ATN1, TBP
2spinocerebellar ataxia30.4ATN1, TBP
3huntington disease30.3TBP, ATN1
4neuronitis10.8
5microcephaly10.4
6cerebritis10.4
7myoclonus epilepsy10.4
8ataxia10.4
9myoclonus10.4
10status epilepticus10.4
11cervical dystonia10.4
12central pontine myelinolysis10.4
13muscular atrophy10.4
14cervicitis10.4
15dystonia10.4
16paraplegia10.4
17progressive myoclonus epilepsy10.4
18cerebellar degeneration10.4
19spasticity10.4
20tremor10.4
21endotheliitis10.4
22epilepsy, progressive myoclonic 1a10.0
23dementia10.0TBP
24hereditary ataxia10.0TBP, ATN1
25spinocerebellar ataxia 129.9TBP, ATN1
26spinocerebellar ataxia 179.9TBP, ATN1
27schizophrenia9.9TBP, ATN1

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 abnormality of pyramidal motor function 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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Drug clinical trials:

Search ClinicalTrials for Dentatorubro-Pallidoluysian Atrophy

Search NIH Clinical Center for Dentatorubro-Pallidoluysian Atrophy

Genetic Tests for Dentatorubro-Pallidoluysian Atrophy

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Genetic tests related to Dentatorubro-Pallidoluysian Atrophy:

id Genetic test Affiliating Genes
1 Drpla20 ATN1
2 Dentatorubral Pallidoluysian Atrophy22

Anatomical Context for Dentatorubro-Pallidoluysian Atrophy

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MalaCards organs/tissues related to Dentatorubro-Pallidoluysian Atrophy:

31
Brain

Animal Models for Dentatorubro-Pallidoluysian Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1TBP, ATN1

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
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ATN1NM_001940.3(ATN1)NT expansionPathogenicrs193922934
2ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045936
3ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045936

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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Compounds for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Sources:
43Novoseek
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Compounds related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cysteine439.1TBP, ATN1
2glyceraldehyde 3-phosphate439.0TBP, ATN1
3glutamine438.8TBP, ATN1

GO Terms for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Products for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Sources for Dentatorubro-Pallidoluysian Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet