DRPLA
MCID: DNT005
MIFTS: 57

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

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

Aliases & Classifications for Dentatorubral-Pallidoluysian Atrophy

MalaCards integrated aliases for Dentatorubral-Pallidoluysian Atrophy:

Name: Dentatorubral-Pallidoluysian Atrophy 56 12 74 24 52 25 73 15 71
Drpla 56 12 24 52 25 58 73 54
Naito-Oyanagi Disease 56 12 25 58
Haw River Syndrome 56 12 52 25
Myoclonic Epilepsy with Choreoathetosis 56 52 25
Dentatorubral Pallidoluysian Atrophy 58 29 6
Dentatorubropallidoluysian Atrophy 52 58 36
Nod 56 52 25
Ataxia, Chorea, Seizures, and Dementia 56 52
Atrophy, Pallidoluysian, Dentatorubral 39
Dentatorubro-Pallidoluysian Atrophy 13
Myoclonic Epilepsies, Progressive 43
Naito-Oyanagi Disease; Nod 56
Haw River Syndrome; Hrs 56
Naito Oyanagi Disease 52
Hrs 56

Characteristics:

Orphanet epidemiological data:

58
dentatorubral pallidoluysian atrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages;

OMIM:

56
Miscellaneous:
genetic anticipation
mean age of onset 30 years (range first to seventh decade)
phenotypic heterogeneity

Inheritance:
autosomal dominant


HPO:

31
dentatorubral-pallidoluysian atrophy:
Inheritance autosomal dominant inheritance genetic anticipation


GeneReviews:

24
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: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060162
OMIM 56 125370
KEGG 36 H00060
MeSH 43 D020191
SNOMED-CT 67 68116008 89480000
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C0751781
Orphanet 58 ORPHA101
UMLS 71 C0751776 C0751777 C0751778 more

Summaries for Dentatorubral-Pallidoluysian Atrophy

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. The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).

MalaCards based summary : Dentatorubral-Pallidoluysian Atrophy, also known as drpla, is related to supranuclear palsy, progressive, 1 and status epilepticus, and has symptoms including seizures, myoclonus and cerebellar ataxia. An important gene associated with Dentatorubral-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, heart and t cells, and related phenotypes are progressive cerebellar ataxia and atrophy of the dentate nucleus

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.

NIH Rare Diseases : 52 Dentatorubral-pallidoluysian atrophy (DRPLA) is a brain disorder that worsens over time. It can lead to involuntary movements, mental and emotional problems, and a decline in thinking ability. Symptoms usually appear around 30 years of age, but can occur anytime from infancy to mid-adulthood. Specific signs and symptoms may differ and include seizures , issues with balance and coordination (ataxia ), and involuntary muscle jerking or twitching (myoclonus). Other symptoms that usually appear in adulthood include dementia and psychiatric conditions. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure for DRPLA, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

KEGG : 36 Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally < 20 years) and cerebellar ataxia, choreoathetosis, and dementia in patients with a later onset (> 40 years).

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration... more...

More information from OMIM: 125370
GeneReviews: NBK1491

Related Diseases for Dentatorubral-Pallidoluysian Atrophy

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

(show top 50) (show all 564)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 31.0 PVALB HTT ATXN2
2 status epilepticus 30.9 PVALB CASP3 CACNA1A
3 choreatic disease 30.9 TBP JPH3 HTT ATXN7 ATXN3
4 friedreich ataxia 30.6 CACNA1A ATXN3 ATXN2 ATXN1
5 machado-joseph disease 30.5 TBP HTT CACNA1A ATXN7 ATXN3 ATXN2
6 spinocerebellar ataxia 1 30.3 PVALB HTT CACNA1A ATXN7 ATXN3 ATXN2
7 movement disease 30.2 HTT CACNA1A ATXN3
8 huntington disease 30.2 TBP JPH3 HTT GAPDH CASP3 ATXN7
9 spinocerebellar ataxia 2 30.2 HTT CACNA1A ATXN7 ATXN3 ATXN2
10 spinocerebellar ataxia 8 30.1 PPP2R2B JPH3 HTT ATXN7 ATXN3 ATXN2
11 spinocerebellar ataxia 7 29.9 ATXN7 ATXN3 ATXN2 ATXN1
12 dystonia 29.8 TBP PVALB JPH3 HTT CACNA1A ATXN7
13 dementia 29.8 TBP JPH3 HTT ATXN3 ATXN2 ATXN1
14 amyotrophic lateral sclerosis 1 29.6 SLC1A3 PVALB HTT GAPDH CASP3 ATXN7
15 spinocerebellar ataxia 12 29.6 TBP PPP2R2B CACNA1A ATXN7 ATXN3 ATXN2
16 aceruloplasminemia 29.5 TBP SLC1A3 PPP2R2B JPH3 HTT FGF14
17 autosomal dominant cerebellar ataxia 29.2 TBP PPP2R2B LOC109461484 JPH3 HTT FGF14
18 hereditary ataxia 29.1 TBP SLC1A3 PPP2R2B FGF14 CACNA1A ATXN7
19 spinocerebellar ataxia 17 28.7 TBP PPP2R2B JPH3 FGF14 CACNA1A ATXN7
20 lymphoma, hodgkin, classic 11.8
21 marie unna congenital hypotrichosis 11.7
22 hepatorenal syndrome 11.6
23 progressive myoclonus epilepsy, lafora type 11.5
24 atrichia with papular lesions 11.5
25 hypotrichosis 4 11.5
26 alopecia universalis congenita 11.5
27 rh-null, amorph type 11.3
28 ataxia and polyneuropathy, adult-onset 11.2
29 myoclonus 11.2
30 bloom syndrome 11.2
31 aspiration pneumonitis 11.2
32 oropharynx cancer 11.2
33 myoclonus epilepsy 11.1
34 progressive myoclonus epilepsy 11.0
35 early myoclonic encephalopathy 10.8
36 spinocerebellar degeneration 10.8
37 chorea, childhood-onset, with psychomotor retardation 10.8
38 myoclonic epilepsy of unverricht and lundborg 10.8
39 epilepsy 10.7
40 visual epilepsy 10.7
41 seizure disorder 10.7
42 muscular atrophy 10.6
43 tremor 10.6
44 hemidystonia 10.5
45 lateral sclerosis 10.5
46 athetosis 10.5
47 spasticity 10.5
48 hereditary episodic ataxia 10.4 SLC1A3 CACNA1A
49 cervical cancer 10.4
50 tay-sachs disease 10.4

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



Diseases related to Dentatorubral-Pallidoluysian Atrophy

Symptoms & Phenotypes for Dentatorubral-Pallidoluysian Atrophy

Human phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 atrophy of the dentate nucleus 31 hallmark (90%) HP:0007047
3 fetal cystic hygroma 31 hallmark (90%) HP:0010878
4 seizures 58 31 very rare (1%) Frequent (79-30%) HP:0001250
5 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 myoclonus 58 31 very rare (1%) Frequent (79-30%) HP:0001336
8 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
9 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
10 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
11 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
12 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
13 dementia 58 31 very rare (1%) Frequent (79-30%) HP:0000726
14 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
15 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
16 optic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001138
17 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
18 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
19 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
20 action tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002345
21 dyssynergia 58 31 frequent (33%) Frequent (79-30%) HP:0010867
22 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
23 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
24 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
25 oromandibular dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012048
26 ataxia 58 31 very rare (1%) Frequent (79-30%) HP:0001251
27 abnormal pyramidal sign 31 very rare (1%) HP:0007256
28 chorea 31 very rare (1%) HP:0002072
29 cognitive impairment 58 Frequent (79-30%)
30 involuntary movements 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
myoclonus
dementia
choreoathetosis
cerebellar ataxia
more

Clinical features from OMIM:

125370

UMLS symptoms related to Dentatorubral-Pallidoluysian Atrophy:


seizures, myoclonus, cerebellar ataxia

MGI Mouse Phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2
2 growth/size/body region MP:0005378 10.13 ATN1 ATXN1 ATXN2 ATXN7 BAIAP2 BAIAP2L1
3 homeostasis/metabolism MP:0005376 10.07 ATN1 ATXN1 ATXN2 ATXN3 BAIAP2 BAIAP2L1
4 mortality/aging MP:0010768 10.03 ATN1 ATXN1 ATXN2 ATXN7 BAIAP2 BAIAP2L1
5 nervous system MP:0003631 9.83 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2
6 no phenotypic analysis MP:0003012 9.23 ATN1 CACNA1A CASP3 HTT PML PVALB

Drugs & Therapeutics for Dentatorubral-Pallidoluysian Atrophy

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

(show all 6)
# 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 Dopamine Agents Phase 2
4 Neurotransmitter Agents Phase 2
5 Dopamine agonists Phase 2
6 Antiparkinson Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
2 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Dentatorubral-Pallidoluysian Atrophy

Cochrane evidence based reviews: myoclonic epilepsies, progressive

Genetic Tests for Dentatorubral-Pallidoluysian Atrophy

Genetic tests related to Dentatorubral-Pallidoluysian Atrophy:

# Genetic test Affiliating Genes
1 Dentatorubral Pallidoluysian Atrophy 29 ATN1

Anatomical Context for Dentatorubral-Pallidoluysian Atrophy

MalaCards organs/tissues related to Dentatorubral-Pallidoluysian Atrophy:

40
Brain, Heart, T Cells, Bone, Liver, Lung, Eye

Publications for Dentatorubral-Pallidoluysian Atrophy

Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50) (show all 640)
# Title Authors PMID Year
1
Dentatorubral-pallidoluysian atrophy and Haw River syndrome. 61 24 56 6
7996992 1994
2
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. 61 24 56 6
7951323 1994
3
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). 61 24 56 6
8136840 1994
4
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 61 24 52 6
24418350 2014
5
Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. 54 61 24 56
9933295 1998
6
Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent. 61 24 56
15948186 2005
7
Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. 61 24 56
11160976 2001
8
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. 61 24 56
9758625 1998
9
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? 61 24 56
7477999 1995
10
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. 61 24 56
8136826 1994
11
Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. 56 6
8325628 1993
12
Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. 61 24 56
6808417 1982
13
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. 61 24 52
20589872 2010
14
Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. 54 61 56
9845282 1998
15
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. 54 61 56
8612237 1996
16
Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy. 54 61 56
8557266 1996
17
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. 54 61 56
7868125 1995
18
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. 61 56
15480876 2004
19
Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. 54 61 24
12464607 2003
20
Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy. 61 56
12402270 2002
21
Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. 54 61 24
11198291 2001
22
DRPLA 61 6
20301664 1999
23
Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis. 54 61 24
10332031 1999
24
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. 61 56
9949204 1999
25
Clinical and electroencephalographic findings in juvenile type DRPLA. 61 56
9568927 1998
26
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. 54 61 24
9462738 1998
27
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. 61 56
9550356 1998
28
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. 61 56
8644735 1996
29
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. 61 56
8929958 1996
30
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. 61 56
8557270 1996
31
[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families]. 61 56
8745629 1995
32
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). 61 56
7633415 1995
33
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. 61 56
7824105 1995
34
Maternal anticipation of DRPLA. 61 56
7981699 1994
35
Anticipation in hereditary dentatorubral-pallidoluysian atrophy. 61 56
8005597 1994
36
DRPLA in Europe. 61 56
8012381 1994
37
Is DRPLA also linked to 14q? 61 56
8136838 1994
38
Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. 61 56
1957976 1991
39
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. 61 56
1969487 1990
40
Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. 61 56
3386824 1988
41
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. 61 24
26538302 2016
42
Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy. 61 24
26723987 2016
43
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation. 61 24
24401908 2014
44
DRPLA: recent advances in research using transgenic mouse models. 61 24
23754232 2013
45
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. 61 24
22527233 2012
46
Autophagy-related proteins (p62, NBR1 and LC3) in intranuclear inclusions in neurodegenerative diseases. 61 24
22728060 2012
47
Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease. 61 24
22318854 2012
48
DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles. 61 24
22342974 2012
49
Dentatorubral-pallidoluysian atrophy. 61 24
21827919 2012
50
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010

Variations for Dentatorubral-Pallidoluysian Atrophy

ClinVar genetic disease variations for Dentatorubral-Pallidoluysian Atrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATN1 , LOC109461484 NM_001007026.1(ATN1):c.1462CAG[(49_55)] (p.Gln488[(49-55)])NT expansion Pathogenic 37031 12:7045892-7045894 12:6936729-6936731
2 ATN1 , LOC109461484 NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])NT expansion Pathogenic 38905 12:7045892-7045894 12:6936729-6936731
3 NM_001007026.1:c.1462CAG[(48_93)]NT expansion Pathogenic 587700
4 ATN1 ATN1, (CAG)n REPEAT EXPANSIONNT expansion Pathogenic 590267
5 ATN1 NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])short repeat Conflicting interpretations of pathogenicity 210377 rs60216939 12:7045891-7045892 12:6936728-6936729
6 ATN1 , LOC109461484 NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])NT expansion Benign 38904 12:7045892-7045894 12:6936729-6936731

Expression for Dentatorubral-Pallidoluysian Atrophy

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

Pathways for Dentatorubral-Pallidoluysian Atrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 PPP2R2B HTT FGF14 CASP3 ATXN7 ATXN3
2
Show member pathways
12.16 CASP3 ATXN7 ATXN3 ATXN2 ATXN1
3 12.09 SLC1A3 HTT GAPDH ATXN1
4 11.56 GAPDH CASP3 BAIAP2L1 BAIAP2

GO Terms for Dentatorubral-Pallidoluysian Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 TBP PVALB PPP2R2B PML HTT GAPDH
2 neuronal cell body GO:0043025 9.55 SLC1A3 PVALB CASP3 CACNA1A BAIAP2
3 postsynaptic cytosol GO:0099524 9.37 HTT BAIAP2
4 presynaptic cytosol GO:0099523 9.32 HTT BAIAP2
5 nuclear inclusion body GO:0042405 9.26 ATXN3 ATXN1
6 nuclear matrix GO:0016363 9.02 PML ATXN7 ATXN3 ATXN1 ATN1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.5 GAPDH ATXN7 ATXN3
2 positive regulation of actin cytoskeleton reorganization GO:2000251 9.4 BAIAP2L1 BAIAP2
3 plasma membrane organization GO:0007009 9.37 BAIAP2L1 BAIAP2
4 regulation of synaptic plasticity GO:0048167 9.33 JPH3 FGF14 BAIAP2
5 actin crosslink formation GO:0051764 9.26 BAIAP2L1 BAIAP2
6 neuromuscular process controlling balance GO:0050885 9.13 SLC1A3 JPH3 CACNA1A
7 neuron apoptotic process GO:0051402 8.8 GAPDH CASP3 ATN1

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

# Name GO ID Score Top Affiliating Genes
1 proline-rich region binding GO:0070064 8.96 BAIAP2L1 BAIAP2
2 cadherin binding involved in cell-cell adhesion GO:0098641 8.62 BAIAP2L1 BAIAP2

Sources for Dentatorubral-Pallidoluysian Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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