NOD
MCID: DNT005
MIFTS: 61

Dentatorubral-Pallidoluysian Atrophy (NOD) malady

Neuronal diseases category

Summaries for Dentatorubral-Pallidoluysian Atrophy

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Dentatorubral-Pallidoluysian Atrophy, also known as drpla, is related to spinocerebellar ataxia and huntington's disease. An important gene associated with Dentatorubral-Pallidoluysian Atrophy is ATN1 (atrophin 1). The compounds it 15 and cyanine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cerebellum, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Disease Ontology:8 A spinocerebellar degeneration that has material basis in an expansion of a cag repeat 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:63 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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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 20GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

dentatorubral-pallidoluysian atrophy 8 19 42 22 21 10 60
drpla 8 19 42 20 21 44 48
naito-oyanagi disease 8 19 21 48
haw river syndrome 8 42 21
myoclonic epilepsy with choreoathetosis 42 21
dentatorubropallidoluysian atrophy 42 48
ataxia, chorea, seizures, and dementia 42
dentatorubral pallidoluysian atrophy 48
dentatorubro-pallidoluysian atrophy 46
nod 21


External Ids:

Disease Ontology8 DOID:0060162
MeSH34 D020191
OMIM46 125370
ICD10 via Orphanet26 G11
SNOMED-CT via Orphanet57 19091006, 68116008
UMLS via Orphanet61 C0751781

Related Diseases for Dentatorubral-Pallidoluysian Atrophy

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17GeneCards, 18GeneDecks
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Diseases related to Dentatorubral-Pallidoluysian Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia30.8RPS27A, HTT, ATXN2, ATXN3, ATN1
2huntington's disease30.6RPS27A, CALB2, HTT, ATXN3, ATN1
3spinocerebellar ataxia type 1230.5ATXN2, ATXN3, ATN1
4spinocerebellar ataxia type 1730.5ATN1, ATXN3, ATXN2
5spinocerebellar ataxia type 330.4RPS27A, HTT, ATXN2, ATXN3, ATN1
6cerebellar ataxia30.4C10orf2, PDYN, ATXN2, ATXN3, AFG3L2, PLEKHG4
7neuropathy30.0C10orf2
8epilepsy syndrome29.7PVALB, CALB2, PDYN, ATXN2, TPH1
9neuronitis10.8
10machado-joseph disease10.7
11cerebritis10.5
12obesity10.5
13muscular atrophy10.5
14spinal muscular atrophy10.5
15pancreatitis10.4
16leukemia10.4
17spinocerebellar ataxia type 810.3
18status epilepticus10.3
19monilethrix10.3
20central pontine myelinolysis10.3
21brain disease10.3
22cerebellar disease10.3
23cervicitis10.3
24corneal degeneration10.3
25paraplegia10.3
26progressive myoclonus epilepsy10.3
27x-linked disease10.3
28spinocerebellar ataxia type 610.3
29nodal-related visceral heterotaxy10.3
30nodal-related holoprosencephaly10.3
31t-cell leukemia10.3
32thyroiditis10.3
33acute leukemia10.2
34autoimmune thyroiditis10.1
35sialadenitis10.1
36graft versus host disease10.1
37acute t cell leukemia10.1
38insulinoma10.1
39dacryoadenitis10.1
40myeloma10.1
41severe combined immunodeficiency10.1
42crohn's disease10.0
43chronic granulomatous disease10.0
44adult t-cell leukemia10.0
45allergic asthma10.0
46kaposi's sarcoma10.0
47asthma10.0
48diabetes mellitus10.0
49diabetic neuropathy10.0
50lymphoblastic leukemia10.0

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



Diseases related to dentatorubral-pallidoluysian atrophy

Clinical Features for Dentatorubral-Pallidoluysian Atrophy

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46OMIM
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Clinical features from OMIM:

125370

Clinical synopsis from OMIM:

125370

Drugs & Therapeutics for Dentatorubral-Pallidoluysian Atrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Dentatorubral-Pallidoluysian Atrophy

Drug clinical trials:

Search ClinicalTrials for Dentatorubral-Pallidoluysian Atrophy

Search NIH Clinical Center for Dentatorubral-Pallidoluysian Atrophy

Search CenterWatch for Dentatorubral-Pallidoluysian Atrophy

Genetic Tests for Dentatorubral-Pallidoluysian Atrophy

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Dentatorubral-Pallidoluysian Atrophy:

32
Brain, Testes, Cerebellum, Endothelial, Cortex

Animal Models for Dentatorubral-Pallidoluysian Atrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.5SLC1A3, MAGI2, ATN1, ATXN3, HTT, PVALB
2MP:00053868.1TPH1, PVALB, CALB2, PDYN, HTT, ATXN2
3MP:00036317.9ATXN3, ATXN2, HTT, PDYN, CALB2, PVALB

Publications for Dentatorubral-Pallidoluysian Atrophy

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50PubMed
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Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Dentatorubral-pallidoluysian atrophy. (21827919)
2012
2
Neurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophy. (22362920)
2012
3
Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families. (22083836)
2012
4
Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy. (20966051)
2011
5
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. (20589872)
2010
6
Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy. (20977674)
2010
7
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. (19514013)
2009
8
Dentatorubral pallidoluysian atrophy in a Turkish family. (20196398)
2009
9
Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy. (19469833)
2009
10
Oxidative stress in neurodegeneration in dentatorubral-pallidoluysian atrophy. (17949751)
2008
11
Renal complications in two patients with dentatorubral-pallidoluysian atrophy. (17269599)
2007
12
Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy. (16908559)
2006
13
Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. (16891319)
2006
14
Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion. (17078058)
2006
15
White matter T2 hyperintensity development and clinical deterioration after status epilepticus in a patient with dentatorubral-pallidoluysian atrophy. (16720221)
2006
16
Proton MR spectroscopy of adult-onset dentatorubral-pallidoluysian atrophy. (16462132)
2005
17
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. (14967857)
2004
18
Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions. (15133824)
2004
19
Cervical dystonia in dentatorubral-pallidoluysian atrophy. (12956864)
2003
20
Pallidotomy for severe generalized chorea of juvenile-onset dentatorubral-pallidoluysian atrophy. (14638982)
2003
21
Glyceraldehyde 3-phosphate dehydrogenase and endothelin-1 immunoreactivity is associated with cerebral white matter damage in dentatorubral-pallidoluysian atrophy. (12722924)
2003
22
A pediatric patient with sporadic dentatorubral pallidoluysian atrophy. (12657426)
2003
23
Head tremor in dentatorubral-pallidoluysian atrophy. (12371928)
2002
24
Juvenile dentatorubral-pallidoluysian atrophy: new clinical features. (11814736)
2002
25
Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. (11198291)
2001
26
Dentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosis. (11449034)
2001
27
Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis. (11140942)
2000
28
The first identified French family with dentatorubral-pallidoluysian atrophy. (11009212)
2000
29
Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue. (11042112)
2000
30
Afferent and efferent excitabilities of the transcortical loop in patients with dentatorubral-pallidoluysian atrophy. (10865089)
2000
31
Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate. (10332026)
1999
32
Abnormal dentatorubral-pallidoluysian atrophy (DRPLA) protein complex is pathologically ubiquitinated in DRPLA brains. (10381356)
1999
33
Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. (9949204)
1999
34
Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission. (9443494)
1998
35
Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). (9352736)
1997
36
Regional and cellular expression of the dentatorubral-pallidoluysian atrophy gene in brains of normal and affected individuals. (9153521)
1997
37
Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients. (9143016)
1997
38
Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene. (9070948)
1997
39
Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. (9124808)
1997
40
Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells. (8757047)
1996
41
Characteristic evoked potentials in childhood-onset dentatorubral-pallidoluysian atrophy. (8891234)
1996
42
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. (8651298)
1996
43
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. (8644735)
1996
44
Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping. (8557270)
1996
45
Proton magnetic resonance spectroscopy on childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA). (8733908)
1996
46
Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. (7620120)
1995
47
Molecular cloning of a full-length cDNA for dentatorubral- pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. (7485154)
1995
48
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? (7477999)
1995
49
Anticipation in hereditary dentatorubral-pallidoluysian atrophy. (8005597)
1994
50
Ramsay Hunt syndrome in dentatorubral-pallidoluysian atrophy. (3880416)
1985

Genetic Variations for Dentatorubral-Pallidoluysian Atrophy

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Expression for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1it 154410.4ATN1, HTT
2cyanine4410.3CALB2, PVALB
3methamphetamine44 49 1112.2TPH1, PDYN, PVALB, RPS27A
4melittin4410.2PVALB, RPS27A
5quinolinic acid44 2411.2HTT, CALB2, PVALB
6melatonin44 59 28 11 2414.1CALB2, HTT, TPH1
7kainate44 2811.1PVALB, PDYN, HTT, SLC1A3
8levodopa44 1111.0RPS27A, PDYN, TPH1
9silver4410.0RPS27A, PVALB, CALB2
10polyacrylamide4410.0PVALB, ATXN2, ATXN3, TPH1
11nmda44 2811.0RPS27A, PVALB, PDYN, HTT, SLC1A3
12acetylcholine44 49 28 11 2413.9RPS27A, PVALB, CALB2, PDYN, TPH1
13gaba449.8RPS27A, PVALB, CALB2, PDYN, SLC1A3, TPH1
14dopamine44 28 11 2412.8RPS27A, PVALB, CALB2, PDYN, HTT, TPH1
15glycogen44 2410.7DVL1, BAIAP2L1, HTT, RPS27A
16cysteine449.7RPS27A, PDYN, HTT, ATXN3, ATN1, SLC1A3
17nitric oxide44 11 2411.7PVALB, CALB2, PDYN, HTT, SLC1A3, TPH1
18ethanol44 49 11 2412.7TPH1, PDYN, CALB2, PVALB
19glutamate449.6RPS27A, PVALB, CALB2, PDYN, HTT, SLC1A3
20atp44 2810.5RPS27A, PVALB, PDYN, HTT, BAIAP2L1, SLC1A3
21glutamine449.4SLC1A3, RPS27A, PDYN, HTT, ATXN2, ATXN3
22testosterone44 59 11 2412.3RPS27A, CALB2, HTT, ATXN3, ATN1
23tyrosine449.2RPS27A, PVALB, CALB2, PDYN, HTT, ATN1

GO Terms for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

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16Gene Ontology
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Cellular components related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:0304259.5TMEM185A, DVL1, MAGI2, HTT
2cytoplasmGO:0057378.7CALB2, HTT, ATXN2, ATXN3, ATN1, BAIAP2

Biological processes related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1L-glutamate importGO:05193810.2SLC1A3, HTT
2receptor clusteringGO:04311310.1MAGI2, DVL1
3filopodium assemblyGO:04684710.1BAIAP2L1, BAIAP2
4response to bacteriumGO:00961710.0BAIAP2L1, BAIAP2
5Notch receptor processingGO:0072209.9DLL1, RPS27A
6cell deathGO:0082199.7SPTBN2, AFG3L2, ATXN3, ATXN2, PDYN, C10orf2

Molecular functions related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proline-rich region bindingGO:07006410.1BAIAP2L1, BAIAP2
2cytoskeletal adaptor activityGO:0080939.8BAIAP2L1, BAIAP2

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet