DRD
MCID: DYS192
MIFTS: 52

Dystonia, Dopa-Responsive (DRD)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia, Dopa-Responsive

MalaCards integrated aliases for Dystonia, Dopa-Responsive:

Name: Dystonia, Dopa-Responsive 58 76 30 6
Dystonia 5 58 12 54 76 56 15
Dystonia-Parkinsonism with Diurnal Fluctuation 58 54 76
Dystonia 5, Dopa-Responsive Type 26 30 6
Dopa-Responsive Dystonia 54 26 74
Dyt5 58 54 76
Drd 58 26 76
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia 58 13
Dystonia, Progressive, with Diurnal Variation 58 54
Hereditary Progressive Dystonia with Marked Diurnal Fluctuation 26
Hereditary Progressive Dystonia with Diurnal Fluctuation 54
Dystonia, Dopa-Responsive, Autosomal Dominant 58
Progressive Dystonia with Diurnal Fluctuation 76
Dopa-Responsive Dystonia, Autosomal Dominant 58
Autosomal Dominant Dopa-Responsive Dystonia 76
Dystonia, Type 5, Dopa-Responsive Type 41
Segawa Syndrome, Autosomal Dominant 58
Autosomal Dominant Segawa Syndrome 76
Hpd with Diurnal Fluctuation 54
Dystonia 5; Dyt5 58
Dystonia-5 76
Dyt-Gch1 54
Dyt-Spr 54
Dyt-Th 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
autosomal recessive (rare)

Miscellaneous:
genetic heterogeneity (see )
onset in childhood (6-7 years)
defect in tetrahydrobiopterin (bh4) synthesis
favorable response to l-dopa without side effects
favorable response to bh4
diurnal fluctuation, more apparent in earlier years, later subsides
symptoms worsen with fatigue and exercise
age-related clinical course
female predominance (4:1)
clinical heterogeneity
autosomal recessive inheritance with earlier onset has been reported in 3 patients
see also autosomal recessive bh4-dependent hyperphenylalaninemia , an allelic disorder with a more severe phenotype


HPO:

33
dystonia, dopa-responsive:
Onset and clinical course childhood onset
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Dystonia, Dopa-Responsive

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 255Disease definitionDopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.EpidemiologyThe estimated European prevalence of DRD ranges from 1/1,000,000-1/200,000.Clinical descriptionDRD usually has a pediatric onset, typically with lower limb dystonia that leads to gait disturbances and that usually worsens during the course of the day and is improved in the morning after sleeping. Parkinsonism can develop at a later age in some patients. Anxiety, depression, sleep disturbances and obsessive-compulsive disorders have also been reported in a few patients with DYT5a. Rarer subtypes which are inherited in an autosomal recessive manner typically show a much more severe phenotype, with onset in the first year of life with additional manifestations of global developmental delay, axial hypotonia, oculogyric crises and encephalopathy. DRD responds dramatically and continuously to L-dopa therapy, and patients usually experience a significant improvement of symptoms once treatment is initiated. If untreated, patients can become wheelchair bound.EtiologyDRD is due to mutations in genes that encode proteins essential for the biosynthesis of dopamine. DYT5a is due to mutations in the GTP cyclohydrolase 1 (GCH1) gene (14q22.1 to q22.2) which encodes an enzyme needed for the biosynthesis of tetrahydrobiopterin, the essential co-factor for tyrosine hydroxylase. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5) encoding tyrosine hydroxylase, the enzyme responsible for catalyzing the conversion of tyrosine to L-dopa, the precursor of dopamine. Finally, DRD due to an SRD is due to mutations in the SPR gene (2p14-p12), encoding the enzyme sepiapterin reductase (SR), which is also required for the biosynthesis of tetrahydrobiopterin.Genetic counselingDRD can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype. It can also occur due to de novo mutations.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia, Dopa-Responsive, also known as dystonia 5, is related to dystonia, dopa-responsive, due to sepiapterin reductase deficiency and segawa syndrome, autosomal recessive, and has symptoms including gait ataxia, torticollis and dystonia, diurnal. An important gene associated with Dystonia, Dopa-Responsive is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Alpha-synuclein signaling and Dopaminergic Neurogenesis. The drug Dihydroxyphenylalanine has been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are spasticity and gait disturbance

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has material basis in heterozygous mutation in the GCH1 gene on chromosome 14q13.

Genetics Home Reference : 26 Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa.

UniProtKB/Swiss-Prot : 76 Dystonia, dopa-responsive: A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise.

Description from OMIM: 128230

Related Diseases for Dystonia, Dopa-Responsive

Diseases related to Dystonia, Dopa-Responsive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 34.5 GCH1 SPR
2 segawa syndrome, autosomal recessive 33.5 GCH1 TH
3 dystonia 12 30.9 ATP1A3 GCH1 PRKRA SGCE THAP1 TOR1A
4 hyperphenylalaninemia 30.4 GCH1 SPR TH
5 dystonia 11, myoclonic 30.3 ATP1A3 GCH1 SGCE SLC2A1 TH THAP1
6 hyperphenylalaninemia, bh4-deficient, b 30.3 GCH1 TH
7 choreatic disease 30.1 PNKD PRRT2
8 parkinson disease, late-onset 29.9 GCH1 SLC6A3 SPR TH
9 dystonia 27.9 ATP1A3 GCH1 PNKD PRKRA PRRT2 SGCE
10 dyt/park-gch1 11.4
11 x-linked dystonia-parkinsonism/lubag 11.4
12 hyperphenylalaninemia, bh4-deficient, a 11.2
13 cerebral palsy 10.3
14 familial paroxysmal nonkinesigenic dyskinesia 10.2 PNKD PRRT2
15 episodic kinesigenic dyskinesia 2 10.2 PNKD PRRT2
16 gilles de la tourette syndrome 10.2
17 scoliosis 10.2
18 early-onset parkinson's disease 10.2
19 hereditary dystonia 10.2 GCH1 TH
20 multiple system atrophy 1 10.1
21 spasmodic dysphonia 10.1 THAP1 TOR1A
22 episodic kinesigenic dyskinesia 1 10.1 PNKD PRRT2
23 schizophrenia 10.1
24 stuttering 10.1
25 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.1
26 tetrahydrobiopterin deficiency 10.1 GCH1 SPR TH
27 spasmodic dystonia 10.1 THAP1 TOR1A
28 ataxia-telangiectasia 10.0
29 tardive dyskinesia 10.0
30 ataxia and polyneuropathy, adult-onset 10.0
31 aging 10.0
32 neuronal intranuclear inclusion disease 10.0
33 spastic paraplegia 11, autosomal recessive 10.0
34 parkinson disease 14, autosomal recessive 10.0
35 telangiectasis 10.0
36 autosomal dominant cerebellar ataxia 10.0
37 neuroleptic malignant syndrome 10.0
38 paraplegia 10.0
39 growth hormone deficiency 10.0
40 nbia/dyt/park-pla2g6 10.0
41 hypotonia 10.0
42 tremor 10.0
43 thiamine metabolism dysfunction syndrome 2 10.0 GCH1 TOR1A
44 dystonia 24 10.0 THAP1 TOR1A
45 oromandibular dystonia 10.0 GCH1 THAP1 TOR1A
46 segmental dystonia 10.0 GCH1 THAP1 TOR1A
47 blepharospasm 10.0 GCH1 THAP1 TOR1A
48 cervical dystonia 10.0 GCH1 THAP1 TOR1A
49 multifocal dystonia 10.0 ATP1A3 PRKRA TOR1A
50 focal hand dystonia 10.0 THAP1 TOR1A

Graphical network of the top 20 diseases related to Dystonia, Dopa-Responsive:



Diseases related to Dystonia, Dopa-Responsive

Symptoms & Phenotypes for Dystonia, Dopa-Responsive

Human phenotypes related to Dystonia, Dopa-Responsive:

33 (show all 35)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 hallmark (90%) HP:0001257
2 gait disturbance 33 hallmark (90%) HP:0001288
3 depressivity 33 frequent (33%) HP:0000716
4 sleep disturbance 33 frequent (33%) HP:0002360
5 hearing impairment 33 frequent (33%) HP:0000365
6 fatigue 33 frequent (33%) HP:0012378
7 anxiety 33 frequent (33%) HP:0000739
8 gait ataxia 33 frequent (33%) HP:0002066
9 babinski sign 33 frequent (33%) HP:0003487
10 pes cavus 33 frequent (33%) HP:0001761
11 talipes equinovarus 33 frequent (33%) HP:0001762
12 rigidity 33 frequent (33%) HP:0002063
13 postural tremor 33 frequent (33%) HP:0002174
14 torticollis 33 frequent (33%) HP:0000473
15 brisk reflexes 33 frequent (33%) HP:0001348
16 lower limb hyperreflexia 33 frequent (33%) HP:0002395
17 parkinsonism 33 frequent (33%) HP:0001300
18 limb dystonia 33 frequent (33%) HP:0002451
19 abnormality of the substantia nigra 33 frequent (33%) HP:0045007
20 decreased csf homovanillic acid 33 frequent (33%) HP:0003785
21 transient hyperphenylalaninemia 33 frequent (33%) HP:0008297
22 hypothyroidism 33 occasional (7.5%) HP:0000821
23 hypertension 33 occasional (7.5%) HP:0000822
24 scoliosis 33 occasional (7.5%) HP:0002650
25 obsessive-compulsive behavior 33 occasional (7.5%) HP:0000722
26 horizontal nystagmus 33 occasional (7.5%) HP:0000666
27 bradykinesia 33 occasional (7.5%) HP:0002067
28 impaired vibration sensation in the lower limbs 33 occasional (7.5%) HP:0002166
29 generalized dystonia 33 occasional (7.5%) HP:0007325
30 rheumatoid arthritis 33 occasional (7.5%) HP:0001370
31 progressive flexion contractures 33 occasional (7.5%) HP:0005876
32 paresis of extensor muscles of the big toe 33 occasional (7.5%) HP:0002601
33 hyperreflexia 33 HP:0001347
34 writer's cramp 33 HP:0002356
35 parkinsonism with favorable response to dopaminergic medication 33 HP:0002548

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
gait ataxia
parkinsonism
extensor plantar responses
gait abnormalities
more
Head And Neck Neck:
torticollis

Laboratory Abnormalities:
decreased tetrahydrobiopterin (bh4) in csf
decreased homovanillic acid (hva) in csf
5-hiaa csf may be normal or decreased
decreased gtp cyclohydrolase i activity (about 20% of normal)
transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

Skeletal Limbs:
pes cavus
talipes equinovarus

Skeletal Spine:
scoliosis (rare)

Clinical features from OMIM:

128230

UMLS symptoms related to Dystonia, Dopa-Responsive:


gait ataxia, torticollis, dystonia, diurnal

GenomeRNAi Phenotypes related to Dystonia, Dopa-Responsive according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.23 PRKRA SPR TAF1 TAF1L TH
2 Decreased homologous recombination repair frequency GR00236-A-2 9.23 TAF1 TAF1L TH

MGI Mouse Phenotypes related to Dystonia, Dopa-Responsive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ATP1A3 PNKD PRKRA PRRT2 SGCE SLC2A1
2 nervous system MP:0003631 9.4 ATP1A3 GCH1 PNKD PRKRA PRRT2 SGCE

Drugs & Therapeutics for Dystonia, Dopa-Responsive

Drugs for Dystonia, Dopa-Responsive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dihydroxyphenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
2 Research of Biomarkers in Parkinson Disease Completed NCT00465790
3 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Dystonia, Dopa-Responsive

Genetic Tests for Dystonia, Dopa-Responsive

Genetic tests related to Dystonia, Dopa-Responsive:

# Genetic test Affiliating Genes
1 Dystonia 5, Dopa-Responsive Type 30 GCH1
2 Dystonia, Dopa-Responsive 30

Anatomical Context for Dystonia, Dopa-Responsive

MalaCards organs/tissues related to Dystonia, Dopa-Responsive:

42
Testes, Brain

Publications for Dystonia, Dopa-Responsive

Articles related to Dystonia, Dopa-Responsive:

(show all 18)
# Title Authors Year
1
Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. ( 23123071 )
2012
2
EFNS guidelines on diagnosis and treatment of primary dystonias. ( 20482602 )
2011
3
Novel human pathological mutations. Gene symbol: GCH1. Disease: dystonia, dopa-responsive. ( 21488304 )
2010
4
Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). ( 19292934 )
2009
5
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia. ( 17111153 )
2007
6
A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia. ( 15165667 )
2004
7
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. ( 12391354 )
2002
8
A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. ( 11359069 )
2001
9
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. ( 11486899 )
2001
10
Dopa-responsive dystonia is induced by a dominant-negative mechanism. ( 11026444 )
2000
11
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. ( 10208576 )
1999
12
GCH1 mutation in a patient with adult-onset oromandibular dystonia. ( 10078749 )
1999
13
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. ( 9667588 )
1998
14
A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia. ( 9484387 )
1998
15
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene. ( 9576537 )
1998
16
Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion. ( 10732814 )
1997
17
Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia. ( 7544125 )
1995
18
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. ( 7730309 )
1995

Variations for Dystonia, Dopa-Responsive

UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Dopa-Responsive:

76 (show all 33)
# Symbol AA change Variation ID SNP ID
1 GCH1 p.Pro23Leu VAR_002633 rs41298432
2 GCH1 p.Leu79Pro VAR_002634
3 GCH1 p.Arg88Pro VAR_002635
4 GCH1 p.Arg88Trp VAR_002636 rs104894433
5 GCH1 p.Met102Lys VAR_002637
6 GCH1 p.Asp134Val VAR_002638 rs104894437
7 GCH1 p.Cys141Trp VAR_002639
8 GCH1 p.His144Pro VAR_002640 rs104894440
9 GCH1 p.His153Pro VAR_002641
10 GCH1 p.Arg178Ser VAR_002642
11 GCH1 p.Thr186Lys VAR_002644
12 GCH1 p.Gly201Glu VAR_002645 rs104894438
13 GCH1 p.Gly203Arg VAR_002646 rs988395114
14 GCH1 p.Lys224Arg VAR_002648 rs41298442
15 GCH1 p.Phe234Ser VAR_002649
16 GCH1 p.Leu71Gln VAR_016888
17 GCH1 p.Ala74Val VAR_016889
18 GCH1 p.Gly83Ala VAR_016890
19 GCH1 p.Gly90Val VAR_016892
20 GCH1 p.Met102Arg VAR_016893
21 GCH1 p.Asp115Asn VAR_016895
22 GCH1 p.Ile135Lys VAR_016896 rs104894441
23 GCH1 p.Cys141Arg VAR_016897
24 GCH1 p.Leu163Arg VAR_016898
25 GCH1 p.Ser176Thr VAR_016899
26 GCH1 p.Gln180Arg VAR_016900
27 GCH1 p.Val191Ile VAR_016901 rs762208304
28 GCH1 p.Pro199Leu VAR_016902
29 GCH1 p.Met211Val VAR_016903
30 GCH1 p.Met213Val VAR_016904 rs134856249
31 GCH1 p.Arg241Trp VAR_016906 rs137520979
32 GCH1 p.Arg249Ser VAR_016907 rs104894442
33 GCH1 p.Thr106Ile VAR_054112

ClinVar genetic disease variations for Dystonia, Dopa-Responsive:

6 (show top 50) (show all 206)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCH1 NM_000161.2(GCH1): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs104894433 GRCh37 Chromosome 14, 55369120: 55369120
2 GCH1 NM_000161.2(GCH1): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs104894433 GRCh38 Chromosome 14, 54902402: 54902402
3 GCH1 NM_000161.2(GCH1): c.401A> T (p.Asp134Val) single nucleotide variant Pathogenic rs104894437 GRCh37 Chromosome 14, 55332097: 55332097
4 GCH1 NM_000161.2(GCH1): c.401A> T (p.Asp134Val) single nucleotide variant Pathogenic rs104894437 GRCh38 Chromosome 14, 54865379: 54865379
5 GCH1 GCH1, 2-BP INS insertion Pathogenic
6 GCH1 NM_000161.2(GCH1): c.602G> A (p.Gly201Glu) single nucleotide variant Pathogenic rs104894438 GRCh37 Chromosome 14, 55312510: 55312510
7 GCH1 NM_000161.2(GCH1): c.602G> A (p.Gly201Glu) single nucleotide variant Pathogenic rs104894438 GRCh38 Chromosome 14, 54845792: 54845792
8 GCH1 GCH1, IVS1, A-G, -2 single nucleotide variant Pathogenic
9 GCH1 GCH1, IVS2, A-G, -2 single nucleotide variant Pathogenic
10 GCH1 NM_000161.2(GCH1): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs104894439 GRCh37 Chromosome 14, 55369379: 55369379
11 GCH1 NM_000161.2(GCH1): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs104894439 GRCh38 Chromosome 14, 54902661: 54902661
12 GCH1 NM_000161.2(GCH1): c.431A> C (p.His144Pro) single nucleotide variant Pathogenic rs104894440 GRCh37 Chromosome 14, 55332067: 55332067
13 GCH1 NM_000161.2(GCH1): c.431A> C (p.His144Pro) single nucleotide variant Pathogenic rs104894440 GRCh38 Chromosome 14, 54865349: 54865349
14 GCH1 GCH1, IVS2, G-C, +1 single nucleotide variant Pathogenic
15 GCH1 NM_000161.2(GCH1): c.323G> A (p.Gly108Asp) single nucleotide variant Likely pathogenic rs104894435 GRCh37 Chromosome 14, 55369059: 55369059
16 GCH1 NM_000161.2(GCH1): c.323G> A (p.Gly108Asp) single nucleotide variant Likely pathogenic rs104894435 GRCh38 Chromosome 14, 54902341: 54902341
17 GCH1 NM_000161.2(GCH1): c.671A> G (p.Lys224Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41298442 GRCh37 Chromosome 14, 55310817: 55310817
18 GCH1 NM_000161.2(GCH1): c.671A> G (p.Lys224Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41298442 GRCh38 Chromosome 14, 54844099: 54844099
19 GCH1 NM_000161.2(GCH1): c.586G> T (p.Ala196Ser) single nucleotide variant Pathogenic rs104894436 GRCh37 Chromosome 14, 55312526: 55312526
20 GCH1 NM_000161.2(GCH1): c.586G> T (p.Ala196Ser) single nucleotide variant Pathogenic rs104894436 GRCh38 Chromosome 14, 54845808: 54845808
21 GCH1 NM_000161.2(GCH1): c.404T> A (p.Ile135Lys) single nucleotide variant Pathogenic rs104894441 GRCh37 Chromosome 14, 55332094: 55332094
22 GCH1 NM_000161.2(GCH1): c.404T> A (p.Ile135Lys) single nucleotide variant Pathogenic rs104894441 GRCh38 Chromosome 14, 54865376: 54865376
23 GCH1 NM_000161.2(GCH1): c.142C> T (p.Gln48Ter) single nucleotide variant Pathogenic rs104894444 GRCh37 Chromosome 14, 55369240: 55369240
24 GCH1 NM_000161.2(GCH1): c.142C> T (p.Gln48Ter) single nucleotide variant Pathogenic rs104894444 GRCh38 Chromosome 14, 54902522: 54902522
25 GCH1 GCH1, IVS5, G-A, +1 single nucleotide variant Pathogenic
26 GCH1 GCH1, DEL deletion Pathogenic
27 GCH1 NM_000161.2(GCH1): c.610G> A (p.Val204Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200891969 GRCh37 Chromosome 14, 55312502: 55312502
28 GCH1 NM_000161.2(GCH1): c.610G> A (p.Val204Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200891969 GRCh38 Chromosome 14, 54845784: 54845784
29 GCH1 NM_000161.2(GCH1): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs56127440 GRCh37 Chromosome 14, 55369176: 55369176
30 GCH1 NM_000161.2(GCH1): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs56127440 GRCh38 Chromosome 14, 54902458: 54902458
31 GCH1 NM_000161.2(GCH1): c.-40C> T single nucleotide variant Benign rs28458175 GRCh37 Chromosome 14, 55369421: 55369421
32 GCH1 NM_000161.2(GCH1): c.-40C> T single nucleotide variant Benign rs28458175 GRCh38 Chromosome 14, 54902703: 54902703
33 SPR NM_003124.4(SPR): c.369C> T (p.Tyr123=) single nucleotide variant Conflicting interpretations of pathogenicity rs146349901 GRCh38 Chromosome 2, 72888378: 72888378
34 SPR NM_003124.4(SPR): c.369C> T (p.Tyr123=) single nucleotide variant Conflicting interpretations of pathogenicity rs146349901 GRCh37 Chromosome 2, 73115507: 73115507
35 SPR NM_003124.4(SPR): c.*308C> T single nucleotide variant Uncertain significance rs886056288 GRCh38 Chromosome 2, 72891845: 72891845
36 SPR NM_003124.4(SPR): c.*308C> T single nucleotide variant Uncertain significance rs886056288 GRCh37 Chromosome 2, 73118974: 73118974
37 SPR NM_003124.4(SPR): c.*321G> C single nucleotide variant Uncertain significance rs527829365 GRCh38 Chromosome 2, 72891858: 72891858
38 SPR NM_003124.4(SPR): c.*321G> C single nucleotide variant Uncertain significance rs527829365 GRCh37 Chromosome 2, 73118987: 73118987
39 SPR NM_003124.4(SPR): c.*400C> T single nucleotide variant Uncertain significance rs886056289 GRCh38 Chromosome 2, 72891937: 72891937
40 SPR NM_003124.4(SPR): c.*400C> T single nucleotide variant Uncertain significance rs886056289 GRCh37 Chromosome 2, 73119066: 73119066
41 SPR NM_003124.4(SPR): c.*410C> G single nucleotide variant Uncertain significance rs886056290 GRCh38 Chromosome 2, 72891947: 72891947
42 SPR NM_003124.4(SPR): c.*410C> G single nucleotide variant Uncertain significance rs886056290 GRCh37 Chromosome 2, 73119076: 73119076
43 SPR NM_003124.4(SPR): c.-7C> G single nucleotide variant Likely benign rs184034436 GRCh38 Chromosome 2, 72887426: 72887426
44 SPR NM_003124.4(SPR): c.-7C> G single nucleotide variant Likely benign rs184034436 GRCh37 Chromosome 2, 73114555: 73114555
45 SPR NM_003124.4(SPR): c.-40C> G single nucleotide variant Uncertain significance rs886056286 GRCh38 Chromosome 2, 72887393: 72887393
46 SPR NM_003124.4(SPR): c.-40C> G single nucleotide variant Uncertain significance rs886056286 GRCh37 Chromosome 2, 73114522: 73114522
47 SPR NM_003124.4(SPR): c.115C> T (p.Leu39Phe) single nucleotide variant Uncertain significance rs777872233 GRCh38 Chromosome 2, 72887547: 72887547
48 SPR NM_003124.4(SPR): c.115C> T (p.Leu39Phe) single nucleotide variant Uncertain significance rs777872233 GRCh37 Chromosome 2, 73114676: 73114676
49 SPR NM_003124.4(SPR): c.380A> G (p.Asn127Ser) single nucleotide variant Uncertain significance rs755878397 GRCh38 Chromosome 2, 72888389: 72888389
50 SPR NM_003124.4(SPR): c.380A> G (p.Asn127Ser) single nucleotide variant Uncertain significance rs755878397 GRCh37 Chromosome 2, 73115518: 73115518

Expression for Dystonia, Dopa-Responsive

Search GEO for disease gene expression data for Dystonia, Dopa-Responsive.

Pathways for Dystonia, Dopa-Responsive

Pathways related to Dystonia, Dopa-Responsive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 SLC6A3 TH TOR1A
2 10.63 SLC6A3 TH
3
Show member pathways
10.26 GCH1 SPR TH

GO Terms for Dystonia, Dopa-Responsive

Cellular components related to Dystonia, Dopa-Responsive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 9.13 PRRT2 TH TOR1A
2 axon GO:0030424 8.92 ATP1A3 PRRT2 SLC6A3 TH

Biological processes related to Dystonia, Dopa-Responsive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter biosynthetic process GO:0042136 9.4 SLC6A3 TH
2 nitric oxide biosynthetic process GO:0006809 9.37 GCH1 SPR
3 cofactor metabolic process GO:0051186 9.32 GCH1 SPR
4 regulation of dopamine metabolic process GO:0042053 9.26 PNKD SLC6A3
5 tetrahydrobiopterin biosynthetic process GO:0006729 9.16 GCH1 SPR
6 RNA polymerase II preinitiation complex assembly GO:0051123 9.13 TAF1
7 neuromuscular process controlling posture GO:0050884 9.13 GCH1 PNKD PRRT2
8 dopamine biosynthetic process GO:0042416 8.8 GCH1 SLC6A3 TH

Molecular functions related to Dystonia, Dopa-Responsive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TBP-class protein binding GO:0017025 9.26 TAF1 TAF1L
2 lysine-acetylated histone binding GO:0070577 9.16 TAF1 TAF1L
3 dopamine binding GO:0035240 8.96 SLC6A3 TH
4 steroid hormone binding GO:1990239 8.62 ATP1A3 SULT2B1

Sources for Dystonia, Dopa-Responsive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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