DRDSPRD
MCID: DYS161
MIFTS: 56

Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (DRDSPRD)

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

Aliases & Classifications for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MalaCards integrated aliases for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Name: Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 57 73 13 44 71
Sepiapterin Reductase Deficiency 57 12 25 20 43 58 73 15 39
Spr Deficiency 57 12 25 20 43 58 73
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 12 20 43 58 29 6
Psychomotor Disorders 44 71
Drd Due to Srd 12 58
Srd 57 12
Motor and Cognitive Disorder Due to Sepiapterin Reductase Deficiency 73
Autosomal Recessive Sepiapterin Reductase-Deficient Drd 58
Sepiapterin Reductase Deficiency; Srd 57
Dopa-Responsive Hypersomnia 25
Sr-Deficient Drd 20
Dyt/park-Spr 20
Dyt-Spr 25
Drdsprd 73
Spr 74

Characteristics:

Orphanet epidemiological data:

58
dopa-responsive dystonia due to sepiapterin reductase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
?autosomal dominant

Miscellaneous:
onset in infancy
variable severity
defect in tetrahydrobiopterin (bh4) synthesis
later onset has been reported
treatment with bh4 is effective
neurotransmitter treatment with l-dopa and serotonin or precursors is effective
early treatment can reduce neurologic symptoms
symptoms benefit from sleep
marked favorable response to l-dopa treatment
a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient


HPO:

31
dystonia, dopa-responsive, due to sepiapterin reductase deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MedlinePlus Genetics : 43 Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin reductase deficiency can experience episodes called oculogyric crises. These episodes involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as sitting and crawling, and they typically are not able to walk unassisted. The problems with movement tend to worsen over time.People with sepiapterin reductase deficiency may have additional signs and symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings.

MalaCards based summary : Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency, also known as sepiapterin reductase deficiency, is related to dystonia, dopa-responsive and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including seizures, ataxia and tremor. An important gene associated with Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency is SPR (Sepiapterin Reductase), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Alprazolam and Diphenhydramine have been mentioned in the context of this disorder. Affiliated tissues include thyroid and brain, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has material basis in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.

GARD : 20 Sepiapterin reductase deficiency is a neurometabolic disorder characterized by a pattern of involuntary sustained muscle contractions known as dystonia. Other common features include axial hypotonia , oculogyric crises, and delays in motor and cognitive development. The condition is caused by mutations in the SPR gene. It is inherited in an autosomal recessive fashion. Treatment with levodopa (L-dopa) in combination with carbidopa has shown much success causing drastic improvements in motor functioning.

OMIM® : 57 SPR deficiency results in neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Clinically, affected individuals show an L-DOPA-responsive, diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction. BH4 is a required cofactor for the synthesis of the neurotransmitters dopamine and serotonin. BH4 is also a required cofactor for phenylalanine hydroxylase (PAH; 612349), but patients with SPR deficiency do not exhibit overt hyperphenylalaninemia. The lack of hyperphenylalaninemia distinguishes SPR deficiency from other disorders of BH4 synthesis (see, e.g., HPABH4A, 261640). However, the neurologic phenotype of SPR deficiency resembles the other BH4-deficient disorders (summary by Bonafe et al., 2001 and Friedman et al., 2012). Another form of dopa-responsive dystonia (DTY5; 128230) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225), which is also a component of the biopterin synthetic pathway. (612716) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.

GeneReviews: NBK304122

Related Diseases for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive 32.5 SPR GCH1
2 hyperphenylalaninemia, bh4-deficient, a 31.6 SPR QDPR PCBD1 GCH1
3 pyridoxamine 5-prime-phosphate oxidase deficiency 31.6 SPR QDPR
4 hemidystonia 31.5 SPR GCH1
5 multifocal dystonia 31.5 SPR GCH1
6 aromatic l-amino acid decarboxylase deficiency 31.3 SPR QDPR GCH1
7 tetrahydrobiopterin deficiency 31.1 SPR QDPR PCBD1 GCH1
8 dystonia 30.4 SPR QDPR PCBD1 MCEE GCH1
9 movement disease 30.3 SPR PRODH GCH1
10 oculogyric crisis 30.2 SPR PRODH GCH1
11 hyperphenylalaninemia 30.2 SPR QDPR PCBD1 GCH1
12 phenylketonuria 30.1 QDPR PRODH PCBD1 GCH1
13 cervical dystonia 11.0
14 disease of mental health 10.9
15 hypotonia 10.5
16 segawa syndrome, autosomal recessive 10.4
17 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.3
18 retinal detachment 10.2
19 alacrima, achalasia, and mental retardation syndrome 10.2
20 autosomal recessive disease 10.2
21 cerebral palsy 10.2
22 spasticity 10.2
23 tremor 10.2
24 mild hyperphenylalaninemia 10.2 QDPR PCBD1
25 cystathioninuria 10.1 PRODH PCBD1
26 prion disease 10.1
27 hyperphenylalaninemia, bh4-deficient, b 10.1 QDPR GCH1
28 glutathione synthetase deficiency 10.1 QDPR PRODH
29 parkinson disease, late-onset 10.1
30 methylmalonyl-coa epimerase deficiency 10.1
31 adrenoleukodystrophy 10.1
32 parkinson disease 3, autosomal dominant 10.1
33 chorea, childhood-onset, with psychomotor retardation 10.1
34 parkinsonism 10.1
35 quadriplegia 10.1
36 choreatic disease 10.1
37 hypothyroidism 10.1
38 methylmalonic acidemia 10.1
39 adrenomyeloneuropathy 10.1
40 dwarfism 10.1
41 growth hormone deficiency 10.1
42 autonomic dysfunction 10.1
43 encephalopathy 10.1
44 hypersomnia 10.1
45 hypertonia 10.1
46 thiamine metabolism dysfunction syndrome 2 10.0 QDPR GCH1
47 kala-azar 1 10.0
48 avian influenza 10.0
49 influenza 10.0
50 leishmaniasis 10.0

Graphical network of the top 20 diseases related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:



Diseases related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency

Symptoms & Phenotypes for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Human phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
4 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
5 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
6 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
7 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
8 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
9 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 abnormality of the nose 58 31 frequent (33%) Frequent (79-30%) HP:0000366
12 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
13 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
14 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
15 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
16 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
17 temperature instability 58 31 frequent (33%) Frequent (79-30%) HP:0005968
18 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
19 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
20 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
21 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
22 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
23 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
24 seizure 31 occasional (7.5%) HP:0001250
25 dystonia 58 31 Frequent (79-30%) HP:0001332
26 seizures 58 Occasional (29-5%)
27 spasticity 31 HP:0001257
28 ataxia 31 HP:0001251
29 dysarthria 31 HP:0001260
30 global developmental delay 31 HP:0001263
31 behavioral abnormality 58 Frequent (79-30%)
32 choreoathetosis 31 HP:0001266
33 oculomotor apraxia 31 HP:0000657
34 aggressive behavior 31 HP:0000718
35 hyperactivity 31 HP:0000752
36 transient hyperphenylalaninemia 31 HP:0008297

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
tremor
more
Head And Neck Eyes:
oculomotor apraxia
oculogyric crises

Growth Other:
growth retardation

Head And Neck Head:
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity

Laboratory Abnormalities:
decreased homovanillic acid (hva) in csf
transient hyperphenylalaninemia occurs on oral loading test with phenylalanine
sepiapterin reductase deficiency (fibroblasts)
decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf
elevated sepiapterin in csf
more

Clinical features from OMIM®:

612716 (Updated 05-Mar-2021)

UMLS symptoms related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:


seizures, ataxia, tremor, dystonia, lethargy, sleep disturbances, muscle spasticity, neurobehavioral manifestations, psychomotor skills impaired, hypersomnolence

GenomeRNAi Phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.47 QDPR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.47 U2AF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.47 QDPR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.47 PRODH QDPR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.47 PRODH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.47 PRODH
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.47 PRODH
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.47 PRODH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.47 PRODH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.47 PRODH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.47 PRODH
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.47 QDPR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.47 PRODH

MGI Mouse Phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 CASZ1 CHD5 DHRS7C GCH1 GMDS INSIG1
2 liver/biliary system MP:0005370 9.17 CASZ1 GCH1 INSIG1 INSIG2 MBTPS1 SCAP

Drugs & Therapeutics for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Drugs for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alprazolam Approved, Illicit, Investigational Phase 4 28981-97-7 2118
2
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
3
Zolpidem Approved Phase 4 82626-48-0 5732
4
Promethazine Approved, Investigational Phase 4 60-87-7 4927
5 Hypnotics and Sedatives Phase 4
6 GABA Modulators Phase 4
7 Psychotropic Drugs Phase 4
8 GABA Agonists Phase 4
9 Neurotransmitter Agents Phase 4
10 Anti-Anxiety Agents Phase 4
11 Pharmaceutical Solutions Phase 4
12 Olive Phase 4
13 Soybean oil, phospholipid emulsion Phase 4
14 Soy Bean Phase 4
15 Parenteral Nutrition Solutions Phase 4
16 Fat Emulsions, Intravenous Phase 4
17 Hematinics Phase 2
18 Epoetin alfa Phase 2 113427-24-0
19
Ethanol Approved 64-17-5 702
20
Dronabinol Approved, Illicit 1972-08-3 16078
21
Iodine Approved, Investigational 7553-56-2 807
22
Cadexomer iodine Experimental 94820-09-4
23 Hallucinogens
24 Analgesics, Non-Narcotic
25 Hormone Antagonists
26 Analgesics
27 Anti-Infective Agents Early Phase 1
28 Anti-Infective Agents, Local Early Phase 1
29 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Alprazolam and Simulated Driving Performance: Next Day Effects Completed NCT03297944 Phase 4 Alprazolam 2mg (2ALP/PLC);Alprazolam 1mg (1ALP/PLC);Alprazolam 0.5mg (0.5ALP/PLC);Zolpidem 10mg (ZOL/PLC);Placebo (PLC/PLC);Alprazolam 1mg (PLC/ALC)
2 Preventing Cholestasis in Premature Infants Using SMOFLipid® Completed NCT01585935 Phase 4 SMOFLIPID;INTRALIPID
3 Neuroprotective Effect of High Dose Erythropoietin in Very Preterm Infants Completed NCT00413946 Phase 2 Recombinant human Erythropoietin;saline
4 Acute and Residual Effects of Alcohol on Young Drivers' Performance of Driving Related Skills Completed NCT02710578 Alcohol;Placebo
5 Acute and Residual Effects of Cannabis on Young Drivers' Performance of Driving-related Skills Completed NCT01592409 delta-9-tetrahydrocannabinol;Placebo
6 Effects of Combined Alcohol and Cannabis on Young Drivers' Simulated Driving Completed NCT03106363 Early Phase 1 delta 9 tetrahydrocannabinol;placebo delta 9 tetrahydrocannabinol;Alcohol;Placebo alcohol
7 Correlation Between Neonatal Cerebral Oxygenation and Later Psychomotor Outcome in Very-low-birth-weight Preterm Infants. Completed NCT03104296
8 Observational Study on the Impact of Iodine Supplementation on Maternal and Child's Thyroid Hormone Homeostasis and on the Child's Psychomotor Development, in the Portuguese Minho Region (IodineMinho) Recruiting NCT04288531

Search NIH Clinical Center for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency

Cochrane evidence based reviews: psychomotor disorders

Genetic Tests for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Genetic tests related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

# Genetic test Affiliating Genes
1 Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 29 SPR

Anatomical Context for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MalaCards organs/tissues related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

40
Thyroid, Brain

Publications for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Articles related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 61 6 25 57
22522443 2012
2
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 61 25 6 57
21431957 2011
3
Two Greek siblings with sepiapterin reductase deficiency. 61 6 25 57
18502672 2008
4
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. 61 25 6 57
17159114 2006
5
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. 61 57 25 6
16049044 2005
6
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. 25 57 6
15241655 2004
7
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 25 57 6
11443547 2001
8
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. 25 57 6
10384371 1999
9
Dihydropteridine reductase deficiency localized to the central nervous system. 6 25 57
9700606 1998
10
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 61 6 25
16650784 2006
11
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. 25 61 20
17074599 2006
12
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency. 57 61
26123188 2015
13
A murine model for human sepiapterin-reductase deficiency. 57 61
16532389 2006
14
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. 61 25
24588500 2014
15
Very early pattern of movement disorders in sepiapterin reductase deficiency. 61 25
24212389 2013
16
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. 61 25
22018912 2012
17
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. 25 61
23430877 2012
18
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. 25 61
22291068 2012
19
Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. 25 61
20222129 2010
20
Sleep and rhythm consequences of a genetically induced loss of serotonin. 25 61
20337188 2010
21
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. 61 25
19130291 2009
22
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. 6
16752391 2006
23
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. 25 61
11592814 2001
24
The role of tetrahydrobiopterin and catecholamines in the developmental regulation of tyrosine hydroxylase level in the brain. 25
23647001 2013
25
Tetrahydrobiopterin biosynthesis as an off-target of sulfa drugs. 25
23704574 2013
26
Good obstetric outcome in a patient with Segawa disease. 25
22836471 2012
27
Whole-genome sequencing for optimized patient management. 25
21677200 2011
28
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain. 25
21062748 2011
29
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. 25
20505134 2010
30
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 25
19332422 2009
31
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 25
19491146 2009
32
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients. 25
18425437 2008
33
A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease. 25
18201550 2008
34
Congenital DOPA-responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies? 25
17253992 2007
35
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. 25
14991824 2004
36
Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation. 25
12874420 2003
37
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 25
12391354 2002
38
Neurotransmitter metabolites in CSF: an external quality control scheme. 25
12227459 2002
39
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. 25
11238300 2001
40
Dopa-responsive dystonia: recent advances and remaining issues to be addressed. 25
10495030 1999
41
An absolute contraindication to nitrous oxide. 25
10364889 1999
42
Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. 25
9153460 1997
43
Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. 25
7689195 1993
44
Dopa-responsive dystonia: long-term treatment response and prognosis. 25
1899474 1991
45
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency. 25
2391014 1990
46
A new mechanism for regulation of tyrosine 3-monooxygenase by end product and cyclic AMP-dependent protein kinase. 25
2857715 1985
47
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review. 61
33453040 2021
48
Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin. 61
32456943 2020
49
Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency. 61
32591469 2020
50
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. 61
32456656 2020

Variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

ClinVar genetic disease variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPR NM_003124.5(SPR):c.355C>T (p.Gln119Ter) SNV Pathogenic 12939 rs121917746 2:73115493-73115493 2:72888364-72888364
2 SPR NM_003124.5(SPR):c.448_452del (p.Thr151fs) Deletion Pathogenic 12940 rs587776777 2:73115583-73115587 2:72888454-72888458
3 SPR NM_003124.5(SPR):c.448A>G (p.Arg150Gly) SNV Pathogenic 12941 rs104893665 2:73115586-73115586 2:72888457-72888457
4 SPR SPR, -13G-A SNV Pathogenic 12942
5 SPR NM_003124.5(SPR):c.488C>T (p.Pro163Leu) SNV Pathogenic 12943 rs104893666 2:73115626-73115626 2:72888497-72888497
6 SPR NM_003124.5(SPR):c.751A>T (p.Lys251Ter) SNV Pathogenic 12944 rs121917747 2:73118631-73118631 2:72891502-72891502
7 SPR NM_003124.5(SPR):c.304G>T (p.Gly102Cys) SNV Pathogenic 31917 rs387907200 2:73114865-73114865 2:72887736-72887736
8 SPR NM_003124.5(SPR):c.596-2A>G SNV Pathogenic 39869 rs398122922 2:73118474-73118474 2:72891345-72891345
9 SPR NM_003124.4(SPR):c.596del (p.Gly199Valfs) Deletion Pathogenic 522878 rs1553498582 2:73118475-73118475 2:72891346-72891346
10 SPR NM_003124.5(SPR):c.655C>T (p.Arg219Ter) SNV Pathogenic 235551 rs779204655 2:73118535-73118535 2:72891406-72891406
11 SPR NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs) Insertion Likely pathogenic 666329 rs1573881742 2:73114578-73114579 2:72887449-72887450
12 SPR NM_003124.5(SPR):c.524C>A (p.Ala175Asp) SNV Likely pathogenic 807499 rs1453510719 2:73115662-73115662 2:72888533-72888533
13 SPR NM_003124.5(SPR):c.486A>G (p.Gln162=) SNV Uncertain significance 895871 2:73115624-73115624 2:72888495-72888495
14 SPR NM_003124.5(SPR):c.536T>C (p.Met179Thr) SNV Uncertain significance 895872 2:73115674-73115674 2:72888545-72888545
15 SPR NM_003124.5(SPR):c.556C>G (p.Leu186Val) SNV Uncertain significance 895873 2:73115694-73115694 2:72888565-72888565
16 SPR NM_003124.5(SPR):c.595+7G>A SNV Uncertain significance 895874 2:73115740-73115740 2:72888611-72888611
17 SPR NM_003124.5(SPR):c.596-4C>G SNV Uncertain significance 895875 2:73118472-73118472 2:72891343-72891343
18 SPR NM_003124.5(SPR):c.706G>A (p.Val236Met) SNV Uncertain significance 660797 rs371904378 2:73118586-73118586 2:72891457-72891457
19 SPR NM_003124.5(SPR):c.*233G>A SNV Uncertain significance 896146 2:73118899-73118899 2:72891770-72891770
20 SPR NM_003124.5(SPR):c.*377G>A SNV Uncertain significance 896147 2:73119043-73119043 2:72891914-72891914
21 SPR NM_003124.5(SPR):c.*575G>A SNV Uncertain significance 896149 2:73119241-73119241 2:72892112-72892112
22 SPR NM_003124.5(SPR):c.-4G>C SNV Uncertain significance 897671 2:73114558-73114558 2:72887429-72887429
23 SPR NM_003124.5(SPR):c.23C>T (p.Ala8Val) SNV Uncertain significance 897672 2:73114584-73114584 2:72887455-72887455
24 SPR NM_003124.5(SPR):c.*607A>C SNV Uncertain significance 897747 2:73119273-73119273 2:72892144-72892144
25 SPR NM_003124.5(SPR):c.120C>T (p.Ser40=) SNV Uncertain significance 898835 2:73114681-73114681 2:72887552-72887552
26 SPR NM_003124.5(SPR):c.305-12T>C SNV Uncertain significance 898836 2:73115431-73115431 2:72888302-72888302
27 SPR NM_003124.5(SPR):c.328G>C (p.Gly110Arg) SNV Uncertain significance 455979 rs201651366 2:73115466-73115466 2:72888337-72888337
28 SPR NM_003124.5(SPR):c.477T>C (p.Cys159=) SNV Uncertain significance 898837 2:73115615-73115615 2:72888486-72888486
29 SPR NM_003124.5(SPR):c.291_293del (p.Ile98del) Deletion Uncertain significance 590838 rs1559048107 2:73114851-73114853 2:72887722-72887724
30 SPR NM_003124.5(SPR):c.80T>C (p.Leu27Pro) SNV Uncertain significance 635029 rs1559047972 2:73114641-73114641 2:72887512-72887512
31 SPR NM_003124.5(SPR):c.*108G>A SNV Uncertain significance 336993 rs372751802 2:73118774-73118774 2:72891645-72891645
32 SPR NM_003124.5(SPR):c.*400C>T SNV Uncertain significance 336996 rs886056289 2:73119066-73119066 2:72891937-72891937
33 SPR NM_003124.5(SPR):c.87G>C (p.Ser29=) SNV Uncertain significance 336988 rs886056287 2:73114648-73114648 2:72887519-72887519
34 SPR NM_003124.5(SPR):c.380A>G (p.Asn127Ser) SNV Uncertain significance 336991 rs755878397 2:73115518-73115518 2:72888389-72888389
35 SPR NM_003124.5(SPR):c.*410C>G SNV Uncertain significance 336997 rs886056290 2:73119076-73119076 2:72891947-72891947
36 SPR NM_003124.5(SPR):c.115C>T (p.Leu39Phe) SNV Uncertain significance 336989 rs777872233 2:73114676-73114676 2:72887547-72887547
37 SPR NM_003124.5(SPR):c.106G>A (p.Val36Met) SNV Uncertain significance 224123 rs869312688 2:73114667-73114667 2:72887538-72887538
38 SPR NM_003124.5(SPR):c.*597C>A SNV Uncertain significance 336998 rs886056291 2:73119263-73119263 2:72892134-72892134
39 SPR NM_003124.5(SPR):c.*321G>C SNV Uncertain significance 336995 rs527829365 2:73118987-73118987 2:72891858-72891858
40 SPR NM_003124.5(SPR):c.*50C>T SNV Uncertain significance 336992 rs760241473 2:73118716-73118716 2:72891587-72891587
41 SPR NM_003124.5(SPR):c.369C>T (p.Tyr123=) SNV Uncertain significance 336990 rs146349901 2:73115507-73115507 2:72888378-72888378
42 SPR NM_003124.5(SPR):c.308C>G (p.Ser103Cys) SNV Uncertain significance 863750 2:73115446-73115446 2:72888317-72888317
43 SPR NM_003124.5(SPR):c.610G>C (p.Asp204His) SNV Uncertain significance 931100 2:73118490-73118490 2:72891361-72891361
44 SPR NM_003124.5(SPR):c.497G>A (p.Gly166Asp) SNV Uncertain significance 932054 2:73115635-73115635 2:72888506-72888506
45 SPR NM_003124.5(SPR):c.-7C>G SNV Benign 336987 rs184034436 2:73114555-73114555 2:72887426-72887426
46 SPR NM_003124.5(SPR):c.785A>G (p.Ter262=) SNV Benign 412652 rs145082655 2:73118665-73118665 2:72891536-72891536
47 SPR NM_003124.5(SPR):c.112G>A (p.Val38Ile) SNV Benign 239509 rs146099322 2:73114673-73114673 2:72887544-72887544
48 SPR NM_003124.5(SPR):c.*432G>A SNV Benign 896148 2:73119098-73119098 2:72891969-72891969

UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 SPR p.Arg150Gly VAR_058007 rs104893665
2 SPR p.Pro163Leu VAR_058008 rs104893666

Expression for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Search GEO for disease gene expression data for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency.

Pathways for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

GO Terms for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Cellular components related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SREBP-SCAP-Insig complex GO:0032937 8.8 SREBF2 INSIG2 INSIG1

Biological processes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 SRXN1 SPR QDPR PRODH PCBD1 DHRS7C
2 lipid metabolic process GO:0006629 9.93 SREBF2 SCAP MBTPS1 INSIG2 INSIG1
3 steroid metabolic process GO:0008202 9.65 SREBF2 SCAP MBTPS1 INSIG2 INSIG1
4 regulation of cholesterol biosynthetic process GO:0045540 9.58 SREBF2 SCAP MBTPS1
5 middle ear morphogenesis GO:0042474 9.56 INSIG2 INSIG1
6 negative regulation of fatty acid biosynthetic process GO:0045717 9.55 INSIG2 INSIG1
7 cholesterol metabolic process GO:0008203 9.55 SREBF2 SCAP MBTPS1 INSIG2 INSIG1
8 nitric oxide biosynthetic process GO:0006809 9.52 SPR GCH1
9 L-phenylalanine catabolic process GO:0006559 9.51 QDPR PCBD1
10 cranial suture morphogenesis GO:0060363 9.48 INSIG2 INSIG1
11 negative regulation of steroid biosynthetic process GO:0010894 9.46 INSIG2 INSIG1
12 response to sterol depletion GO:0006991 9.43 INSIG2 INSIG1
13 dihydrobiopterin metabolic process GO:0051066 9.37 QDPR GCH1
14 SREBP-SCAP complex retention in endoplasmic reticulum GO:0036316 9.32 INSIG2 INSIG1
15 SREBP signaling pathway GO:0032933 9.26 SREBF2 SCAP INSIG2 INSIG1
16 tetrahydrobiopterin biosynthetic process GO:0006729 8.92 SPR QDPR PCBD1 GCH1

Molecular functions related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 SRXN1 SPR QDPR PRODH DHRS7C
2 oxysterol binding GO:0008142 8.62 INSIG2 INSIG1

Sources for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

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
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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