DRPLA
MCID: DNT005
MIFTS: 59

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

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

Aliases & Classifications for Dentatorubral-Pallidoluysian Atrophy

MalaCards integrated aliases for Dentatorubral-Pallidoluysian Atrophy:

Name: Dentatorubral-Pallidoluysian Atrophy 57 12 73 25 20 43 72 29 6 15 70
Drpla 57 12 25 20 43 58 72 54
Naito-Oyanagi Disease 57 12 43 58
Haw River Syndrome 57 12 20 43
Myoclonic Epilepsy with Choreoathetosis 57 20 43
Dentatorubropallidoluysian Atrophy 20 58 36
Nod 57 20 43
Ataxia, Chorea, Seizures, and Dementia 57 20
Atrophy, Pallidoluysian, Dentatorubral 39
Dentatorubral Pallidoluysian Atrophy 58
Dentatorubro-Pallidoluysian Atrophy 13
Myoclonic Epilepsies, Progressive 44
Naito-Oyanagi Disease; Nod 57
Haw River Syndrome; Hrs 57
Naito Oyanagi Disease 20
Hrs 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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:

25
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


Summaries for Dentatorubral-Pallidoluysian Atrophy

MedlinePlus Genetics : 43 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 myoclonus and myoclonus epilepsy, 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 is Spinocerebellar ataxia. The drugs Dopamine and Ropinirole have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and cortex, 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.

GARD : 20 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.

OMIM® : 57 Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder with protean clinical manifestations consisting of various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia. The clinical presentation correlates with the size of the causative CAG repeats, and as such, affected family members can present with very different patterns of the disorder (summary by Vinton et al., 2005). (125370) (Updated 05-Apr-2021)

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 : 72 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 : 73 Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration... more...

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 222)
# Related Disease Score Top Affiliating Genes
1 myoclonus 32.1 SCARB2 GOSR2 EPM2A CSTB
2 myoclonus epilepsy 32.1 SCARB2 EPM2A CSTB
3 progressive myoclonus epilepsy 31.9 SCARB2 GOSR2 EPM2A CSTB
4 huntington disease 31.8 TBP JPH3 HTT ATXN7 ATXN3 ATXN1
5 spinocerebellar degeneration 31.7 ATXN3 ATXN2 ATXN1
6 early myoclonic encephalopathy 31.6 SCARB2 GOSR2 EPM2A CSTB CACNA1A ATN1
7 machado-joseph disease 31.6 TBP PPP2R2B HTT CACNA1A ATXN7 ATXN3
8 autosomal dominant cerebellar ataxia 31.5 TBP PPP2R2B LOC109461484 JPH3 HTT CACNA1A
9 myoclonic epilepsy of unverricht and lundborg 31.5 SCARB2 LRRC37A2 GOSR2 FBXO30-DT EPM2A CSTB
10 epilepsy 31.5 SCARB2 GOSR2 EPM2A CSTB CACNA1A ATN1
11 choreatic disease 31.4 TBP JPH3 HTT CSTB CACNA1A ATXN7
12 spinocerebellar ataxia 1 31.3 TBP PPP2R2B HTT CACNA1A ATXN7 ATXN3
13 dystonia 31.1 TBP JPH3 HTT CSTB CACNA1A ATXN7
14 hereditary ataxia 31.0 TBP PPP2R2B CACNA1A ATXN7 ATXN3 ATXN2
15 spinocerebellar ataxia 10 30.9 PPP2R2B JPH3 CACNA1A ATXN7 ATXN3 ATXN2
16 friedreich ataxia 30.9 TBP PPP2R2B CACNA1A ATXN3 ATXN2 ATXN1
17 dementia 30.8 JPH3 HTT EPM2A CSTB CACNA1A ATXN3
18 spinocerebellar ataxia 7 30.6 ATXN7 ATXN3 ATXN2 ATXN1
19 spinocerebellar ataxia 2 30.6 JPH3 HTT CACNA1A ATXN7 ATXN3 ATXN2
20 movement disease 30.4 TBP HTT CACNA1A ATXN3 ATXN2
21 unverricht-lundborg syndrome 30.3 SCARB2 LRRC37A2 GOSR2 FBXO30-DT EPM2A CSTB
22 epilepsy, myoclonic juvenile 30.2 EPM2A CSTB CACNA1A
23 lymphoma, hodgkin, classic 11.3
24 hepatorenal syndrome 11.1
25 ataxia and polyneuropathy, adult-onset 10.9
26 aspiration pneumonitis 10.9
27 chorea, childhood-onset, with psychomotor retardation 10.6
28 atrial fibrillation 10.6
29 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 10.5 LOC109461484 ATN1
30 seizure disorder 10.5
31 progressive myoclonus epilepsy 6 10.5 GOSR2 EPM2A
32 olivopontocerebellar atrophy 10.5 CACNA1A ATXN7 ATXN2
33 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.5 CACNA1A ATXN7 ATXN3 ATXN2
34 neonatal period electroclinical syndrome 10.5 EPM2A CSTB CACNA1A
35 huntington disease-like 1 10.5 TBP JPH3 ATN1
36 heart disease 10.5
37 spinocerebellar ataxia 30 10.5 PPP2R2B CACNA1A ATXN7 ATXN1
38 tactile agnosia 10.5 PPP2R2B ATXN7
39 episodic ataxia, type 2 10.4 CACNA1A ATXN7 ATXN1
40 fragile x-associated tremor/ataxia syndrome 10.4 PPP2R2B JPH3 ATXN7 ATXN2
41 muscular atrophy 10.4
42 tremor 10.4
43 episodic ataxia 10.4 PPP2R2B CACNA1A ATXN7 ATXN1
44 epilepsy, progressive myoclonic, 6 10.4 LRRC37A2 GOSR2
45 dystonia 12 10.4 CACNA1A ATXN1 ATN1
46 spinocerebellar ataxia 8 10.4 PPP2R2B JPH3 HTT ATXN7 ATXN2 ATXN1
47 myoclonic epilepsy of lafora 10.4 FBXO30-DT EPM2A CSTB
48 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4 HTT CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
49 syncope 10.4
50 cerebellar ataxia type 9 10.4 PPP2R2B ATXN7

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 31)
# 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 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 myoclonus 58 31 very rare (1%) Frequent (79-30%) HP:0001336
7 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
8 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
9 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
10 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
11 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
12 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
13 optic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001138
14 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
15 dementia 58 31 very rare (1%) Frequent (79-30%) HP:0000726
16 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
17 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
18 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
19 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
20 action tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002345
21 dyssynergia 58 31 frequent (33%) Frequent (79-30%) HP:0010867
22 seizure 31 very rare (1%) HP:0001250
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 seizures 58 Frequent (79-30%)
30 cognitive impairment 58 Frequent (79-30%)
31 involuntary movements 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
myoclonus
choreoathetosis
dementia
cerebellar ataxia
more

Clinical features from OMIM®:

125370 (Updated 05-Apr-2021)

UMLS symptoms related to Dentatorubral-Pallidoluysian Atrophy:


seizures; myoclonus; cerebellar ataxia

MGI Mouse Phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2
2 growth/size/body region MP:0005378 10.1 ATN1 ATXN1 ATXN2 ATXN7 BAIAP2 BAIAP2L1
3 homeostasis/metabolism MP:0005376 9.97 ATN1 ATXN1 ATXN2 ATXN3 BAIAP2 BAIAP2L1
4 mortality/aging MP:0010768 9.8 ATN1 ATXN1 ATXN2 ATXN7 BAIAP2 BAIAP2L1
5 nervous system MP:0003631 9.47 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BAIAP2

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 62-31-7, 51-61-6 681
2
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 497540 5095
3 Neurotransmitter Agents Phase 2
4 Dopamine 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

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, Endothelial, Cortex, Cerebellum, Globus Pallidus, Eye, Spinal Cord

Publications for Dentatorubral-Pallidoluysian Atrophy

Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50) (show all 679)
# Title Authors PMID Year
1
Dentatorubral-pallidoluysian atrophy and Haw River syndrome. 25 57 61 6
7996992 1994
2
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. 25 57 61 6
7951323 1994
3
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). 61 25 6 57
8136840 1994
4
Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. 54 61 57 25
9933295 1998
5
Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent. 61 25 57
15948186 2005
6
Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. 25 57 61
11160976 2001
7
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 57 25
9758625 1998
8
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? 25 57 61
7477999 1995
9
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. 57 25 61
8136826 1994
10
Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. 57 6
8325628 1993
11
Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. 25 57 61
6808417 1982
12
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 61 25 20
24418350 2014
13
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. 61 25 20
20589872 2010
14
Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. 61 54 57
9845282 1998
15
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. 57 54 61
8612237 1996
16
Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy. 57 54 61
8557266 1996
17
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. 57 54 61
7868125 1995
18
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. 61 57
15480876 2004
19
Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. 25 54 61
12464607 2003
20
Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy. 61 57
12402270 2002
21
Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. 61 54 25
11198291 2001
22
Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis. 61 25 54
10332031 1999
23
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. 57 61
9949204 1999
24
Clinical and electroencephalographic findings in juvenile type DRPLA. 57 61
9568927 1998
25
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. 54 61 25
9462738 1998
26
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. 61 57
9550356 1998
27
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. 61 57
8644735 1996
28
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. 57 61
8929958 1996
29
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 57
8557270 1996
30
[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families]. 57 61
8745629 1995
31
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). 57 61
7633415 1995
32
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. 57 61
7824105 1995
33
Maternal anticipation of DRPLA. 57 61
7981699 1994
34
Anticipation in hereditary dentatorubral-pallidoluysian atrophy. 61 57
8005597 1994
35
DRPLA in Europe. 61 57
8012381 1994
36
Is DRPLA also linked to 14q? 57 61
8136838 1994
37
Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. 61 57
1957976 1991
38
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. 57 61
1969487 1990
39
Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. 57 61
3386824 1988
40
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. 6
28982678 2017
41
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. 6
26843564 2016
42
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. 61 25
26538302 2016
43
Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy. 61 25
26723987 2016
44
Late onset Lafora disease and novel EPM2A mutations: breaking paradigms. 6
25246353 2014
45
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
46
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 6
23659519 2014
47
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation. 25 61
24401908 2014
48
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. 6
23449775 2013
49
DRPLA: recent advances in research using transgenic mouse models. 61 25
23754232 2013
50
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. 6
23205931 2012

Variations for Dentatorubral-Pallidoluysian Atrophy

ClinVar genetic disease variations for Dentatorubral-Pallidoluysian Atrophy:

6 (show top 50) (show all 604)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSTB NM_000100.3(CSTB):c.200_203dup (p.Val69fs) Duplication Pathogenic 659184 rs1601855887 GRCh37: 21:45194176-45194177
GRCh38: 21:43774295-43774296
2 GOSR2 , LRRC37A2 NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) SNV Pathogenic 659698 rs1380954046 GRCh37: 17:45008554-45008554
GRCh38: 17:46931188-46931188
3 CSTB NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) SNV Pathogenic 575156 rs1569006250 GRCh37: 21:45196087-45196087
GRCh38: 21:43776206-43776206
4 GOSR2 NC_000017.11:g.(?_46923173)_(46940633_?)del Deletion Pathogenic 831185 GRCh37: 17:45000539-45017999
GRCh38:
5 GOSR2 , LRRC37A2 NM_004287.5(GOSR2):c.262del (p.Gln88fs) Deletion Pathogenic 859319 GRCh37: 17:45009490-45009490
GRCh38: 17:46932124-46932124
6 SCARB2 NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) Duplication Pathogenic 938927 GRCh37: 4:77091130-77091131
GRCh38: 4:76169977-76169978
7 SCARB2 NM_005506.4(SCARB2):c.956del (p.Leu319fs) Deletion Pathogenic 971806 GRCh37: 4:77095335-77095335
GRCh38: 4:76174182-76174182
8 ATN1 NG_008047.1:g.17267CAG[(54-68)] Microsatellite Pathogenic 590267 GRCh37:
GRCh38:
9 LOC109461484 , ATN1 NM_001007026.1(ATN1):c.1462CAG[(49_55)] (p.Gln488[(49-55)]) Microsatellite Pathogenic 37031 GRCh37: 12:7045892-7045894
GRCh38: 12:6936729-6936731
10 LOC109461484 , ATN1 NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)]) Microsatellite Pathogenic 38905 GRCh37: 12:7045892-7045894
GRCh38: 12:6936729-6936731
11 EPM2A NC_000006.12:g.(?_145686102)_(145686316_?)del Deletion Pathogenic 462911 GRCh37:
GRCh38: 6:145686102-145686316
12 EPM2A NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) SNV Pathogenic 462933 rs1387516050 GRCh37: 6:145948803-145948803
GRCh38: 6:145627667-145627667
13 EPM2A and overlap with 1 gene(s) NC_000006.12:g.(?_145625675)_(145735518_?)del Deletion Pathogenic 654665 GRCh37: 6:145946811-146056654
GRCh38: 6:145625675-145735518
14 SCARB2 NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) Microsatellite Pathogenic 7377 rs727502773 GRCh37: 4:77100846-77100847
GRCh38: 4:76179693-76179694
15 EPM2A NC_000006.12:g.(?_145625675)_(145635506_?)del Deletion Pathogenic 830902 GRCh37: 6:145946811-145956642
GRCh38:
16 EPM2A NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) SNV Pathogenic 834981 GRCh37: 6:145948713-145948713
GRCh38: 6:145627577-145627577
17 EPM2A , FBXO30-DT NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) SNV Pathogenic 862225 GRCh37: 6:146056561-146056561
GRCh38: 6:145735425-145735425
18 EPM2A NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) Microsatellite Pathogenic 954222 GRCh37: 6:146007369-146007370
GRCh38: 6:145686233-145686234
19 EPM2A , FBXO30-DT NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) Deletion Pathogenic 956069 GRCh37: 6:146056517-146056517
GRCh38: 6:145735381-145735381
20 overlap with 10 genes NC_000021.8:g.(?_44838120)_(45629566_?)del Deletion Pathogenic 830406 GRCh37: 21:44838120-45629566
GRCh38:
21 EPM2A NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) SNV Pathogenic 381553 rs781291421 GRCh37: 6:145956604-145956604
GRCh38: 6:145635468-145635468
22 CSTB NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) Microsatellite Pathogenic 55960 rs796943858 GRCh37: 21:45194161-45194162
GRCh38: 21:43774280-43774281
23 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 GRCh37: 21:45194641-45194641
GRCh38: 21:43774760-43774760
24 SCARB2 NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) SNV Pathogenic 206709 rs200053119 GRCh37: 4:77102169-77102169
GRCh38: 4:76181016-76181016
25 EPM2A NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) SNV Pathogenic 3098 rs104893950 GRCh37: 6:145948827-145948827
GRCh38: 6:145627691-145627691
26 GOSR2 , LRRC37A2 NM_004287.4(GOSR2):c.336+1G>A SNV Pathogenic 211092 rs141554661 GRCh37: 17:45009566-45009566
GRCh38: 17:46932200-46932200
27 CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) SNV Pathogenic 161418 rs545986367 GRCh37: 21:45194571-45194571
GRCh38: 21:43774690-43774690
28 GOSR2 , LRRC37A2 NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) SNV Pathogenic 30406 rs387906881 GRCh37: 17:45012488-45012488
GRCh38: 17:46935122-46935122
29 SCARB2 NM_005506.4(SCARB2):c.424-1G>A SNV Likely pathogenic 951742 GRCh37: 4:77100859-77100859
GRCh38: 4:76179706-76179706
30 GOSR2 , LRRC37A2 NM_004287.4(GOSR2):c.337-2A>G SNV Likely pathogenic 578675 rs1568177307 GRCh37: 17:45012393-45012393
GRCh38: 17:46935027-46935027
31 GOSR2 , LRRC37A2 NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) SNV Conflicting interpretations of pathogenicity 205627 rs113817924 GRCh37: 17:45006896-45006896
GRCh38: 17:46929530-46929530
32 GOSR2 , LRRC37A2 NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) SNV Uncertain significance 205629 rs143754727 GRCh37: 17:45008518-45008518
GRCh38: 17:46931152-46931152
33 GOSR2 , LRRC37A2 NM_004287.4(GOSR2):c.*18G>T SNV Uncertain significance 323827 rs778066395 GRCh37: 17:45016144-45016144
GRCh38: 17:46938778-46938778
34 overlap with 10 genes NC_000021.8:g.(?_44838120)_(45629566_?)dup Duplication Uncertain significance 832239 GRCh37: 21:44838120-45629566
GRCh38:
35 SCARB2 NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) SNV Uncertain significance 206722 rs368906199 GRCh37: 4:77134617-77134617
GRCh38: 4:76213464-76213464
36 GOSR2 , LRRC37A2 NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) SNV Uncertain significance 205631 rs150907052 GRCh37: 17:45015996-45015996
GRCh38: 17:46938630-46938630
37 EPM2A NM_005670.4(EPM2A):c.524A>G (p.His175Arg) SNV Uncertain significance 626099 rs1264840627 GRCh37: 6:145956575-145956575
GRCh38: 6:145635439-145635439
38 EPM2A NM_005670.4(EPM2A):c.636G>A (p.Met212Ile) SNV Uncertain significance 940467 GRCh37: 6:145956463-145956463
GRCh38: 6:145635327-145635327
39 EPM2A NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp) SNV Uncertain significance 941455 GRCh37: 6:146007282-146007282
GRCh38: 6:145686146-145686146
40 EPM2A NM_005670.4(EPM2A):c.707T>C (p.Met236Thr) SNV Uncertain significance 945480 GRCh37: 6:145956392-145956392
GRCh38: 6:145635256-145635256
41 EPM2A , FBXO30-DT NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp) SNV Uncertain significance 947752 GRCh37: 6:146056364-146056364
GRCh38: 6:145735228-145735228
42 EPM2A , FBXO30-DT NM_005670.4(EPM2A):c.149G>T (p.Gly50Val) SNV Uncertain significance 950670 GRCh37: 6:146056486-146056486
GRCh38: 6:145735350-145735350
43 EPM2A , FBXO30-DT NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg) SNV Uncertain significance 951749 GRCh37: 6:146056619-146056619
GRCh38: 6:145735483-145735483
44 EPM2A NM_005670.4(EPM2A):c.595G>T (p.Val199Leu) SNV Uncertain significance 588602 rs367827948 GRCh37: 6:145956504-145956504
GRCh38: 6:145635368-145635368
45 EPM2A NM_005670.4(EPM2A):c.352G>A (p.Val118Met) SNV Uncertain significance 842001 GRCh37: 6:146007382-146007382
GRCh38: 6:145686246-145686246
46 EPM2A NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg) SNV Uncertain significance 844153 GRCh37: 6:145956594-145956594
GRCh38: 6:145635458-145635458
47 EPM2A NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys) SNV Uncertain significance 850428 GRCh37: 6:145948575-145948575
GRCh38: 6:145627439-145627439
48 EPM2A NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr) SNV Uncertain significance 853393 GRCh37: 6:145948746-145948746
GRCh38: 6:145627610-145627610
49 EPM2A , FBXO30-DT NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln) SNV Uncertain significance 854787 GRCh37: 6:146056582-146056582
GRCh38: 6:145735446-145735446
50 EPM2A NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe) SNV Uncertain significance 855065 GRCh37: 6:146007297-146007297
GRCh38: 6:145686161-145686161

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 11.18 TBP CACNA1A ATXN3 ATXN2 ATXN1

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 10.1 TBP SCARB2 PPP2R2B HTT EPM2A CSTB
2 postsynaptic cytosol GO:0099524 9.32 HTT BAIAP2
3 presynaptic cytosol GO:0099523 9.16 HTT BAIAP2
4 nuclear inclusion body GO:0042405 8.96 ATXN3 ATXN1
5 nuclear matrix GO:0016363 8.92 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 plasma membrane organization GO:0007009 9.26 BAIAP2L1 BAIAP2
2 positive regulation of actin cytoskeleton reorganization GO:2000251 9.16 BAIAP2L1 BAIAP2
3 actin crosslink formation GO:0051764 8.96 BAIAP2L1 BAIAP2
4 exploration behavior GO:0035640 8.62 JPH3 ATXN3

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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