MCID: DYS161
MIFTS: 27

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

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

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 67 65
Sepiapterin Reductase Deficiency 21 45 22 23 51 67 24
Spr Deficiency 21 45 22 23 51 67
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 22 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

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

HPO:

61
dystonia, dopa-responsive, due to sepiapterin reductase deficiency:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity


Classifications:



External Ids:

OMIM49 612716
Orphanet51 70594
ICD10 via Orphanet28 G24.1
MedGen34 C0268468
UMLS65 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 hepatocellular carcinoma and liver cirrhosis, and has symptoms including microcephaly, oculomotor apraxia and aggressive behavior. An important gene associated with Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency is SPR (Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)).

NIH Rare Diseases:45 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: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.

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.

GeneReviews summary for NBK304122

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
1hepatocellular carcinoma10.2
2liver cirrhosis10.2
3osteoarthritis10.2
4small cell carcinoma10.2
5carotid artery thrombosis10.2
6tuberculosis10.2
7dyslexia10.2
8miliary tuberculosis10.2
9albinism10.2
10nonalcoholic steatohepatitis10.2

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

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

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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:

67
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.106G> A (p.Val36Met)single nucleotide variantPathogenicrs869312688GRCh37Chr 2, 73114667: 73114667
8SPRNM_003124.4(SPR): c.304G> T (p.Gly102Cys)single nucleotide variantPathogenicrs387907200GRCh37Chr 2, 73114865: 73114865
9SPRNM_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