MCID: DYS161
MIFTS: 30

Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

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

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

Name: Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 49 11 22 65 67
Sepiapterin Reductase Deficiency 21 45 22 23 51 24 67
Spr Deficiency 21 45 22 23 51 67
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 23 51
Motor and Cognitive Disorder Due to Sepiapterin Reductase Deficiency 67
 
Autosomal Recessive Sepiapterin Reductase-Deficient Drd 51
Dopa-Responsive Hypersomnia 21
Drd Due to Srd 51
Dyt-Spr 21
Drdsprd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
sepiapterin reductase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 612716
Orphanet51 70594
ICD10 via Orphanet28 G24.1
MedGen34 C0268468

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

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OMIM:49 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 and adrenoleukodystrophy, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and microcephaly. An important gene associated with Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency is SPR (Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)). Affiliated tissues include brain.

Genetics Home Reference:23 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:45 Sepiapterin reductase deficiency is a type of neurotransmitter disorder. it can also be more broadly classified as an inborn error of metabolism, because it is caused by an error in the pterin metabolism. pterin metabolism plays an important role in making neurotransmitters in the brain, specifically dopamine, serotonin, biopterin, and their metabolites. this deficiency is caused by mutations in the spr gene and is inherited in an autosomal recessive fashion. common symptoms include developmental delay, learning disability, and impaired motor skills. treatment with levodopa has shown much success causing drastic improvements in motor functioning. last updated: 2/18/2009

UniProtKB/Swiss-Prot:67 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 summary for spr-def

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

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

idRelated DiseaseScoreTop Affiliating Genes
1dystonia10.5
2adrenoleukodystrophy10.3
3cerebral palsy10.3
4cerebritis10.3
5tetrahydrobiopterin deficiency10.3
6hyperphenylalaninemia10.3
7hypersomnia10.3
8hypotonia10.3

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



Diseases related to dystonia, dopa-responsive, due to sepiapterin reductase deficiency

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

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Symptoms by clinical synopsis from OMIM:

612716

Clinical features from OMIM:

612716

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

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 microcephaly HP:0000252
4 oculomotor apraxia HP:0000657
5 aggressive behavior HP:0000718
6 hyperactivity HP:0000752
7 intellectual disability HP:0001249
8 seizures HP:0001250
9 ataxia HP:0001251
10 spasticity HP:0001257
11 dysarthria HP:0001260
12 global developmental delay HP:0001263
13 choreoathetosis HP:0001266
14 dystonia HP:0001332
15 tremor HP:0001337
16 growth delay HP:0001510
17 sleep disturbance HP:0002360
18 infantile onset HP:0003593
19 variable expressivity HP:0003828
20 transient hyperphenylalaninemia HP:0008297
21 muscular hypotonia of the trunk HP:0008936

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency22 SPR
2 Sepiapterin Reductase Deficiency24

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

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

33
Brain

Animal Models for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase... or affiliated genes

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

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

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

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id Symbol AA change Variation ID SNP ID
1SPRp.Arg150GlyVAR_058007
2SPRp.Pro163LeuVAR_058008

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPRNM_003124.4(SPR): c.355C> T (p.Gln119Ter)single nucleotide variantPathogenicrs121917746GRCh37Chr 2, 73115493: 73115493
2SPRNM_003124.4(SPR): c.448_452delAGAAC (p.Thr151Glyfs)deletionPathogenicrs587776777GRCh37Chr 2, 73115586: 73115590
3SPRNM_003124.4(SPR): c.448A> G (p.Arg150Gly)single nucleotide variantPathogenicrs104893665GRCh37Chr 2, 73115586: 73115586
4SPRSPR, -13G-Asingle nucleotide variantPathogenic
5SPRNM_003124.4(SPR): c.488C> T (p.Pro163Leu)single nucleotide variantPathogenicrs104893666GRCh37Chr 2, 73115626: 73115626
6SPRNM_003124.4(SPR): c.751A> T (p.Lys251Ter)single nucleotide variantPathogenicrs121917747GRCh37Chr 2, 73118631: 73118631
7SPRNM_003124.4(SPR): c.304G> T (p.Gly102Cys)single nucleotide variantPathogenicrs387907200GRCh37Chr 2, 73114865: 73114865
8SPRNM_003124.4(SPR): c.596-2A> Gsingle nucleotide variantPathogenicrs398122922GRCh37Chr 2, 73118474: 73118474

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

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

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

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet