NOD
MCID: DNT005
MIFTS: 57

Dentatorubral-Pallidoluysian Atrophy (NOD) malady

Neuronal category

Summaries for Dentatorubral-Pallidoluysian Atrophy

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 cerebellar degeneration. 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, cortex 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:64 Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration... more...

Description from OMIM:47 125370

GeneReviews summary for drpla

Aliases & Classifications for Dentatorubral-Pallidoluysian Atrophy

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
drpla:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

dentatorubral-pallidoluysian atrophy 8 19 43 22 21 10 61
drpla 8 19 43 20 21 45 49
naito-oyanagi disease 8 19 21 49
haw river syndrome 8 43 21
myoclonic epilepsy with choreoathetosis 43 21
dentatorubropallidoluysian atrophy 43 49
ataxia, chorea, seizures, and dementia 43
dentatorubral pallidoluysian atrophy 49
dentatorubro-pallidoluysian atrophy 47
nod 21


External Ids:

Disease Ontology8 DOID:0060162
MeSH35 D020191
OMIM47 125370
ICD10 via Orphanet26 G11
SNOMED-CT via Orphanet58 19091006
UMLS via Orphanet62 C0751781

Related Diseases for Dentatorubral-Pallidoluysian Atrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia30.8RPS27A, HTT, ATXN2, ATXN3, ATN1
2cerebellar degeneration30.5ATXN2
3huntington's disease30.4RPS27A, CALB2, HTT, ATXN3, ATN1
4neuronal intranuclear inclusion disease29.9RPS27A
5dentatorubral atrophy11.4
6machado-joseph disease10.7
7dent's disease10.7
8ataxia10.6
9myoclonus epilepsy10.6
10cerebral atrophy10.6
11myoclonus10.6
12spinocerebellar atrophy10.6
13muscular atrophy10.5
14spinal muscular atrophy10.5
15spinal-bulbar muscular atrophy10.5
16t-cell leukemia10.3
17status epilepticus10.3
18friedreich ataxia10.3
19monilethrix10.3
20central pontine myelinolysis10.3
21brain disease10.3
22cervical dystonia10.3
23myoclonus epilepsy partial seizure10.3
24nodal-related visceral heterotaxy10.3
25nodal-related holoprosencephaly10.3
26chorea10.3
27tremor10.3
28ramsay-hunt syndrome10.3
29thyroiditis10.3
30acute leukemia10.3
31autoimmune thyroiditis10.2
32sialadenitis10.2
33graft versus host disease10.1
34acute t cell leukemia10.1
35null-cell leukemia10.1
36insulinoma10.1
37chronic granulomatous disease10.0
38allergic asthma10.0
39kaposi's sarcoma10.0
40n syndrome10.0
41asthma10.0
42primary effusion lymphoma10.0
43rheumatic disease10.0
44spasmus nutans10.0
45neuropathy10.0C10orf2
46spinocerebellar ataxia type 710.0ATXN2
47axonal neuropathy10.0PLEKHG4
48parkinson's disease10.0PDYN, RPS27A
49toxic encephalopathy10.0SLC1A3, HTT
50olivopontocerebellar atrophy10.0ATXN3, ATXN2

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



Diseases related to dentatorubral-pallidoluysian atrophy

Clinical Features for Dentatorubral-Pallidoluysian Atrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

125370

Clinical synopsis from OMIM:

125370

Drugs & Therapeutics for Dentatorubral-Pallidoluysian Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dentatorubral-Pallidoluysian Atrophy:

33
Brain, Cortex, Cerebellum, Endothelial

Animal Models for Dentatorubral-Pallidoluysian Atrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

37
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

Sources:
51PubMed
See all sources

Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50)    (show all 132)
idTitleAuthorsYear
1
Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein. (23933208)
2013
2
Is cerebral white matter involvement helpful in the diagnosis of dentatorubral-pallidoluysian atrophy? (22286658)
2012
3
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. (22527233)
2012
4
Transarterial embolisation for refractory bilateral chronic subdural hematomas in a case with dentatorubral-pallidoluysian atrophy. (21125409)
2011
5
Dentatorubral-pallidoluysian atrophy (DRPLA). (20500452)
2010
6
Dentatorubral pallidoluysian atrophy presenting with urinary retention. (20669269)
2010
7
Dentatorubral pallidoluysian atrophy in South Wales. (17965145)
2008
8
Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy. (18616556)
2008
9
Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy. (16908559)
2006
10
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
11
Proton MR spectroscopy of adult-onset dentatorubral-pallidoluysian atrophy. (16462132)
2005
12
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. (14967857)
2004
13
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. (12925365)
2003
14
Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy. (12402270)
2002
15
Selective colocalization of transglutaminase-like activity in ubiquitinated intranuclear inclusions of hereditary dentatorubral-pallidoluysian atrophy. (12376195)
2002
16
Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. (11968450)
2002
17
Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. (11843701)
2002
18
Developmental changes in cerebrospinal fluid concentrations of monoamine-related substances in patients with dentatorubral-pallidoluysian atrophy. (11292229)
2001
19
Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. (11160976)
2001
20
Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis. (11140942)
2000
21
Dentatorubral-pallidoluysian atrophy (DRPLA). (11128606)
2000
22
Cerebellar degeneration in hereditary dentatorubral-pallidoluysian atrophy and Machado-Joseph disease. (10651027)
2000
23
Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neurons in dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches. (10867794)
2000
24
Molecular pathology of dentatorubral-pallidoluysian atrophy. (10434307)
1999
25
Unique characteristics of ubiquitin-bonded complex play a pathological role in dentatorubral-pallidoluysian atrophy. (10527837)
1999
26
Different complex formations of dentatorubral-pallidoluysian atrophy (DRPLA) protein in human and rat neurons. (9878517)
1998
27
Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. (9845282)
1998
28
Hereditary dentatorubral-pallidoluysian atrophy: ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons. (9600594)
1998
29
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
30
Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). (9352736)
1997
31
Regional and cellular expression of the dentatorubral-pallidoluysian atrophy gene in brains of normal and affected individuals. (9153521)
1997
32
Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia. (9109905)
1997
33
Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. (9409354)
1997
34
Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy. (9050922)
1997
35
Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis. (9361003)
1997
36
Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization. (8786114)
1996
37
Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. (8825056)
1996
38
Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. (8866494)
1996
39
The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing. (8929958)
1996
40
Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. (7847869)
1995
41
Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. (8586978)
1995
42
Differential diagnosis of early stage Huntington's disease from dentatorubral-pallidoluysian atrophy by DNA analysis. (24283646)
1995
43
MR of childhood-onset dentatorubral-pallidoluysian atrophy. (8693983)
1995
44
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. (7824105)
1995
45
Anticipation in hereditary dentatorubral-pallidoluysian atrophy. (8005597)
1994
46
Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). (7842016)
1994
47
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. (8136826)
1994
48
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). (8136840)
1994
49
Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. (3386824)
1988
50
Ramsay Hunt syndrome in dentatorubral-pallidoluysian atrophy. (3880416)
1985

Genetic Variations for Dentatorubral-Pallidoluysian Atrophy

Expression for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1it 154510.4ATN1, HTT
2cyanine4510.3CALB2, PVALB
3methamphetamine45 50 1112.2TPH1, PDYN, PVALB, RPS27A
4melittin4510.2PVALB, RPS27A
5quinolinic acid45 2411.2HTT, CALB2, PVALB
6melatonin45 60 29 11 2414.1CALB2, HTT, TPH1
7kainate45 2911.1PVALB, PDYN, HTT, SLC1A3
8levodopa45 1111.0RPS27A, PDYN, TPH1
9silver4510.0RPS27A, PVALB, CALB2
10polyacrylamide4510.0PVALB, ATXN2, ATXN3, TPH1
11nmda45 2911.0RPS27A, PVALB, PDYN, HTT, SLC1A3
12acetylcholine45 50 29 11 2413.9RPS27A, PVALB, CALB2, PDYN, TPH1
13gaba459.8RPS27A, PVALB, CALB2, PDYN, SLC1A3, TPH1
14dopamine45 29 11 2412.8RPS27A, PVALB, CALB2, PDYN, HTT, TPH1
15glycogen45 2410.7DVL1, BAIAP2L1, HTT, RPS27A
16cysteine459.7RPS27A, PDYN, HTT, ATXN3, ATN1, SLC1A3
17nitric oxide45 11 2411.7PVALB, CALB2, PDYN, HTT, SLC1A3, TPH1
18ethanol45 50 11 2412.7TPH1, PDYN, CALB2, PVALB
19glutamate459.6RPS27A, PVALB, CALB2, PDYN, HTT, SLC1A3
20atp45 2910.5RPS27A, PVALB, PDYN, HTT, BAIAP2L1, SLC1A3
21glutamine459.4SLC1A3, RPS27A, PDYN, HTT, ATXN2, ATXN3
22testosterone45 60 11 2412.3RPS27A, CALB2, HTT, ATXN3, ATN1
23tyrosine459.2RPS27A, PVALB, CALB2, PDYN, HTT, ATN1

GO Terms for genes affiliated with Dentatorubral-Pallidoluysian Atrophy

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet