MCID: SPP009
MIFTS: 38

Sepiapterin Reductase Deficiency malady

Rare diseases category
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Summaries for Sepiapterin Reductase Deficiency

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Genetics Home Reference:21 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.

MalaCards based summary: Sepiapterin Reductase Deficiency, also known as dopa-responsive dystonia due to sepiapterin reductase deficiency, is related to hyperphenylalaninemia and dopa-responsive dystonia due to sepiapterin reductase deficiency. An important gene associated with Sepiapterin Reductase Deficiency is SPR (sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)), and among its related pathways are Neuroscience and Circadian entrainment. The compounds pteridine and NADP have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are homeostasis/metabolism and behavior/neurological.

NIH Rare Diseases:42 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

Wikipedia:65 Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems,... more...

Aliases & Classifications for Sepiapterin Reductase Deficiency

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Sepiapterin Reductase Deficiency, Aliases & Descriptions:

Name: Sepiapterin Reductase Deficiency 42 22 21 62
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency 21 62
 
Spr Deficiency 42 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Sepiapterin Reductase Deficiency

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Diseases related to Sepiapterin Reductase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia30.0NOS1, TPH1, SPR
2dopa-responsive dystonia due to sepiapterin reductase deficiency10.7
3dystonia10.4
4adrenoleukodystrophy10.3
5cerebral palsy10.3
6hypertension10.3
7cerebritis10.3
8tetrahydrobiopterin deficiency10.3
9hypersomnia10.3
10hypotonia10.3
11psychotic disorder9.9NOS1, TPH1
12mood disorder9.9TPH1, NOS1
13schizophrenia9.9NOS1, TPH1
14bipolar disorder9.8NOS1, TPH1
15epilepsy syndrome9.8NOS1, TPH1
16parkinson's disease9.7SPR, TPH1, NOS1

Graphical network of diseases related to Sepiapterin Reductase Deficiency:



Diseases related to sepiapterin reductase deficiency

Symptoms for Sepiapterin Reductase Deficiency

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Drugs & Therapeutics for Sepiapterin Reductase Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Sepiapterin Reductase Deficiency

Genetic Tests for Sepiapterin Reductase Deficiency

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Genetic tests related to Sepiapterin Reductase Deficiency:

id Genetic test Affiliating Genes
1 Sepiapterin Reductase Deficiency22

Anatomical Context for Sepiapterin Reductase Deficiency

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MalaCards organs/tissues related to Sepiapterin Reductase Deficiency:

32
Brain

Animal Models for Sepiapterin Reductase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Sepiapterin Reductase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5NOS1, TPH1, SPR
2MP:00053868.4NOS1, TPH1, SPR
3MP:00053788.2NOS1, TPH1, SPR

Publications for Sepiapterin Reductase Deficiency

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Articles related to Sepiapterin Reductase Deficiency:

(show all 17)
idTitleAuthorsYear
1
Very early pattern of movement disorders in sepiapterin reductase deficiency. (24212389)
2013
2
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. (22291068)
2012
3
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. (22522443)
2012
4
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. (23430877)
2012
5
Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension. (22467312)
2012
6
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. (21431957)
2011
7
Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. (20222129)
2010
8
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. (19130291)
2009
9
The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency. (19246455)
2009
10
Two Greek siblings with sepiapterin reductase deficiency. (18502672)
2008
11
Sepiapterin reductase deficiency an autosomal recessive DOPA- responsive dystonia. (16650784)
2006
12
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. (17074599)
2006
13
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. (17159114)
2006
14
A murine model for human sepiapterin-reductase deficiency. (16532389)
2006
15
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. (16049044)
2005
16
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. (11855937)
2002
17
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001

Variations for Sepiapterin Reductase Deficiency

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Expression for genes affiliated with Sepiapterin Reductase Deficiency

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Expression patterns in normal tissues for genes affiliated with Sepiapterin Reductase Deficiency

Search GEO for disease gene expression data for Sepiapterin Reductase Deficiency.

Pathways for genes affiliated with Sepiapterin Reductase Deficiency

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Pathways related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NOS1, TPH1
2
Show member pathways
9.1NOS1, TPH1
3
Show member pathways
8.5NOS1, TPH1, SPR

Compounds for genes affiliated with Sepiapterin Reductase Deficiency

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Compounds related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pteridine449.7NOS1, SPR
2NADP249.6NOS1, SPR
3s-nitroso-n-acetylpenicillamine449.5NOS1, TPH1
4methamphetamine44 50 1111.5NOS1, TPH1
5fluoxetine44 50 28 1112.5NOS1, TPH1
6peroxynitrite449.4NOS1, TPH1
7sodium nitroprusside449.4NOS1, TPH1
85-hydroxytryptamine449.4TPH1, NOS1
9n-acetylserotonin44 2410.4TPH1, SPR
10Sapropterin249.4SPR, TPH1
11choline44 24 1111.4NOS1, TPH1
12nicotine44 28 50 1112.4NOS1, TPH1
13valine449.3TPH1, NOS1
14melatonin44 28 61 24 1113.3TPH1, SPR
15dmso449.3NOS1, TPH1
16gaba449.2NOS1, TPH1
17nadph44 2410.2NOS1, SPR
18ascorbic acid44 2410.2TPH1, NOS1
19phenylalanine449.2TPH1, SPR
20acetylcholine44 50 28 24 1113.1NOS1, TPH1
21h2o2449.1NOS1, TPH1
22dihydrobiopterin44 249.9NOS1, TPH1, SPR
23sepiapterin44 249.9NOS1, TPH1, SPR
24pterin44 249.9SPR, TPH1, NOS1
25tetrahydrobiopterin44 24 1110.9NOS1, TPH1, SPR
26norepinephrine44 24 1110.9NOS1, TPH1, SPR
27dopamine44 28 24 1111.9SPR, TPH1, NOS1
28superoxide44 249.8NOS1, TPH1
29nitric oxide44 24 1110.8SPR, TPH1, NOS1

GO Terms for genes affiliated with Sepiapterin Reductase Deficiency

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Cellular components related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5NOS1, TPH1, SPR

Biological processes related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nitric oxide biosynthetic processGO:0068099.3NOS1, SPR

Molecular functions related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.1NOS1, TPH1
2NADP bindingGO:0506619.0NOS1, SPR

Products for genes affiliated with Sepiapterin Reductase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Sepiapterin Reductase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet