DRPLA
MCID: DNT016
MIFTS: 47

Dentatorubro-Pallidoluysian Atrophy (DRPLA) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Dentatorubro-Pallidoluysian Atrophy

Aliases & Descriptions for Dentatorubro-Pallidoluysian Atrophy:

Name: Dentatorubro-Pallidoluysian Atrophy 54 13
Dentatorubral-Pallidoluysian Atrophy 54 12 23 50 24 25 66 14 69
Drpla 12 23 50 24 25 56 66 52
Naito-Oyanagi Disease 12 24 25 56
Haw River Syndrome 12 50 25
Myoclonic Epilepsy with Choreoathetosis 50 25
Dentatorubral Pallidoluysian Atrophy 56 29
Dentatorubropallidoluysian Atrophy 50 56
Nod 50 25
Ataxia, Chorea, Seizures, and Dementia 50
Myoclonic Epilepsies, Progressive 42
Naito Oyanagi Disease 50

Characteristics:

Orphanet epidemiological data:

56
dentatorubral pallidoluysian atrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages;

GeneReviews:

23
dentatorubro-pallidoluysian atrophy:
Inheritance autosomal dominant inheritance genetic anticipation


GeneReviews:

23
Penetrance Expanded alleles are fully penetrant except for one individual with a mildly expanded number of cag repeats (51 repeats) who was asmptomatic at age 81 years [hattori et al 1999]...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 125370
Disease Ontology 12 DOID:0060162
MeSH 42 D020191
Orphanet 56 ORPHA101
UMLS via Orphanet 70 C0751781
ICD10 via Orphanet 34 G11.8

Summaries for Dentatorubro-Pallidoluysian Atrophy

NIH Rare Diseases : 50 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 progressive myoclonus epilepsy and unverricht-lundborg syndrome, and has symptoms including ataxia, seizures and myoclonus. An important gene associated with Dentatorubro-Pallidoluysian Atrophy is ATN1 (Atrophin 1), and among its related pathways/superpathways are Akt Signaling and Chks in Checkpoint Regulation. The drugs Dopamine and Ropinirole have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that has material basis in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

Genetics Home Reference : 25 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 : 66 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: 125370
GeneReviews: NBK1491

Related Diseases for Dentatorubro-Pallidoluysian Atrophy

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

(show all 34)
id Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy 11.2
2 unverricht-lundborg syndrome 11.1
3 progressive myoclonus epilepsy, lafora type 11.1
4 epilepsy, progressive myoclonic 1a 10.8
5 ataxia 10.3
6 microcephaly 10.1
7 epilepsy 10.1
8 cerebritis 10.1
9 neuronitis 10.1
10 myoclonus epilepsy 10.1
11 myoclonus 10.1
12 sjogren's syndrome 10.0 JPH3 TBP
13 cystic echinococcosis 10.0 ATXN2 ATXN7
14 spastic paraplegia 50, autosomal recessive 10.0 ATXN3 ATXN7 CACNA1A
15 hypogonadotropic hypogonadism 3 with or without anosmia 10.0 ATXN2 PPP2R2B
16 hypocalcemia, autosomal dominant 2 10.0 ATXN3 ATXN7 CACNA1A
17 lissencephaly 6, with microcephaly 9.9 ATXN3 ATXN7 CACNA1A
18 osteopathia striata with cranial sclerosis 9.9 ATXN1 ATXN3 ATXN7
19 adams-oliver syndrome 4 9.9 ATXN2 ATXN7
20 cyprus facial neuromusculoskeletal syndrome 9.9 ATXN1 ATXN3
21 hemochromatosis, type 2a 9.9 ATXN2 ATXN3 TBP
22 whiplash 9.9 ATXN1 ATXN2 ATXN3
23 spinocerebellar ataxia, autosomal recessive 3 9.7 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
24 mucopolysaccharidosis is 9.7 ATN1 ATXN1 ATXN3 JPH3 TBP
25 charcot-marie-tooth disease, axonal, type 2l 9.6 ATXN2 ATXN3 ATXN7 CACNA1A TBP
26 acute interstitial pneumonia 9.6 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
27 ciliary dyskinesia, primary, 18 9.6 ATN1 ATXN3 ATXN7 CACNA1A JPH3 TBP
28 proteus syndrome, somatic 9.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
29 hermansky-pudlak syndrome 3 9.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
30 cephalic disorders 9.3 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
31 osteoporosis 9.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
32 holoprosencephaly 9.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
33 dipetalonemiasis 9.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
34 epileptic encephalopathy, early infantile, 21 8.7 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2

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



Diseases related to Dentatorubro-Pallidoluysian Atrophy

Symptoms & Phenotypes for Dentatorubro-Pallidoluysian Atrophy

Symptoms by clinical synopsis from OMIM:

125370

Clinical features from OMIM:

125370

Human phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 myoclonus 32 HP:0001336
4 abnormal pyramidal signs 32 HP:0007256
5 nystagmus 32 HP:0000639
6 chorea 32 HP:0002072
7 dementia 32 HP:0000726
8 choreoathetosis 32 HP:0001266
9 atrophy of the dentate nucleus 32 HP:0007047
10 fetal cystic hygroma 32 HP:0010878

UMLS symptoms related to Dentatorubro-Pallidoluysian Atrophy:


cerebellar ataxia, myoclonus, seizures

MGI Mouse Phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATXN7 BAIAP2 CACNA1A JPH3 TBP ATN1
2 growth/size/body region MP:0005378 9.8 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A JPH3
3 homeostasis/metabolism MP:0005376 9.76 ATN1 ATXN1 ATXN2 ATXN3 BAIAP2 CACNA1A
4 mortality/aging MP:0010768 9.56 TBP ATN1 ATXN1 ATXN2 ATXN7 BAIAP2
5 nervous system MP:0003631 9.28 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2

Drugs & Therapeutics for Dentatorubro-Pallidoluysian Atrophy

Drugs for Dentatorubro-Pallidoluysian Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
3
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
4 Antiparkinson Agents Phase 2
5 Dopamine Agents Phase 2
6 Dopamine agonists Phase 2
7 Neurotransmitter Agents Phase 2
8 HIV Protease Inhibitors
9 Neuroserpin
10
protease inhibitors
11 Serine Proteinase Inhibitors
12 insulin
13 Insulin, Globin Zinc
14 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3
2 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3
3 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
4 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
5 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
6 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
7 Ketogenic Diet in Lafora Disease Completed NCT00007124
8 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Dentatorubro-Pallidoluysian Atrophy

Cochrane evidence based reviews: myoclonic epilepsies, progressive

Genetic Tests for Dentatorubro-Pallidoluysian Atrophy

Genetic tests related to Dentatorubro-Pallidoluysian Atrophy:

id Genetic test Affiliating Genes
1 Dentatorubral Pallidoluysian Atrophy 29
2 Drpla 24 ATN1

Anatomical Context for Dentatorubro-Pallidoluysian Atrophy

MalaCards organs/tissues related to Dentatorubro-Pallidoluysian Atrophy:

39
Brain

Publications for Dentatorubro-Pallidoluysian Atrophy

Articles related to Dentatorubro-Pallidoluysian Atrophy:

id Title Authors Year
1
Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil. ( 28432641 )
2017
2
[Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy]. ( 27577205 )
2016
3
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. ( 22872568 )
2013
4
A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. ( 17236112 )
2006
5
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). ( 11967648 )
2002
6
Loss of the dentate nucleus neurons is associated with torpedo formation: a morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy. ( 9498049 )
1998
7
Length polymorphism in a CAG-rich coding region of the canine dentatorubro-pallidoluysian atrophy (DRPLA) gene. ( 9720192 )
1998
8
Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. ( 2109190 )
1990

Variations for Dentatorubro-Pallidoluysian Atrophy

ClinVar genetic disease variations for Dentatorubro-Pallidoluysian Atrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATN1 NM_001940.3(ATN1) NT expansion Pathogenic rs193922934 GRCh37 Chromosome 12, 7045880: 7045882
2 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh37 Chromosome 12, 7045892: 7045894
3 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh37 Chromosome 12, 7045892: 7045894

Expression for Dentatorubro-Pallidoluysian Atrophy

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

Pathways for Dentatorubro-Pallidoluysian Atrophy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 ATXN1 ATXN2 ATXN3 ATXN7 PPP2R2B
2
Show member pathways
11.53 ATXN1 ATXN2 ATXN3 ATXN7

GO Terms for Dentatorubro-Pallidoluysian Atrophy

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.81 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2
2 presynapse GO:0098793 9.26 BAIAP2 CACNA1A
3 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
4 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

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

id Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 8.96 ATXN3 ATXN7
2 neuromuscular process controlling balance GO:0050885 8.62 CACNA1A JPH3

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

id Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 8.8 ATXN1 ATXN2 BAIAP2

Sources for Dentatorubro-Pallidoluysian Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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