DRDSPRD
MCID: DYS161
MIFTS: 36

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

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

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

Aliases & Descriptions for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Name: Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 54 66 13 69
Sepiapterin Reductase Deficiency 23 50 24 25 56 66 29
Spr Deficiency 23 50 24 25 56 66
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 24 25 56
Psychomotor Disorders 42 69
Motor and Cognitive Disorder Due to Sepiapterin Reductase Deficiency 66
Autosomal Recessive Sepiapterin Reductase-Deficient Drd 56
Dopa-Responsive Hypersomnia 23
Sepiapterin Reductase 13
Drd Due to Srd 56
Dyt-Spr 23
Drdsprd 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
dystonia, dopa-responsive, due to sepiapterin reductase deficiency:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 54 612716
Orphanet 56 ORPHA70594
ICD10 via Orphanet 34 G24.1
MedGen 40 C0268468

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

OMIM : 54 SPR deficiency results in neurologic deterioration due to severe dopamine and serotonin deficiencies in the central... (612716) more...

MalaCards based summary : Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency, also known as sepiapterin reductase deficiency, is related to dystonia, dopa-responsive, with or without hyperphenylalaninemia and dystonia, and has symptoms including ataxia, seizures and tremor. An important gene associated with Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency is SPR (Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)). The drugs Dexmedetomidine and Remifentanil have been mentioned in the context of this disorder.

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.

NIH Rare Diseases : 50 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. last updated: 4/19/2016

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems,... more...

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:

id Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive, with or without hyperphenylalaninemia 11.2
2 dystonia 10.0
3 adrenoleukodystrophy 9.9
4 cerebral palsy 9.9
5 cerebritis 9.9
6 hyperphenylalaninemia 9.9
7 tetrahydrobiopterin deficiency 9.9
8 hypersomnia 9.9
9 hypotonia 9.9

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...

Symptoms by clinical synopsis from OMIM:

612716

Clinical features from OMIM:

612716

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

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 tremor 32 HP:0001337
4 dystonia 32 HP:0001332
5 intellectual disability 32 HP:0001249
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 sleep disturbance 32 HP:0002360
9 global developmental delay 32 HP:0001263
10 microcephaly 32 HP:0000252
11 growth delay 32 HP:0001510
12 aggressive behavior 32 HP:0000718
13 hyperactivity 32 HP:0000752
14 choreoathetosis 32 HP:0001266
15 oculomotor apraxia 32 HP:0000657
16 muscular hypotonia of the trunk 32 HP:0008936
17 transient hyperphenylalaninemia 32 HP:0008297

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


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

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 top 50) (show all 435)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Magnesium Sulfate Approved, Vet_approved Phase 4,Phase 3 7487-88-9 24083
5
Sevoflurane Approved, Vet_approved Phase 4,Phase 3,Phase 2 28523-86-6 5206
6
Desflurane Approved Phase 4 57041-67-5 42113
7
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
8
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2 137-58-6 3676
9
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
10
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
11
Memantine Approved, Investigational Phase 4 19982-08-2 4054
12
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
13
Lorazepam Approved Phase 4,Phase 3,Phase 1 846-49-1 3958
14
Ziprasidone Approved Phase 4,Phase 3 146939-27-7 60854
15
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
16
Ketamine Approved, Vet_approved Phase 4,Phase 3 6740-88-1 3821
17
Midazolam Approved, Illicit Phase 4,Phase 3 59467-70-8 4192
18
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
19
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 64-17-5 702
20
Citalopram Approved Phase 4,Phase 3 59729-33-8 2771
21
Loxapine Approved Phase 4,Phase 3,Phase 2,Phase 1 1977-10-2 3964
22
Clonidine Approved Phase 4,Phase 3,Phase 1,Phase 2 4205-90-7 2803
23
Diphenhydramine Approved Phase 4,Phase 2,Phase 1 58-73-1, 147-24-0 3100
24
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
25
Promethazine Approved Phase 4,Phase 2,Phase 1 60-87-7 4927
26
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
27
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
28
Isoflurane Approved, Vet_approved Phase 4,Phase 2 26675-46-7 3763
29
Nitrous oxide Approved, Vet_approved Phase 4,Phase 2 10024-97-2 948
30
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
31
Asenapine Approved Phase 4 85650-56-2, 65576-45-6 3001386
32
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
33
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
34
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
35
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
36
Clonazepam Approved, Illicit Phase 4,Phase 3 1622-61-3 2802
37
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
38
Nicotine Approved Phase 4 54-11-5 942 89594
39
Topiramate Approved Phase 4 97240-79-4 5284627
40
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
41
Zolpidem Approved Phase 4 82626-48-0 5732
42
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
43
Norepinephrine Approved Phase 4,Phase 2,Phase 3 51-41-2 439260
44
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
45
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
46
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 50-02-2 5743
47
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
48
Lactulose Approved Phase 4 4618-18-2 11333
49
Acetaminophen Approved Phase 4,Phase 2,Phase 3 103-90-2 1983
50
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2 93-14-1 3516

Interventional clinical trials:

(show top 50) (show all 568)
id Name Status NCT ID Phase
1 Effect of Deksmedetomidine and Remifentanil in Extubation Agitation Unknown status NCT02104297 Phase 4
2 Addition of Magnesium Sulfate to Caudal to Prevent Postoperative Emergence Agitation. Unknown status NCT02164773 Phase 4
3 The Effect of Dexmedetomidine on Emergence Agitation in Children Undergoing a Surgery Under Desflurane Anesthesia Unknown status NCT01578161 Phase 4
4 Small Doses of Dexmedetomidine for Emergence Agitation Unknown status NCT02169843 Phase 4
5 A RCT of Compound Lidocaine Cream to Prevent Postoperative Agitation in Patients With Endotracheal Intubation for GA Unknown status NCT02017392 Phase 4
6 The Effect of Intramuscular Dexmedetomidine on Emergence Agitation in Children Undergoing With or Without Tube Insertion Under General Anesthesia Unknown status NCT01535287 Phase 4
7 ED50 of Dexmedetomidine to Prevent Emergence Agitation in Children Unknown status NCT01374737 Phase 4
8 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4
9 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4
10 Ziprasidone vs Standard Therapy for Agitated Patients in the ED Unknown status NCT00786318 Phase 4
11 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4
12 Magnesium Sulphate and Sevoflurane Induced Emergence Agitation in Children Unknown status NCT01743144 Phase 4
13 Escitalopram Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4
14 IMPACT: A Study to Explore the Efficacy and Safety of Paliperidone ER in Patients With Acute Agitation Completed NCT01050478 Phase 4
15 Loxapine in the Management of Restlessness During Mechanical Ventilation Weaning Completed NCT01193816 Phase 4
16 Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP) Completed NCT00043849 Phase 4
17 Does Intraoperative Clonidine Reduce Post Operative Agitation in Children? Completed NCT02361476 Phase 4
18 Dyphenhidramine Effect on Prevention of Sevoflurane Induced Post Anesthesia Agitation in Pediatric Completed NCT02463929 Phase 4
19 Scalp Nerve Block on Emergence Agitation Completed NCT02428283 Phase 4
20 Sevoflurane Induced Emergence Agitation Completed NCT02022488 Phase 4
21 Comparison of Emergence Agitation Between Sevoflurane and Desflurane Anesthesia After Orthognathic Surgery Completed NCT01878656 Phase 4
22 Effects of Dexmedetomidine on Stress Response and Postoperative Analgesia Completed NCT01517932 Phase 4
23 Treating Acutely Agitated Patients With Asenapine Sublingual Tablets Completed NCT01400113 Phase 4
24 Liquid Risperidone in the Treatment of Acute Agitation in Psychiatrically Hospitalized Children Completed NCT00790075 Phase 4
25 Propofol in Emergence Agitation Completed NCT00535613 Phase 4
26 Escitalopram Treatment for BPSD in Alzheimer's Disease in Comparison to Risperidone Completed NCT01119638 Phase 4
27 Switching From Oral Dopamine Agonists to Rotigotine Completed NCT01976871 Phase 4
28 Treatment of Behavioral Symptoms in Alzheimer's Disease Completed NCT00009217 Phase 4
29 Antipsychotic Discontinuation in Alzheimer's Disease Completed NCT00417482 Phase 4
30 A Comparison of Two Standard Therapies in the Management of Dementia With Agitation Completed NCT00208819 Phase 4
31 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4
32 Efficacy and Safety of Risperidone Oral Solution Combination Clonazepam Versus Haloperidol Intramuscular (IM) Injection for Treatment of Acute Psychotic Agitation in Schizophrenia Completed NCT00859872 Phase 4
33 SWITCH:Restless Legs Patients Switched to Ropinirole From Pramipexole Completed NCT00344994 Phase 4
34 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4
35 Quetiapine for Delirium Prophylaxis in High-risk Critically Ill Patients Completed NCT02612948 Phase 4
36 Haldol/Diphenhydramine Versus Metoclopramide/Diphenhydramine for Treatment of Acute Headache in the Emergency Department: A Randomized Controlled Trial Completed NCT02098499 Phase 4
37 Nicotine Replacement Therapy in the Intensive Care Unit Completed NCT01362959 Phase 4
38 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4
39 Autonomic Function and Cardiovascular Risk in Restless Legs Syndrome Completed NCT02025608 Phase 4
40 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4
41 A 6 Week Trial to Study the Efficacy and Safety of a Starting Dose 0.25 mg Pramipexole (Mirapex) in Patients With RLS Completed NCT00375284 Phase 4
42 12-week Polysomnography Study of Ropinirole Controlled Release for Restless Legs Syndrome Completed NCT00373542 Phase 4
43 Phase IV Trial With Pramipexole to Evaluate Safety and Efficacy in Patients With RLS Associated With Mood Disturbances Completed NCT00356096 Phase 4
44 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4
45 Efficacy and Safety Study of Topiramate to Treat Restless Legs Syndrome Completed NCT00200941 Phase 4
46 Dexmedetomidine to Prevent Agitation After Free Flap Surgery Completed NCT01904760 Phase 4
47 Comparison of Ketamine-propofol Combinations Completed NCT02848963 Phase 4
48 Post-marketing Study of Gabapentin Enacarbil to Evaluate the Effect in Restless Leg Syndrome (RLS) Patients With Moderate Renal Impairment Completed NCT01981941 Phase 4
49 Restless Legs Syndrome With Iron Deficiency or Anaemia in the 3rd Trimester of Pregnancy Completed NCT01245777 Phase 4
50 Sleep Satisfaction and Psychomotor Performance of Adults Completed NCT01097382 Phase 4

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:

id Genetic test Affiliating Genes
1 Sepiapterin Reductase Deficiency 29
2 Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 24 SPR

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

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 SPR p.Arg150Gly VAR_058007 rs104893665
2 SPR p.Pro163Leu VAR_058008 rs104893666

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SPR NM_003124.4(SPR): c.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs121917746 GRCh37 Chromosome 2, 73115493: 73115493
2 SPR NM_003124.4(SPR): c.448_452delAGAAC (p.Thr151Glyfs) deletion Pathogenic rs587776777 GRCh37 Chromosome 2, 73115586: 73115590
3 SPR NM_003124.4(SPR): c.448A> G (p.Arg150Gly) single nucleotide variant Pathogenic rs104893665 GRCh37 Chromosome 2, 73115586: 73115586
4 SPR SPR, -13G-A single nucleotide variant Pathogenic
5 SPR NM_003124.4(SPR): c.488C> T (p.Pro163Leu) single nucleotide variant Pathogenic rs104893666 GRCh37 Chromosome 2, 73115626: 73115626
6 SPR NM_003124.4(SPR): c.751A> T (p.Lys251Ter) single nucleotide variant Pathogenic rs121917747 GRCh37 Chromosome 2, 73118631: 73118631
7 SPR NM_003124.4(SPR): c.304G> T (p.Gly102Cys) single nucleotide variant Pathogenic rs387907200 GRCh37 Chromosome 2, 73114865: 73114865
8 SPR NM_003124.4(SPR): c.596-2A> G single nucleotide variant Pathogenic rs398122922 GRCh37 Chromosome 2, 73118474: 73118474

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...

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

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