DYT12
MCID: DYS056
MIFTS: 54

Dystonia 12 (DYT12)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 12

MalaCards integrated aliases for Dystonia 12:

Name: Dystonia 12 57 12 12 53 59 75 29 6 15 73
Dyt12 57 53 25 59 75
Dystonia Musculorum Deformans 12 76 44 73
Generalized Dystonia 12 29 6 15
Rdp 57 53 25 75
Rapid-Onset Dystonia-Parkinsonism 53 59 75
Dystonia-12 57 75 13
Idiopathic Non-Familial Dystonia 12 73
Idiopathic Familial Dystonia 12 73
Symptomatic Torsion Dystonia 12 73
Familial Dystonia 12 73
Dystonia-Parkinsonism, Rapid-Onset; Rdp 57
Dystonia-Parkinsonism, Rapid-Onset 57
Rapid-Onset Dystonia Parkinsonism 25
Dystonia Deformans Progressiva 12
Dystonia 3, Torsion, X-Linked 73
Fragments of Torsion Dystonia 12
Idiopathic Torsion Dystonia 12
Dystonic Disorders 44
Dystonia Disorders 73
Dystonia, Type 12 40
Dyt-Atp1a3 53
Rodp 25

Characteristics:

Orphanet epidemiological data:

59
rapid-onset dystonia-parkinsonism
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
onset usually in late adolescence or early adulthood (range 15 to 45 years)
childhood onset rarely occurs
treatment with levodopa is not effective


HPO:

32
dystonia 12:
Onset and clinical course incomplete penetrance young adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dystonia 12

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 71517Disease definitionRapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.EpidemiologyThe prevalence is unknown. Fewer than 100 patients have been described worldwide to date.Clinical descriptionRDP typically presents in childhood or early adulthood (but age of onset can range from 4-55 years) with the abrupt onset of dystonia along with parkinsonism (bradykinesia and postural instability) with a rostrocaudal gradient and prominent bulbar symptoms (dysarthria and dysphagia) that do not respond to dopaminergic medication. Symptoms may develop over several minutes to 30 days, after which time they stabilize. Often onset is triggered by physical exertion, fever, extreme heat, childbirth, excessive alcohol consumption or emotional stress. Some patients experience mild upper limb dystonia (mainly in the hands) and cramping before disease onset occurs. In most cases the disease stabilizes, but a few cases have been reported where a second episode of worsening of symptoms occurred 1-9 years after initial onset. In rare cases seizures, anxiety and depression have been reported. Recently, a variant phenotype in infants (EtiologyRDP is caused by several missense mutations in the ATP1A3 gene (19q13.2) encoding the sodium/potassium-transporting ATPase subunit alpha-3 protein, which is important for maintaining the electrochemical gradients of potassium and sodium across the plasma membrane. These mutations are thought to lead to neuronal dysfunction. Other genes, which have not yet been identified, may also be involved.Diagnostic methodsDiagnosis is based on the sudden onset of clinical manifestations (parkinsonism and dystonia), the finding of low homovanillic acid concentrations in cerebrospinal fluid (CSF), normal brain imaging studies and the lack of response to levodopa (L-dopa) therapy. Positron emission tomography (PET) and single-photon emission computed tomography (SPECT) studies show normal dopamine reuptake in dopamine transporters. A mutation in the ATP1A3 gene may confirm diagnosis.Differential diagnosisDifferential diagnosis includes other forms of dystonia-parkinsonism, such as young adult-onset parkinsonism, dopa-responive dystonia (DRD), dystonia 16 (DYT16) and X-linked dystonia parkinsonism (DYT3). Unlike DYT3 and other forms of young-onset parkinsonism, RDP is not a neurodegenerative disorder.Antenatal diagnosisPrenatal diagnosis is possible in families where a disease causing mutation is known.Genetic counselingRDP is inherited in an autosomal dominant manner with reduced penetrance, and genetic counseling is possible and recommended. De novo mutations are also observed.Management and treatmentThere is no effective treatment for RDP at present. L-dopa is ineffective. Pallidal deep brain stimulation (DBS) has shown limited or no therapeutic effects. If present, seizures, anxiety and depression can be treated with standard therapy. High-dose benzodiazepines and possibly other muscle relaxants may offer some symptomatic relief. All known triggers of RDP should be avoided. Physical therapy is recommended.PrognosisThere is no effect on life expectancy, but quality of life is severely affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia 12, also known as dyt12, is related to early-onset generalized dystonia and hereditary dystonia, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Dystonia 12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include brain, eye and skin, and related phenotypes are emotional lability and depressivity

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has material basis in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.

Genetics Home Reference : 25 Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.

OMIM : 57 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by Rosewich et al., 2014). (128235)

UniProtKB/Swiss-Prot : 75 Dystonia 12: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.

Wikipedia : 76 Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle... more...

Related Diseases for Dystonia 12

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia

Diseases related to Dystonia 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 early-onset generalized dystonia 33.4 TOR1A THAP1 PRKRA GCH1
2 hereditary dystonia 31.5 TUBB4A GCH1
3 dystonia 3, torsion, x-linked 31.2 THAP1 GCH1 ATP1A3
4 dystonia 1, torsion, autosomal dominant 31.1 TOR1A SGCE GCH1 CAMP
5 oromandibular dystonia 29.8 TOR1A THAP1 GCH1 CAMP
6 blepharospasm 29.8 TOR1A THAP1 GCH1 CAMP
7 dystonia 11, myoclonic 29.7 TOR1A THAP1 SGCE GCH1 CAMP ATP1A3
8 dystonia, dopa-responsive 29.7 TOR1A THAP1 SGCE PRKRA GCH1 ATP1A3
9 movement disease 29.3 TOR1A SGCE PANK2 GCH1 ATP1A3
10 cervical dystonia 29.3 TOR1A THAP1 GCH1 CAMP
11 dystonia 28.4 TUBB4A TOR1A THAP1 SGCE PRKRA PANK2
12 early-onset generalized limb-onset dystonia 12.0
13 adolescent-onset dystonia of mixed type 11.3
14 dystonia 7, torsion 11.3
15 hyperphenylalaninemia, bh4-deficient, a 11.2
16 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 11.1
17 dystonia 16 11.0
18 leber optic atrophy and dystonia 11.0
19 dystonia 4, torsion, autosomal dominant 10.8
20 dystonia 2, torsion, autosomal recessive 10.8
21 torsion dystonia with onset in infancy 10.8
22 segawa syndrome, autosomal recessive 10.8
23 neurodegeneration with brain iron accumulation 4 10.8
24 x-linked dystonia-parkinsonism/lubag 10.8
25 dystonia 13, torsion, autosomal dominant 10.4
26 dystonia 21 10.4
27 dystonia 25 10.4
28 dystonia 27 10.4
29 cerebral palsy 10.4
30 alternating hemiplegia of childhood 10.4
31 hemiplegia 10.4
32 dystonia 17, torsion, autosomal recessive 10.3
33 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.3
34 parkinson disease 14, autosomal recessive 10.3
35 torsion dystonia 2 10.3
36 torsion dystonia 4 10.3
37 torsion dystonia 17 10.3
38 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
39 piriformis syndrome 10.3
40 talipes equinovarus 10.3
41 panencephalitis, subacute sclerosing 10.1
42 renal fibrosis 10.1
43 dystonia 24 10.0 TOR1A THAP1
44 oculogyric crisis 10.0 GCH1 ATP1A3
45 carpal tunnel syndrome 10.0
46 dyschromatosis symmetrica hereditaria 10.0
47 schizophrenia 10.0
48 mononeuropathy of the median nerve, mild 10.0
49 dyschromatosis universalis hereditaria 3 10.0
50 essential tremor 10.0

Graphical network of the top 20 diseases related to Dystonia 12:



Diseases related to Dystonia 12

Symptoms & Phenotypes for Dystonia 12

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
anxiety
depression

Head And Neck Neck:
torticollis

Neurologic Central Nervous System:
dysarthria
dysphagia
dystonia
bradykinesia
parkinsonism
more
Head And Neck Face:
hypomimic face
facial dystonia


Clinical features from OMIM:

128235

Human phenotypes related to Dystonia 12:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 Occasional (29-5%) HP:0000712
2 depressivity 59 32 Occasional (29-5%) HP:0000716
3 dysarthria 59 32 Frequent (79-30%) HP:0001260
4 dysphagia 59 32 Frequent (79-30%) HP:0002015
5 anxiety 59 32 Occasional (29-5%) HP:0000739
6 bradykinesia 59 32 Frequent (79-30%) HP:0002067
7 torticollis 59 32 Frequent (79-30%) HP:0000473
8 parkinsonism 59 32 Frequent (79-30%) HP:0001300
9 drooling 59 32 Frequent (79-30%) HP:0002307
10 hypomimic face 59 32 Frequent (79-30%) HP:0000338
11 postural instability 59 32 Frequent (79-30%) HP:0002172
12 mutism 59 32 Frequent (79-30%) HP:0002300
13 seizures 59 Occasional (29-5%)
14 fever 32 HP:0001945
15 gait ataxia 59 Frequent (79-30%)
16 motor delay 59 Frequent (79-30%)
17 cerebellar atrophy 59 Occasional (29-5%)
18 generalized hypotonia 59 Very rare (<4-1%)
19 unsteady gait 32 HP:0002317
20 resting tremor 59 Occasional (29-5%)
21 limb dystonia 59 Frequent (79-30%)
22 craniofacial dystonia 59 Frequent (79-30%)

UMLS symptoms related to Dystonia 12:


seizures, tremor, myoclonus, dystonia, back pain, pain, headache, bradykinesia, torticollis, syncope, opisthotonus, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle cramp, spasm, spasmodic torticollis, dystonia, paroxysmal, dystonia, limb, spasm oropharyngeal, neck cramps

MGI Mouse Phenotypes related to Dystonia 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 ATCAY ATP1A3 PANK2 PRKRA SGCE THAP1
2 mortality/aging MP:0010768 9.86 ATCAY ATP1A3 CAMP GCH1 PANK2 PRKRA
3 muscle MP:0005369 9.63 ATCAY ATP1A3 PANK2 PRKRA SGCE TOR1A
4 nervous system MP:0003631 9.56 ATCAY ATP1A3 GCH1 PANK2 PRKRA SGCE
5 vision/eye MP:0005391 9.02 CAMP PANK2 PRKRA THAP1 TOR1A

Drugs & Therapeutics for Dystonia 12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders Recruiting NCT00682513
2 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Dystonia 12

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: dystonia musculorum deformans

Genetic Tests for Dystonia 12

Genetic tests related to Dystonia 12:

# Genetic test Affiliating Genes
1 Dystonia 12 29 ATP1A3
2 Generalized Dystonia 29

Anatomical Context for Dystonia 12

MalaCards organs/tissues related to Dystonia 12:

41
Brain, Eye, Skin, Bone

Publications for Dystonia 12

Articles related to Dystonia 12:

(show top 50) (show all 64)
# Title Authors Year
1
Fat embolism syndrome in a child with dystonia musculorum deformans. ( 22604515 )
2012
2
Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management. ( 11598522 )
2001
3
Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans. ( 8703227 )
1996
4
Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans. ( 8416347 )
1993
5
Bilateral piriformis syndrome associated with dystonia musculorum deformans. ( 2315224 )
1990
6
Dystonia musculorum deformans: a 'critical phenomenon' model involving nigral dopaminergic and caudate pathways. ( 2179685 )
1990
7
Dystonia musculorum deformans: three cases treated on a rehabilitation unit. ( 2966619 )
1988
8
Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). ( 2456673 )
1988
9
Orthotic technique for dystonia musculorum deformans. ( 3178457 )
1988
10
Rehabilitation of communication impairment in dystonia musculorum deformans. ( 2977281 )
1987
11
Dystonia musculorum deformans in pregnancy. ( 3468383 )
1986
12
Brain neurotransmitters in dystonia musculorum deformans. ( 2426591 )
1986
13
Characteristic alterations in responses to imposed wrist displacements in parkinsonian rigidity and dystonia musculorum deformans. ( 6234055 )
1984
14
Anesthetic management of a patient with dystonia musculorum deformans. ( 6731882 )
1984
15
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. ( 6470761 )
1984
16
Treatment of dystonia musculorum deformans. ( 6694320 )
1984
17
Polysomnographic findings in dystonia musculorum deformans. ( 6622883 )
1983
18
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. ( 7092616 )
1982
19
Dystonia musculorum deformans with hyperuricaemia - study of a family. ( 6282513 )
1982
20
Catechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans. ( 7299845 )
1981
21
MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. ( 482013 )
1979
22
Polygraphic analysis of sleep in dystonia musculorum deformans. ( 227178 )
1979
23
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. ( 920302 )
1977
24
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of plaintiff's expert (a neurosurgeon)--part I. ( 916869 )
1977
25
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. ( 600061 )
1977
26
Dystonia musculorum deformans: a case study. ( 993556 )
1976
27
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. ( 941783 )
1976
28
Psychological studies in dystonia musculorum deformans. ( 941772 )
1976
29
Dystonia musculorum deformans--a status report. ( 23190 )
1976
30
Anesthetic management of a patient with dystonia musculorum deformans. ( 1130730 )
1975
31
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. ( 4474046 )
1974
32
Familial idiopathic basal ganglia calcification exhibiting &amp;quot;dystonia musculorum deformans&amp;quot; features. ( 4448193 )
1974
33
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
34
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
35
Levodopa in dystonia musculorum deformans. ( 4119748 )
1973
36
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
37
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
38
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
39
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
1970
40
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
1970
41
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms. ( 5374449 )
1969
42
Dystonia musculorum deformans: natural history and neurosurgical alleviation. ( 5767348 )
1969
43
Dystonia musculorum deformans: evidence for hereditary forms. ( 5690364 )
1968
44
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. ( 6050693 )
1967
45
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
1966
46
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
1966
47
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. ( 14059912 )
1963
48
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. ( 14070940 )
1963
49
Studies on dystonia musculorum deformans. ( 13957880 )
1962
50
Dystonia musculorum deformans. ( 14450922 )
1962

Variations for Dystonia 12

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 12:

75
# Symbol AA change Variation ID SNP ID
1 ATP1A3 p.Ile274Thr VAR_026735 rs80356532
2 ATP1A3 p.Glu277Lys VAR_026736 rs80356533
3 ATP1A3 p.Thr613Met VAR_026737 rs80356534
4 ATP1A3 p.Ile758Ser VAR_026738 rs80356535
5 ATP1A3 p.Phe780Leu VAR_026739 rs80356536
6 ATP1A3 p.Asp801Tyr VAR_026740 rs80356537
7 ATP1A3 p.Asp923Asn VAR_068949 rs267606670

ClinVar genetic disease variations for Dystonia 12:

6 (show top 50) (show all 282)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.4(ATP1A3): c.*196_*198dupCTC duplication Pathogenic rs587778772 GRCh38 Chromosome 19, 41966739: 41966741
2 ATP1A3 NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs80356534 GRCh37 Chromosome 19, 42482193: 42482193
3 ATP1A3 NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs80356534 GRCh38 Chromosome 19, 41978041: 41978041
4 ATP1A3 NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr) single nucleotide variant Pathogenic rs80356532 GRCh37 Chromosome 19, 42489242: 42489242
5 ATP1A3 NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr) single nucleotide variant Pathogenic rs80356532 GRCh38 Chromosome 19, 41985090: 41985090
6 ATP1A3 NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys) single nucleotide variant Pathogenic rs80356533 GRCh37 Chromosome 19, 42489234: 42489234
7 ATP1A3 NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys) single nucleotide variant Pathogenic rs80356533 GRCh38 Chromosome 19, 41985082: 41985082
8 ATP1A3 NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser) single nucleotide variant Pathogenic rs80356535 GRCh37 Chromosome 19, 42474685: 42474685
9 ATP1A3 NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser) single nucleotide variant Pathogenic rs80356535 GRCh38 Chromosome 19, 41970533: 41970533
10 ATP1A3 NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu) single nucleotide variant Pathogenic rs80356536 GRCh37 Chromosome 19, 42474620: 42474620
11 ATP1A3 NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu) single nucleotide variant Pathogenic rs80356536 GRCh38 Chromosome 19, 41970468: 41970468
12 ATP1A3 NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
13 ATP1A3 NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
14 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
15 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
16 ATP1A3 NM_152296.4(ATP1A3): c.*196_*198dupCTC duplication Pathogenic rs587778772 GRCh37 Chromosome 19, 42470891: 42470893
17 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
18 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
19 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh37 Chromosome 19, 42474436: 42474436
20 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh38 Chromosome 19, 41970284: 41970284
21 ATP1A3 NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro) single nucleotide variant Pathogenic rs387907282 GRCh37 Chromosome 19, 42474448: 42474448
22 ATP1A3 NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro) single nucleotide variant Pathogenic rs387907282 GRCh38 Chromosome 19, 41970296: 41970296
23 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
24 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh38 Chromosome 19, 41967744: 41967744
25 ATP1A3 NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe) single nucleotide variant Pathogenic rs397515577 GRCh37 Chromosome 19, 42480611: 42480611
26 ATP1A3 NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe) single nucleotide variant Pathogenic rs397515577 GRCh38 Chromosome 19, 41976459: 41976459
27 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
28 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh37 Chromosome 19, 42474427: 42474427
29 ATP1A3 NM_152296.4(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 GRCh37 Chromosome 19, 42485768: 42485768
30 ATP1A3 NM_152296.4(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 GRCh38 Chromosome 19, 41981616: 41981616
31 ATP1A3 NM_152296.4(ATP1A3): c.2319T> C (p.Asn773=) single nucleotide variant Benign/Likely benign rs61733017 GRCh37 Chromosome 19, 42474639: 42474639
32 ATP1A3 NM_152296.4(ATP1A3): c.2319T> C (p.Asn773=) single nucleotide variant Benign/Likely benign rs61733017 GRCh38 Chromosome 19, 41970487: 41970487
33 ATP1A3 NM_152296.4(ATP1A3): c.666T> G (p.Thr222=) single nucleotide variant Benign/Likely benign rs2217342 GRCh37 Chromosome 19, 42489516: 42489516
34 ATP1A3 NM_152296.4(ATP1A3): c.666T> G (p.Thr222=) single nucleotide variant Benign/Likely benign rs2217342 GRCh38 Chromosome 19, 41985364: 41985364
35 ATP1A3 NM_152296.4(ATP1A3): c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) duplication Pathogenic rs397515382 GRCh38 Chromosome 19, 41966939: 41966941
36 ATP1A3 NM_152296.4(ATP1A3): c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) duplication Pathogenic rs397515382 GRCh37 Chromosome 19, 42471091: 42471093
37 ATP1A3 NM_152296.4(ATP1A3): c.2767G> T (p.Asp923Tyr) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
38 ATP1A3 NM_152296.4(ATP1A3): c.2767G> T (p.Asp923Tyr) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
39 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh38 Chromosome 19, 41969523: 41969523
40 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh37 Chromosome 19, 42473675: 42473675
41 ATP1A3 NM_152296.5(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Likely pathogenic rs549006436 GRCh38 Chromosome 19, 41970389: 41970389
42 ATP1A3 NM_152296.5(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Likely pathogenic rs549006436 GRCh37 Chromosome 19, 42474541: 42474541
43 ATP1A3 NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His) single nucleotide variant Pathogenic/Likely pathogenic rs606231435 GRCh38 Chromosome 19, 41970539: 41970539
44 ATP1A3 NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His) single nucleotide variant Pathogenic/Likely pathogenic rs606231435 GRCh37 Chromosome 19, 42474691: 42474691
45 ATP1A3 NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro) single nucleotide variant Pathogenic rs606231449 GRCh38 Chromosome 19, 41981774: 41981774
46 ATP1A3 NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro) single nucleotide variant Pathogenic rs606231449 GRCh37 Chromosome 19, 42485926: 42485926
47 ATP1A3 NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg) single nucleotide variant Pathogenic rs606231448 GRCh38 Chromosome 19, 41981956: 41981956
48 ATP1A3 NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg) single nucleotide variant Pathogenic rs606231448 GRCh37 Chromosome 19, 42486108: 42486108
49 ATP1A3 NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn) single nucleotide variant Pathogenic rs573535377 GRCh38 Chromosome 19, 41981991: 41981991
50 ATP1A3 NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn) single nucleotide variant Pathogenic rs573535377 GRCh37 Chromosome 19, 42486143: 42486143

Expression for Dystonia 12

Search GEO for disease gene expression data for Dystonia 12.

Pathways for Dystonia 12

GO Terms for Dystonia 12

Cellular components related to Dystonia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.56 ATCAY CAMP GCH1 PANK2 PRKRA SGCE
2 cell projection GO:0042995 9.02 ATCAY CAMP SGCE TOR1A TUBB4A

Molecular functions related to Dystonia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinesin binding GO:0019894 8.62 ATCAY TOR1A

Sources for Dystonia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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