NOD
MCID: DNT005
MIFTS: 50

Dentatorubral-Pallidoluysian Atrophy (NOD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Dentatorubral-Pallidoluysian Atrophy

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NIH Rare Diseases:42 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: Dentatorubral-Pallidoluysian Atrophy, also known as drpla, is related to machado-joseph disease and huntington's disease, and has symptoms including An important gene associated with Dentatorubral-Pallidoluysian Atrophy is ATN1 (atrophin 1), and among its related pathways is beta-catenin independent WNT signaling. The compounds methamphetamine and levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum.

Disease Ontology:8 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.

Wikipedia:65 Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration... more...

Description from OMIM:46 125370

GeneReviews summary for drpla

Aliases & Classifications for Dentatorubral-Pallidoluysian Atrophy

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 62UMLS, 48Orphanet, 20GeneTests, 44Novoseek, 46OMIM, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Dentatorubral-Pallidoluysian Atrophy, Aliases & Descriptions:

Name: Dentatorubral-Pallidoluysian Atrophy 8 19 42 22 21 10 62
Drpla 8 19 42 20 21 44 48
Naito-Oyanagi Disease 8 19 21 48 62
Myoclonic Epilepsy with Choreoathetosis 42 21 62
Haw River Syndrome 8 42 21
Dentatorubropallidoluysian Atrophy 42 48
 
Nod 42 21
Ataxia, Chorea, Seizures, and Dementia 42
Dentatorubral Pallidoluysian Atrophy 48
Dentatorubro-Pallidoluysian Atrophy 46
Naito Oyanagi Disease 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
drpla:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:0060162
OMIM46 125370
MeSH34 D020191
ICD10 via Orphanet26 G11
UMLS via Orphanet63 C0751781

Related Diseases for Dentatorubral-Pallidoluysian Atrophy

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



Diseases related to dentatorubral-pallidoluysian atrophy

Symptoms for Dentatorubral-Pallidoluysian Atrophy

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Symptoms by clinical synopsis from OMIM:

125370

Clinical features from OMIM:

125370

HPO human phenotypes related to Dentatorubral-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 Dentatorubral-Pallidoluysian Atrophy

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Drug clinical trials:

Search ClinicalTrials for Dentatorubral-Pallidoluysian Atrophy

Search NIH Clinical Center for Dentatorubral-Pallidoluysian Atrophy

Genetic Tests for Dentatorubral-Pallidoluysian Atrophy

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Genetic tests related to Dentatorubral-Pallidoluysian Atrophy:

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

Anatomical Context for Dentatorubral-Pallidoluysian Atrophy

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MalaCards organs/tissues related to Dentatorubral-Pallidoluysian Atrophy:

32
Brain, Cortex, Cerebellum, Testes, Endothelial

Animal Models for Dentatorubral-Pallidoluysian Atrophy or affiliated genes

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Publications for Dentatorubral-Pallidoluysian Atrophy

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Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. (23263592)
2013
2
Dentatorubral pallidoluysian atrophy. (21496575)
2011
3
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. (20589872)
2010
4
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. (19514013)
2009
5
A case of late adult-onset dentatorubral-pallidoluysian atrophy mimicking central pontine myelinolysis. (19390768)
2009
6
Dentatorubral pallidoluysian atrophy in South Wales. (17965145)
2008
7
Oxidative stress in neurodegeneration in dentatorubral-pallidoluysian atrophy. (17949751)
2008
8
Neuropathological analysis of the brainstem and cerebral cortex lesions on epileptogenesis in hereditary dentatorubral-pallidoluysian atrophy. (17307319)
2007
9
Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy. (16908559)
2006
10
Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. (16891319)
2006
11
Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent. (15948186)
2005
12
Proton MR spectroscopy of adult-onset dentatorubral-pallidoluysian atrophy. (16462132)
2005
13
Phenotype variability in a caucasian family with dentatorubral-pallidoluysian atrophy. (15528920)
2004
14
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. (14967857)
2004
15
Cervical dystonia in dentatorubral-pallidoluysian atrophy. (12956864)
2003
16
Pallidotomy for severe generalized chorea of juvenile-onset dentatorubral-pallidoluysian atrophy. (14638982)
2003
17
Head tremor in dentatorubral-pallidoluysian atrophy. (12371928)
2002
18
Juvenile dentatorubral-pallidoluysian atrophy: new clinical features. (11814736)
2002
19
Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy. (12402270)
2002
20
Developmental changes in cerebrospinal fluid concentrations of monoamine-related substances in patients with dentatorubral-pallidoluysian atrophy. (11292229)
2001
21
Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. (11160976)
2001
22
An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy. (10872107)
2000
23
Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis. (11140942)
2000
24
Dentatorubral-pallidoluysian atrophy (DRPLA). (11128606)
2000
25
The first identified French family with dentatorubral-pallidoluysian atrophy. (11009212)
2000
26
Molecular pathology of dentatorubral-pallidoluysian atrophy. (10434307)
1999
27
Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. (10323319)
1999
28
Different complex formations of dentatorubral-pallidoluysian atrophy (DRPLA) protein in human and rat neurons. (9878517)
1998
29
Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. (9845282)
1998
30
Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy. (9858102)
1998
31
Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission. (9443494)
1998
32
The brainstem and thalamic lesions in dentatorubral-pallidoluysian atrophy: an MRI study. (9633753)
1998
33
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
34
Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). (9352736)
1997
35
Regional and cellular expression of the dentatorubral-pallidoluysian atrophy gene in brains of normal and affected individuals. (9153521)
1997
36
Huntington's disease and dentatorubral-pallidoluysian atrophy: proteins, pathogenesis and pathology. (9217980)
1997
37
Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients. (9143016)
1997
38
Two different pathological conditions of photoparoxysmal responses in hereditary dentatorubral-pallidoluysian atrophy. (9187480)
1997
39
Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells. (8757047)
1996
40
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
41
Characterization of dentatorubral-pallidoluysian atrophy proteins using two-dimensional electrophoretic analysis. (8891279)
1996
42
A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy. (8780110)
1996
43
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. (7647802)
1995
44
Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. (7778850)
1995
45
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). (7633415)
1995
46
Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA. (7614090)
1995
47
Anticipation in hereditary dentatorubral-pallidoluysian atrophy. (8005597)
1994
48
Dentatorubral-pallidoluysian atrophy and Haw River syndrome. (7996992)
1994
49
Ramsay Hunt syndrome in dentatorubral-pallidoluysian atrophy. (3880416)
1985
50
Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. (6808417)
1982

Variations for Dentatorubral-Pallidoluysian Atrophy

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Clinvar genetic disease variations for Dentatorubral-Pallidoluysian Atrophy:

6
id Gene Name Type Significance SNP ID Assembly Location
1ATN1NM_001940.3(ATN1)NT expansionPathogenicrs193922934

Expression for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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Expression patterns in normal tissues for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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

Pathways for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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Pathways related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5RPS27A, DVL1

Compounds for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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Compounds related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methamphetamine44 50 1111.4RPS27A, TPH1
2levodopa44 1110.3RPS27A, TPH1
3valine449.3RPS27A, TPH1
4mg 13244 6110.2TPH1, RPS27A
5h2o2448.9RPS27A, TPH1, DVL1
6cysteine448.6RPS27A, TPH1, ATN1

GO Terms for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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Products for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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Sources for Dentatorubral-Pallidoluysian Atrophy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet