DYT12
MCID: DYS056
MIFTS: 51

Dystonia 12 (DYT12)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Ear diseases, Fetal 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; see these terms). 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 dystonia 3, torsion, x-linked, and has symptoms including dystonia, myoclonus and torticollis. An important gene associated with Dystonia 12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include brain and skin, and related phenotypes are emotional lability and depressivity

Disease Ontology : 12 A dystonia that affects most or all of the body.

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 all 37)
# Related Disease Score Top Affiliating Genes
1 early-onset generalized dystonia 32.7 GCH1 PRKRA THAP1 TOR1A
2 dystonia 3, torsion, x-linked 30.9 ATP1A3 GCH1 THAP1
3 dystonia 1, torsion, autosomal dominant 29.6 CAMP GCH1 SGCE TOR1A
4 dystonia 26.4 ATP1A3 GCH1 PANK2 PRKRA SGCE THAP1
5 early-onset generalized limb-onset dystonia 11.5
6 dystonia 6, torsion 11.2
7 hyperphenylalaninemia, bh4-deficient, a 11.0
8 mepan syndrome 11.0
9 dystonia 16 10.8
10 leber optic atrophy and dystonia 10.8
11 hereditary dystonia 10.8
12 dystonia 4, torsion, autosomal dominant 10.7
13 dystonia 2, torsion, autosomal recessive 10.7
14 torsion dystonia with onset in infancy 10.7
15 segawa syndrome, autosomal recessive 10.7
16 neurodegeneration with brain iron accumulation 4 10.7
17 x-linked dystonia-parkinsonism/lubag 10.7
18 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.4
19 spasmodic dysphonia 10.2 THAP1 TOR1A
20 dystonia 24 10.1 THAP1 TOR1A
21 oculogyric crisis 10.0 ATP1A3 GCH1
22 spasmodic dystonia 9.9 CAMP THAP1 TOR1A
23 thiamine metabolism dysfunction syndrome 2 9.8 GCH1 TOR1A
24 leukodystrophy, hypomyelinating, 2 9.6 GCH1 PANK2 TOR1A
25 oromandibular dystonia 9.6 CAMP GCH1 THAP1 TOR1A
26 multifocal dystonia 9.6 ATP1A3 CAMP PRKRA TOR1A
27 blepharospasm 9.6 CAMP GCH1 THAP1 TOR1A
28 cranio-facial dystonia 9.5 CAMP GCH1 THAP1 TOR1A
29 lymphedema, hereditary, ii 9.5 CAMP GCH1 THAP1 TOR1A
30 cervical dystonia 9.5 CAMP GCH1 THAP1 TOR1A
31 focal hand dystonia 9.4 CAMP PANK2 THAP1 TOR1A
32 focal dystonia 8.9 CAMP SGCE THAP1 TOR1A
33 segmental dystonia 8.9 CAMP GCH1 THAP1 TOR1A TUBB3
34 movement disease 8.5 ATP1A3 GCH1 PANK2 SGCE TOR1A
35 hemidystonia 8.3 ATP1A3 CAMP GCH1 SGCE THAP1 TOR1A
36 dystonia 11, myoclonic 8.3 ATP1A3 CAMP GCH1 SGCE THAP1 TOR1A
37 dystonia, dopa-responsive 8.3 ATP1A3 GCH1 PRKRA SGCE THAP1 TOR1A

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 emotional lability 32 HP:0000712
2 depressivity 32 HP:0000716
3 dysarthria 32 HP:0001260
4 dysphagia 32 HP:0002015
5 anxiety 32 HP:0000739
6 bradykinesia 32 HP:0002067
7 torticollis 32 HP:0000473
8 parkinsonism 32 HP:0001300
9 drooling 32 HP:0002307
10 unsteady gait 32 HP:0002317
11 hypomimic face 32 HP:0000338
12 postural instability 32 HP:0002172
13 mutism 32 HP:0002300

UMLS symptoms related to Dystonia 12:


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

MGI Mouse Phenotypes related to Dystonia 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.91 ATCAY ATP1A3 CAMP GCH1 PANK2 PRKRA
2 behavior/neurological MP:0005386 9.87 ATCAY ATP1A3 PANK2 PRKRA SGCE THAP1
3 muscle MP:0005369 9.63 TOR1A ATCAY ATP1A3 PANK2 PRKRA SGCE
4 nervous system MP:0003631 9.61 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, Skin

Publications for Dystonia 12

Articles related to Dystonia 12:

(show top 50) (show all 62)
# 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
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
33
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
34
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
35
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
36
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
37
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
1970
38
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
1970
39
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms. ( 5374449 )
1969
40
Dystonia musculorum deformans: natural history and neurosurgical alleviation. ( 5767348 )
1969
41
Dystonia musculorum deformans: evidence for hereditary forms. ( 5690364 )
1968
42
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. ( 6050693 )
1967
43
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
1966
44
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
1966
45
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. ( 14059912 )
1963
46
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. ( 14070940 )
1963
47
Studies on dystonia musculorum deformans. ( 13957880 )
1962
48
Dystonia musculorum deformans. ( 14450922 )
1962
49
Dystonia musculorum deformans: neurosurgical treatment, rehabilitation and follow-up. ( 14022841 )
1962
50
Treatment of dystonia musculorum deformans progressiva. ( 13735241 )
1961

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 240)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs80356534 GRCh37 Chromosome 19, 42482193: 42482193
2 ATP1A3 NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs80356534 GRCh38 Chromosome 19, 41978041: 41978041
3 ATP1A3 NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr) single nucleotide variant Pathogenic rs80356532 GRCh37 Chromosome 19, 42489242: 42489242
4 ATP1A3 NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr) single nucleotide variant Pathogenic rs80356532 GRCh38 Chromosome 19, 41985090: 41985090
5 ATP1A3 NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys) single nucleotide variant Pathogenic rs80356533 GRCh37 Chromosome 19, 42489234: 42489234
6 ATP1A3 NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys) single nucleotide variant Pathogenic rs80356533 GRCh38 Chromosome 19, 41985082: 41985082
7 ATP1A3 NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser) single nucleotide variant Pathogenic rs80356535 GRCh37 Chromosome 19, 42474685: 42474685
8 ATP1A3 NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser) single nucleotide variant Pathogenic rs80356535 GRCh38 Chromosome 19, 41970533: 41970533
9 ATP1A3 NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu) single nucleotide variant Pathogenic rs80356536 GRCh37 Chromosome 19, 42474620: 42474620
10 ATP1A3 NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu) single nucleotide variant Pathogenic rs80356536 GRCh38 Chromosome 19, 41970468: 41970468
11 ATP1A3 NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
12 ATP1A3 NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
13 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
14 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
15 ATP1A3 NM_152296.4(ATP1A3): c.*196_*198dupCTC duplication Pathogenic rs587778772 GRCh37 Chromosome 19, 42470891: 42470893
16 ATP1A3 NM_152296.4(ATP1A3): c.*196_*198dupCTC duplication Pathogenic rs587778772 GRCh38 Chromosome 19, 41966739: 41966741
17 ATP1A3 NM_152296.4(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
18 ATP1A3 NM_152296.4(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.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh38 Chromosome 19, 41969523: 41969523
38 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh37 Chromosome 19, 42473675: 42473675
39 ATP1A3 NM_152296.5(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Likely pathogenic rs549006436 GRCh38 Chromosome 19, 41970389: 41970389
40 ATP1A3 NM_152296.5(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Likely pathogenic rs549006436 GRCh37 Chromosome 19, 42474541: 42474541
41 ATP1A3 NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His) single nucleotide variant Pathogenic/Likely pathogenic rs606231435 GRCh38 Chromosome 19, 41970539: 41970539
42 ATP1A3 NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His) single nucleotide variant Pathogenic/Likely pathogenic rs606231435 GRCh37 Chromosome 19, 42474691: 42474691
43 ATP1A3 NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro) single nucleotide variant Pathogenic rs606231449 GRCh38 Chromosome 19, 41981774: 41981774
44 ATP1A3 NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro) single nucleotide variant Pathogenic rs606231449 GRCh37 Chromosome 19, 42485926: 42485926
45 ATP1A3 NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg) single nucleotide variant Pathogenic rs606231448 GRCh38 Chromosome 19, 41981956: 41981956
46 ATP1A3 NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg) single nucleotide variant Pathogenic rs606231448 GRCh37 Chromosome 19, 42486108: 42486108
47 ATP1A3 NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn) single nucleotide variant Pathogenic rs573535377 GRCh38 Chromosome 19, 41981991: 41981991
48 ATP1A3 NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn) single nucleotide variant Pathogenic rs573535377 GRCh37 Chromosome 19, 42486143: 42486143
49 ATP1A3 NM_152296.4(ATP1A3): c.979_981delCTG (p.Leu327del) deletion Pathogenic rs397515578 GRCh38 Chromosome 19, 41984930: 41984932
50 ATP1A3 NM_152296.4(ATP1A3): c.979_981delCTG (p.Leu327del) deletion Pathogenic rs397515578 GRCh37 Chromosome 19, 42489082: 42489084

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 cell projection GO:0042995 9.26 ATCAY CAMP SGCE TOR1A
2 axon GO:0030424 8.8 ATCAY ATP1A3 TUBB3

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
35 ICD9CM
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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