MCID: SPP009
MIFTS: 37

Sepiapterin Reductase Deficiency malady

Rare diseases category

Summaries for Sepiapterin Reductase Deficiency

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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Genetics Home Reference:22 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 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:44 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:66 Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems,... more...

Aliases & Classifications for Sepiapterin Reductase Deficiency

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44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 63UMLS
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Classifications:

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


Aliases & Descriptions:

sepiapterin reductase deficiency 44 23 22 63
spr deficiency 44 22
dopa-responsive dystonia due to sepiapterin reductase deficiency 22


Related Diseases for Sepiapterin Reductase Deficiency

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18GeneCards, 19GeneDecks
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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
1hyperphenylalaninemia30.3NOS1, TPH1, SPR
2dopa-responsive dystonia due to sepiapterin reductase deficiency10.7
3dystonia10.4
4adrenoleukodystrophy10.3
5cerebritis10.3
6cerebral palsy10.3
7hypertension10.3
8tetrahydrobiopterin deficiency10.3
9hypersomnia10.3
10hypotonia10.3
11psychotic disorder10.0NOS1, TPH1
12mood disorder10.0TPH1, NOS1
13schizophrenia10.0NOS1, TPH1
14bipolar disorder10.0NOS1, TPH1
15epilepsy syndrome9.9NOS1, TPH1
16parkinson's disease9.9SPR, 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Sepiapterin Reductase Deficiency

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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23GTR
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Genetic tests related to Sepiapterin Reductase Deficiency:

id Genetic test Affiliating Genes
1 Sepiapterin Reductase Deficiency23

Anatomical Context for Sepiapterin Reductase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Sepiapterin Reductase Deficiency:

34
Brain

Animal Models for Sepiapterin Reductase Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sepiapterin Reductase Deficiency:

38
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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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Sepiapterin Reductase Deficiency:

1
id Gene Name 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)deletionPathogenicGRCh37Chr 2, 73115586: 73115590
3SPRNM_003124.4(SPR): c.448A> G (p.Arg150Gly)single nucleotide variantPathogenicrs104893665GRCh37Chr 2, 73115586: 73115586
4SPRNM_003124.4(SPR): c.488C> T (p.Pro163Leu)single nucleotide variantPathogenicrs104893666GRCh37Chr 2, 73115626: 73115626
5SPRNM_003124.4(SPR): c.751A> T (p.Lys251Ter)single nucleotide variantPathogenicrs121917747GRCh37Chr 2, 73118631: 73118631
6SPRNM_003124.4(SPR): c.304G> T (p.Gly102Cys)single nucleotide variantPathogenicrs387907200GRCh37Chr 2, 73114865: 73114865
7SPRNM_003124.4(SPR): c.596-2A> Gsingle nucleotide variantPathogenicrs398122922GRCh37Chr 2, 73118474: 73118474

Expression for genes affiliated with Sepiapterin Reductase Deficiency

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2BioGPS, 16Gene 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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51PathCards, 5Cell Signaling Technology, 31KEGG, 56Reactome
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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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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pteridine469.7NOS1, SPR
2NADP259.6NOS1, SPR
3s-nitroso-n-acetylpenicillamine469.5NOS1, TPH1
4methamphetamine46 52 1211.5NOS1, TPH1
5fluoxetine46 52 30 1212.5NOS1, TPH1
6peroxynitrite469.4NOS1, TPH1
7sodium nitroprusside469.4NOS1, TPH1
85-hydroxytryptamine469.4TPH1, NOS1
9n-acetylserotonin46 2510.4TPH1, SPR
10Sapropterin259.4SPR, TPH1
11choline46 25 1211.4NOS1, TPH1
12nicotine46 30 52 1212.4NOS1, TPH1
13valine469.3TPH1, NOS1
14melatonin46 30 62 25 1213.3TPH1, SPR
15dmso469.3NOS1, TPH1
16gaba469.2NOS1, TPH1
17nadph46 2510.2NOS1, SPR
18ascorbic acid46 2510.2TPH1, NOS1
19phenylalanine469.2TPH1, SPR
20acetylcholine46 52 30 25 1213.1NOS1, TPH1
21h2o2469.1NOS1, TPH1
22dihydrobiopterin46 259.9NOS1, TPH1, SPR
23sepiapterin46 259.9NOS1, TPH1, SPR
24pterin46 259.9SPR, TPH1, NOS1
25tetrahydrobiopterin46 25 1210.9NOS1, TPH1, SPR
26norepinephrine46 25 1210.9NOS1, TPH1, SPR
27dopamine46 30 25 1211.9SPR, TPH1, NOS1
28superoxide46 259.8NOS1, TPH1
29nitric oxide46 25 1210.8SPR, TPH1, NOS1

GO Terms for genes affiliated with Sepiapterin Reductase Deficiency

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17Gene Ontology
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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
  • Antibodies

Sources for Sepiapterin Reductase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet