MCID: SPP009
MIFTS: 31

Sepiapterin Reductase Deficiency malady

Summaries for Sepiapterin Reductase Deficiency

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43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
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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: Sepiapterin Reductase Deficiency, also known as spr 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 Metabolism. The compounds pteridine and 2'-Monophosphoadenosine 5'-Diphosphoribose have been mentioned in the context of this disorder. Affiliated tissues include brain.

NIH Rare Diseases:43 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:64 Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems,... more...

Aliases & Classifications for Sepiapterin Reductase Deficiency

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43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 61UMLS
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Aliases & Descriptions:

sepiapterin reductase deficiency 43 22 21 61
spr deficiency 43 21
dopa-responsive dystonia due to sepiapterin reductase deficiency 21


Related Diseases for Sepiapterin Reductase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Sepiapterin Reductase Deficiency:



Diseases related to sepiapterin reductase deficiency

Clinical Features for Sepiapterin Reductase Deficiency

Drugs & Therapeutics for Sepiapterin Reductase Deficiency

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Sepiapterin Reductase Deficiency

Search CenterWatch for Sepiapterin Reductase Deficiency

Genetic Tests for Sepiapterin Reductase Deficiency

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22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Sepiapterin Reductase Deficiency:

33
Brain

Animal Models for Sepiapterin Reductase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Sepiapterin Reductase Deficiency

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51PubMed
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Articles related to Sepiapterin Reductase Deficiency:

(show all 18)
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
18
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. (11443547)
2001

Genetic Variations for Sepiapterin Reductase Deficiency

Expression for genes affiliated with Sepiapterin Reductase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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4Cell Signaling Technology, 54Reactome, 30KEGG
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Pathways related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TPH1, NOS1
2
Hide members
8.5TPH1, SPR, NOS1

Compounds for genes affiliated with Sepiapterin Reductase Deficiency

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1pteridine459.7NOS1, SPR
22'-Monophosphoadenosine 5'-Diphosphoribose119.7SPR, NOS1
3s-nitroso-n-acetylpenicillamine459.4TPH1, NOS1
4methamphetamine45 50 1111.4NOS1, TPH1
5fluoxetine50 45 29 1112.4NOS1, TPH1
6peroxynitrite459.4TPH1, NOS1
7n-acetylserotonin45 2410.4TPH1, SPR
8sodium nitroprusside459.4TPH1, NOS1
95-hydroxytryptamine459.3TPH1, NOS1
10choline45 11 2411.3NOS1, TPH1
11nicotine45 50 29 1112.3TPH1, NOS1
12melatonin45 60 29 11 2413.3SPR, TPH1
13valine459.2TPH1, NOS1
14dmso459.2TPH1, NOS1
15acetylcholine45 50 29 11 2413.1TPH1, NOS1
16phenylalanine459.0SPR, TPH1
17gaba459.0TPH1, NOS1
18dihydrobiopterin45 249.9TPH1, SPR, NOS1
19sepiapterin45 249.9TPH1, SPR, NOS1
20pterin45 249.9NOS1, SPR, TPH1
21tetrahydrobiopterin45 11 2410.9TPH1, SPR, NOS1
22norepinephrine45 11 2410.8TPH1, SPR, NOS1
23ascorbic acid45 249.8TPH1, NOS1
24dopamine45 29 11 2411.8NOS1, SPR, TPH1
25nitric oxide45 11 2410.8TPH1, SPR, NOS1

GO Terms for genes affiliated with Sepiapterin Reductase Deficiency

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16Gene Ontology
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Biological processes related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

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

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

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

Products for genes affiliated with Sepiapterin Reductase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sepiapterin Reductase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet