DRDSPRD
MCID: DYS161
MIFTS: 53

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

Categories: Genetic diseases, Metabolic 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 56 73 13 43 71
Sepiapterin Reductase Deficiency 56 12 24 52 25 58 73 29 6 15 39
Spr Deficiency 56 12 24 52 25 58 73
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 12 25 58
Psychomotor Disorders 43 71
Drd Due to Srd 12 58
Srd 56 12
Motor and Cognitive Disorder Due to Sepiapterin Reductase Deficiency 73
Autosomal Recessive Sepiapterin Reductase-Deficient Drd 58
Sepiapterin Reductase Deficiency; Srd 56
Dopa-Responsive Hypersomnia 24
Dyt-Spr 24
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:

56
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...

Genetics Home Reference : 25 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 Regulation of cholesterol biosynthesis by SREBP (SREBF) and Folate biosynthesis. The drugs Alprazolam and Diphenhydramine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, 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.

NIH Rare Diseases : 52 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 : 56 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)

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 136)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive 32.6 SPR GCH1
2 hyperphenylalaninemia, bh4-deficient, a 32.1 QDPR GCH1
3 tetrahydrobiopterin deficiency 32.1 SPR QDPR GCH1
4 aromatic l-amino acid decarboxylase deficiency 32.1 SPR QDPR GCH1
5 hemidystonia 32.0 SPR GCH1
6 hyperphenylalaninemia 30.7 SPR QDPR GCH1
7 oculogyric crisis 30.6 SPR GCH1
8 cervical dystonia 11.3
9 dyt/park-gch1 11.2
10 hypotonia 10.6
11 dystonia 10.6
12 segawa syndrome, autosomal recessive 10.5
13 retinal detachment 10.4
14 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.3
15 hyperphenylalaninemia, bh4-deficient, b 10.3 QDPR GCH1
16 prion disease 10.3
17 phenylketonuria 10.3
18 alacrima, achalasia, and mental retardation syndrome 10.3
19 autosomal recessive disease 10.3
20 cerebral palsy 10.3
21 movement disease 10.3
22 spasticity 10.3
23 tremor 10.3
24 dysphasia, familial developmental 10.2
25 specific language impairment 10.2
26 rabies 10.2
27 autoimmune disease 10.2
28 kala-azar 1 10.1
29 avian influenza 10.1
30 leishmaniasis 10.1
31 visceral leishmaniasis 10.1
32 parkinson disease, late-onset 10.1
33 methylmalonyl-coa epimerase deficiency 10.1
34 adrenoleukodystrophy 10.1
35 chorea, childhood-onset, with psychomotor retardation 10.1
36 quadriplegia 10.1
37 choreatic disease 10.1
38 hypothyroidism 10.1
39 methylmalonic acidemia 10.1
40 adrenomyeloneuropathy 10.1
41 dwarfism 10.1
42 growth hormone deficiency 10.1
43 autonomic dysfunction 10.1
44 encephalopathy 10.1
45 hypersomnia 10.1
46 hypertonia 10.1
47 chromosome 1p36 deletion syndrome 10.1 CHD5 CASZ1 AJAP1
48 vitreoretinopathy, neovascular inflammatory 10.1
49 cystic fibrosis 10.1
50 inflammatory bowel disease 10.1

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 35)
# 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 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
11 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
12 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
13 abnormality of the nose 58 31 frequent (33%) Frequent (79-30%) HP:0000366
14 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
15 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
16 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
17 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
18 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
19 temperature instability 58 31 frequent (33%) Frequent (79-30%) HP:0005968
20 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
21 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
22 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
23 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
24 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
25 dystonia 58 31 Frequent (79-30%) HP:0001332
26 spasticity 31 HP:0001257
27 ataxia 31 HP:0001251
28 dysarthria 31 HP:0001260
29 global developmental delay 31 HP:0001263
30 behavioral abnormality 58 Frequent (79-30%)
31 hyperactivity 31 HP:0000752
32 aggressive behavior 31 HP:0000718
33 choreoathetosis 31 HP:0001266
34 oculomotor apraxia 31 HP:0000657
35 transient hyperphenylalaninemia 31 HP:0008297

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
tremor
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive behavior

Growth Other:
growth retardation

Head And Neck Head:
microcephaly

Head And Neck Eyes:
oculomotor apraxia
oculogyric crises

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

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 AJAP1 CASZ1 CHD5 GCH1 GMDS INSIG1

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 32)
# 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 Tranquilizing Agents Phase 4
6 Hypnotics and Sedatives Phase 4
7 GABA Agents Phase 4
8 GABA Modulators Phase 4
9 GABA Agonists Phase 4
10 GABA-A Receptor Agonists Phase 4
11 Anti-Anxiety Agents Phase 4
12 Pharmaceutical Solutions Phase 4
13 Olive Phase 4
14 Parenteral Nutrition Solutions Phase 4
15 Soybean oil, phospholipid emulsion Phase 4
16 Fat Emulsions, Intravenous Phase 4
17 Soy Bean Phase 4
18 Hematinics Phase 2
19 Epoetin alfa Phase 2 113427-24-0
20
Ethanol Approved Early Phase 1 64-17-5 702
21
Dronabinol Approved, Illicit Early Phase 1 1972-08-3 16078
22 Neurotransmitter Agents Early Phase 1
23 Psychotropic Drugs Early Phase 1
24 Central Nervous System Depressants Early Phase 1
25 Anti-Infective Agents, Local Early Phase 1
26 Anti-Infective Agents Early Phase 1
27 Analgesics, Non-Narcotic Early Phase 1
28 Hormone Antagonists Early Phase 1
29 Hallucinogens Early Phase 1
30 Cannabinoid Receptor Agonists Early Phase 1
31 Analgesics Early Phase 1
32 Hormones Early Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Alprazolam and Simulated Driving Performance: Next Day Effects Completed NCT03297944 Phase 4 Alprazolam;Zolpidem;Placebo
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 Study on the Effectiveness of Action Observation Treatment (AOT) as a Rehabilitation Tool in Acute Stroke Patients and in Chronic Stroke Patients With Apraxia: a Randomized Controlled Trial Unknown status NCT02235350
5 Acute and Residual Effects of Alcohol on Young Drivers' Performance of Driving Related Skills Completed NCT02710578 Alcohol;Placebo
6 Correlation Between Neonatal Cerebral Oxygenation and Later Psychomotor Outcome in Very-low-birth-weight Preterm Infants. Completed NCT03104296
7 Acute and Residual Effects of Cannabis on Young Drivers' Performance of Driving-related Skills Completed NCT01592409 delta-9-tetrahydrocannabinol;Placebo
8 Sensory and Psychomotor Profile in Depression Recruiting NCT04031937
9 What is the Future of Vulnerable New-borns Recruiting NCT04021654
10 Effects of Combined Alcohol and Cannabis on Young Drivers' Simulated Driving Recruiting NCT03106363 Early Phase 1 delta 9 tetrahydrocannabinol;placebo delta 9 tetrahydrocannabinol;Alcohol;Placebo alcohol
11 Evaluation of the Impact of Psychomotricity on the Patients Body Experience in Palliative Care Not yet recruiting NCT03959813

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 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
Brain, Testes, Bone, Lung, Skin

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 61)
# Title Authors PMID Year
1
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. 61 24 56 6
22522443 2012
2
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 61 24 56 6
21431957 2011
3
Two Greek siblings with sepiapterin reductase deficiency. 61 24 56 6
18502672 2008
4
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. 61 24 56 6
17159114 2006
5
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. 61 24 56 6
16049044 2005
6
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. 24 56 6
15241655 2004
7
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 24 56 6
11443547 2001
8
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. 24 56 6
10384371 1999
9
Dihydropteridine reductase deficiency localized to the central nervous system. 24 56 6
9700606 1998
10
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 61 24 6
16650784 2006
11
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. 61 24 52
17074599 2006
12
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency. 61 56
26123188 2015
13
Sepiapterin Reductase Deficiency 61 6
26131547 2015
14
A murine model for human sepiapterin-reductase deficiency. 61 56
16532389 2006
15
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. 61 24
24588500 2014
16
Very early pattern of movement disorders in sepiapterin reductase deficiency. 61 24
24212389 2013
17
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. 61 24
22018912 2012
18
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. 61 24
23430877 2012
19
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. 61 24
22291068 2012
20
Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. 61 24
20222129 2010
21
Sleep and rhythm consequences of a genetically induced loss of serotonin. 61 24
20337188 2010
22
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. 61 24
19130291 2009
23
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. 6
16752391 2006
24
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. 61 24
11592814 2001
25
The role of tetrahydrobiopterin and catecholamines in the developmental regulation of tyrosine hydroxylase level in the brain. 24
23647001 2013
26
Tetrahydrobiopterin biosynthesis as an off-target of sulfa drugs. 24
23704574 2013
27
Good obstetric outcome in a patient with Segawa disease. 24
22836471 2012
28
Whole-genome sequencing for optimized patient management. 24
21677200 2011
29
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain. 24
21062748 2011
30
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. 24
20505134 2010
31
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 24
19332422 2009
32
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 24
19491146 2009
33
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients. 24
18425437 2008
34
A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease. 24
18201550 2008
35
Congenital DOPA-responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies? 24
17253992 2007
36
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. 24
14991824 2004
37
Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation. 24
12874420 2003
38
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 24
12391354 2002
39
Neurotransmitter metabolites in CSF: an external quality control scheme. 24
12227459 2002
40
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. 24
11238300 2001
41
Dopa-responsive dystonia: recent advances and remaining issues to be addressed. 24
10495030 1999
42
An absolute contraindication to nitrous oxide. 24
10364889 1999
43
Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. 24
9153460 1997
44
Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. 24
7689195 1993
45
Dopa-responsive dystonia: long-term treatment response and prognosis. 24
1899474 1991
46
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency. 24
2391014 1990
47
A new mechanism for regulation of tyrosine 3-monooxygenase by end product and cyclic AMP-dependent protein kinase. 24
2857715 1985
48
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. 61
31777525 2019
49
Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? 61
31041399 2019
50
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. 61
29116116 2017

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 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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-ASNV 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>GSNV Pathogenic 39869 rs398122922 2:73118474-73118474 2:72891345-72891345
9 SPR NM_003124.5(SPR):c.655C>T (p.Arg219Ter)SNV Pathogenic 235551 rs779204655 2:73118535-73118535 2:72891406-72891406
10 SPR NM_003124.4(SPR):c.596del (p.Gly199Valfs)deletion Pathogenic 522878 rs1553498582 2:73118475-73118475 2:72891346-72891346
11 SPR NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs)insertion Likely pathogenic 666329 2:73114578-73114579 2:72887449-72887450
12 SPR NM_003124.5(SPR):c.524C>A (p.Ala175Asp)SNV Likely pathogenic 807499 2:73115662-73115662 2:72888533-72888533
13 SPR NM_003124.5(SPR):c.106G>A (p.Val36Met)SNV Uncertain significance 224123 rs869312688 2:73114667-73114667 2:72887538-72887538
14 SPR NM_003124.5(SPR):c.291_293del (p.Ile98del)deletion Uncertain significance 590838 rs1559048107 2:73114851-73114853 2:72887722-72887724
15 SPR NM_003124.5(SPR):c.80T>C (p.Leu27Pro)SNV Uncertain significance 635029 rs1559047972 2:73114641-73114641 2:72887512-72887512

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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.24 SCAP MBTPS1 INSIG2 INSIG1
2
Show member pathways
10.79 SPR QDPR GCH1
3 10.79 SCAP MBTPS1 INSIG2 INSIG1

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 8.62 INSIG2 INSIG1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.62 SCAP MBTPS1 INSIG2 INSIG1
2 cellular amino acid metabolic process GO:0006520 9.54 SRR QDPR
3 sterol biosynthetic process GO:0016126 9.52 INSIG2 INSIG1
4 middle ear morphogenesis GO:0042474 9.51 INSIG2 INSIG1
5 negative regulation of fatty acid biosynthetic process GO:0045717 9.49 INSIG2 INSIG1
6 nitric oxide biosynthetic process GO:0006809 9.48 SPR GCH1
7 cofactor metabolic process GO:0051186 9.46 SPR GCH1
8 cholesterol metabolic process GO:0008203 9.46 SCAP MBTPS1 INSIG2 INSIG1
9 cranial suture morphogenesis GO:0060363 9.43 INSIG2 INSIG1
10 negative regulation of steroid biosynthetic process GO:0010894 9.4 INSIG2 INSIG1
11 response to sterol depletion GO:0006991 9.37 INSIG2 INSIG1
12 dihydrobiopterin metabolic process GO:0051066 9.26 QDPR GCH1
13 tetrahydrobiopterin biosynthetic process GO:0006729 9.13 SPR QDPR GCH1
14 SREBP signaling pathway GO:0032933 8.8 SCAP 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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