MCID: SPP009
MIFTS: 27

Sepiapterin Reductase Deficiency malady

Summaries for Sepiapterin Reductase Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: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:63 Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems,... more...

Aliases & Classifications for Sepiapterin Reductase Deficiency

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

sepiapterin reductase deficiency 42 22 21 60
spr deficiency 42 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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Diseases related to Sepiapterin Reductase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia30.3SPR, TPH1, NOS1
2dopa-responsive dystonia due to sepiapterin reductase deficiency10.7
3cerebritis10.2
4adrenoleukodystrophy10.2
5cerebral palsy10.2
6hypertension10.2
7tetrahydrobiopterin deficiency10.2
8schizoaffective disorder10.0NOS1
9phenylketonuria10.0SPR
10panic disorder10.0TPH1
11anorexia nervosa10.0TPH1
12migraine10.0TPH1
13bipolar disorder10.0TPH1, NOS1
14psychotic disorder10.0NOS1, TPH1
15mood disorder10.0TPH1, NOS1
16epilepsy syndrome10.0TPH1, NOS1
17parkinson's disease10.0TPH1, SPR, NOS1

Graphical network of diseases related to Sepiapterin Reductase Deficiency:



Diseases related to sepiapterin reductase deficiency

Clinical Features for Sepiapterin Reductase Deficiency

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Drugs & Therapeutics for Sepiapterin Reductase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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32MalaCards
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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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Publications for Sepiapterin Reductase Deficiency

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Genetic Variations for Sepiapterin Reductase Deficiency

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Expression for genes affiliated with Sepiapterin Reductase Deficiency

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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, 53Reactome, 29KEGG
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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

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1pteridine449.7NOS1, SPR
22'-Monophosphoadenosine 5'-Diphosphoribose119.7SPR, NOS1
3s-nitroso-n-acetylpenicillamine449.4TPH1, NOS1
4methamphetamine44 49 1111.4NOS1, TPH1
5fluoxetine49 44 28 1112.4NOS1, TPH1
6peroxynitrite449.4TPH1, NOS1
7n-acetylserotonin44 2410.4TPH1, SPR
8sodium nitroprusside449.4TPH1, NOS1
95-hydroxytryptamine449.3TPH1, NOS1
10choline44 11 2411.3NOS1, TPH1
11nicotine44 49 28 1112.3TPH1, NOS1
12melatonin44 59 28 11 2413.3SPR, TPH1
13valine449.2TPH1, NOS1
14dmso449.2TPH1, NOS1
15acetylcholine44 49 28 11 2413.1TPH1, NOS1
16phenylalanine449.0SPR, TPH1
17gaba449.0TPH1, NOS1
18dihydrobiopterin44 249.9TPH1, SPR, NOS1
19sepiapterin44 249.9TPH1, SPR, NOS1
20pterin44 249.9NOS1, SPR, TPH1
21tetrahydrobiopterin44 11 2410.9TPH1, SPR, NOS1
22norepinephrine44 11 2410.8TPH1, SPR, NOS1
23ascorbic acid44 249.8TPH1, NOS1
24dopamine44 28 11 2411.8NOS1, SPR, TPH1
25nitric oxide44 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet