MCID: SPP009
MIFTS: 37

Sepiapterin Reductase Deficiency malady

Rare diseases category
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Summaries for Sepiapterin Reductase Deficiency

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 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: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:65 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, 62UMLS
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Classifications:

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


Aliases & Descriptions:

sepiapterin reductase deficiency 43 22 21 62
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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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Sepiapterin Reductase Deficiency

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Sepiapterin Reductase Deficiency:

33
Brain

Animal Models for Sepiapterin Reductase Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Sepiapterin Reductase Deficiency:

37
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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52PubMed
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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, 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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50PathCards, 5Cell Signaling Technology, 30KEGG, 55Reactome
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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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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Sepiapterin Reductase Deficiency according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pteridine459.7NOS1, SPR
2NADP249.6NOS1, SPR
3s-nitroso-n-acetylpenicillamine459.5NOS1, TPH1
4methamphetamine45 51 1111.5NOS1, TPH1
5fluoxetine45 51 29 1112.5NOS1, TPH1
6peroxynitrite459.4NOS1, TPH1
7sodium nitroprusside459.4NOS1, TPH1
85-hydroxytryptamine459.4TPH1, NOS1
9n-acetylserotonin45 2410.4TPH1, SPR
10Sapropterin249.4SPR, TPH1
11choline45 24 1111.4NOS1, TPH1
12nicotine45 29 51 1112.4NOS1, TPH1
13valine459.3TPH1, NOS1
14melatonin45 29 61 24 1113.3TPH1, SPR
15dmso459.3NOS1, TPH1
16gaba459.2NOS1, TPH1
17nadph45 2410.2NOS1, SPR
18ascorbic acid45 2410.2TPH1, NOS1
19phenylalanine459.2TPH1, SPR
20acetylcholine45 51 29 24 1113.1NOS1, TPH1
21h2o2459.1NOS1, TPH1
22dihydrobiopterin45 249.9NOS1, TPH1, SPR
23sepiapterin45 249.9NOS1, TPH1, SPR
24pterin45 249.9SPR, TPH1, NOS1
25tetrahydrobiopterin45 24 1110.9NOS1, TPH1, SPR
26norepinephrine45 24 1110.9NOS1, TPH1, SPR
27dopamine45 29 24 1111.9SPR, TPH1, NOS1
28superoxide45 249.8NOS1, TPH1
29nitric oxide45 24 1110.8SPR, TPH1, NOS1

GO Terms for genes affiliated with Sepiapterin Reductase Deficiency

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet