MCID: TTR005
MIFTS: 48

Tetrahydrobiopterin Deficiency malady

Rare diseases category

Summaries for Tetrahydrobiopterin Deficiency

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Tetrahydrobiopterin (bh4) deficiency is a neurological condition caused by an inborn error of metabolism. bh4 is a substance in the body that enhances the action of other enzymes. deficiency of bh4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. signs and symptoms can range from very mild to severe. affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. bh4 deficiency is caused by mutations in any one of several genes including the gch1, pcbd1, pts, and qdpr genes. it is inherited in an autosomal recessive manner.treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral bh4 supplementation; and neurotransmitter replacement. last updated: 11/2/2012

MalaCards: Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia, non-phenylketonuric, is related to hyperphenylalaninemia and phenylketonuria. An important gene associated with Tetrahydrobiopterin Deficiency is PTS (6-pyruvoyltetrahydropterin synthase), and among its related pathways are phenylalanine degradation I and Nucleotide Metabolism. The compounds dihydroneopterin triphosphate and 7-biopterin have been mentioned in the context of this disorder. Affiliated tissues include endothelial and brain, and related mouse phenotypes are pigmentation and renal/urinary system.

Genetics Home Reference:22 Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.

Wikipedia:66 Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic... more...

Aliases & Classifications for Tetrahydrobiopterin Deficiency

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66Wikipedia, 44NIH Rare Diseases, 22Genetics Home Reference, 63UMLS
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

tetrahydrobiopterin deficiency 66 44 22
hyperphenylalaninemia, non-phenylketonuric 44 22 63
non-phenylketonuric hyperphenylalaninemia 66 44 22
bh4 deficiency 66 44 22
hyperphenylalaninemia caused by a defect in biopterin metabolism 44 22


Related Diseases for Tetrahydrobiopterin Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Tetrahydrobiopterin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia30.6NOS1, GCH1, PCBD1, PAH, PTS, TH
2phenylketonuria30.6QDPR, PTS, PAH
3gtp cyclohydrolase i deficiency30.4GCH1, TH, PTS, QDPR
4hyperprolactinemia30.1TH, GH1, PRL
5diabetes mellitus30.0NOS3, GH1, SOD1, PTS
6atherosclerosis30.0PTS, SOD1, NOS1, NOS3
76-pyruvoyl-tetrahydropterin synthase deficiency10.4
8endotheliitis10.3
9hyperphenylalaninemia, bh4-deficient, a10.3
10tyrosine hydroxylase deficiency10.1TH
11neuroblastoma10.1TH
12tyrosinemia10.1PTS, PAH
13acute chest syndrome10.1NOS3
14parkinson's disease10.1TH, GCH1
15movement disease10.1TH, GCH1
16neuronitis10.1
17gastroparesis10.1
18rabies10.1
19dystonia10.1
20hyperphenylalaninemia due to dehydratase deficiency10.1
21sepiapterin reductase deficiency10.1
22hypoxia10.1
23pituitary apoplexy10.1PRL
24bipolar disorder10.0NOS1, TH
25septo-optic dysplasia10.0GH1, SOD1
26chromophobe adenoma10.0PRL, GH1
27mccune albright syndrome10.0GH1, PRL
28hypothalamic disease10.0PRL, GH1
29acromegaly10.0PRL, GH1
30empty sella syndrome10.0GH1, PRL
31acth-secreting pituitary adenoma10.0PRL, GH1
32gigantism10.0PRL, GH1
33thyrotropin deficiency, isolated10.0PRL, GH1
34pituitary gland disease10.0GH1, PRL
35metabolic syndrome x10.0GCH1, GH1, PTS, PAH
36panhypopituitarism10.0GH1, PRL
37acth deficiency10.0GH1, PRL
38cockayne syndrome10.0DHFR, HPRT1
39impotence10.0NOS1, PRL
40craniopharyngioma10.0PRL, GH1
41adrenal gland hyperfunction10.0GH1, PRL
42huntington's disease10.0TH, SOD1, NOS1
43growth hormone deficiency10.0GH1, PRL
44deficiency anemia10.0DHFR, HPRT1, NOS1
45precocious puberty10.0GH1, PRL
46mood disorder10.0NOS3, NOS1, TH
47arteriosclerosis10.0NOS3, SOD1
48mental retardation10.0TH, QDPR, HPRT1, PAH, PTS
49uremia10.0NOS3, SOD1, GH1
50amyotrophic lateral sclerosis10.0TH, NOS1, SOD1

Graphical network of the top 20 diseases related to Tetrahydrobiopterin Deficiency:



Diseases related to tetrahydrobiopterin deficiency

Symptoms for Tetrahydrobiopterin Deficiency

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Drugs & Therapeutics for Tetrahydrobiopterin Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Tetrahydrobiopterin Deficiency

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Anatomical Context for Tetrahydrobiopterin Deficiency

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34MalaCards
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MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

34
Endothelial, Brain

Animal Models for Tetrahydrobiopterin Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3PTS, PAH, HPRT1, PCBD1
2MP:00053678.2PAH, HPRT1, PCBD1, NOS1, NOS3
3MP:00053698.2NOS3, NOS1, HPRT1, SOD1, PTS
4MP:00107718.0TH, PTS, PAH, PRL, HPRT1, PCBD1
5MP:00053917.5TH, SOD1, PAH, HPRT1, PCBD1, NOS1
6MP:00053857.5TH, PTS, SOD1, HPRT1, NOS1, NOS3
7MP:00053787.4SPR, TH, PTS, PAH, HPRT1, GH1
8MP:00053707.0TH, SOD1, PRL, HPRT1, GH1, NOS1
9MP:00053796.8TH, PTS, SOD1, PRL, HPRT1, GH1
10MP:00053896.7PTS, SOD1, PAH, PRL, HPRT1, GH1
11MP:00053866.6SPR, TH, PTS, SOD1, PAH, PRL
12MP:00036316.1SOD1, PTS, TH, SPR, PAH, PRL
13MP:00053765.9NOS3, SPR, TH, PTS, SOD1, PAH

Publications for Tetrahydrobiopterin Deficiency

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53PubMed
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Articles related to Tetrahydrobiopterin Deficiency:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. (23138986)
2013
2
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. (23942198)
2013
3
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. (22832064)
2013
4
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. (21512164)
2011
5
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. (21416196)
2011
6
Autophagy induction by tetrahydrobiopterin deficiency. (21795851)
2011
7
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. (20458544)
2010
8
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency. (19322676)
2009
9
Tetrahydrobiopterin deficiency in human rabies. (18949578)
2009
10
Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. (18505119)
2008
11
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states. (17242981)
2007
12
Study on tetrahydrobiopterin deficiency in Northern Chinese population]. (16767663)
2006
13
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. (16275037)
2005
14
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury. (15774769)
2005
15
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. (15390004)
2004
16
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. (15159647)
2004
17
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. (15467010)
2004
18
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
2002
19
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. (11902126)
2002
20
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. (12358762)
2002
21
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
22
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. (10874306)
2000
23
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. (10765502)
2000
24
Impaired nitric oxide production in coronary endothelial cells of the spontaneously diabetic BB rat is due to tetrahydrobiopterin deficiency. (10861247)
2000
25
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. (9545000)
1998
26
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. (8864759)
1996
27
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. (8739973)
1996
28
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. (7542713)
1995
29
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. (8801112)
1995
30
Tetrahydrobiopterin-deficient nitric oxide synthase has a modified heme environment and forms a cytochrome P-420 analogue. (7539291)
1995
31
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. (7698774)
1994
32
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. (7967477)
1994
33
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. (7923811)
1994
34
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. (7508163)
1993
35
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency. (8304124)
1993
36
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (8326489)
1993
37
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. (7609463)
1993
38
Tetrahydrobiopterin deficiency and an international database of patients. (8304121)
1993
39
The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria. (1289568)
1992
40
Gastrointestinal serotonin: depletion due to tetrahydrobiopterin deficiency induced by 2,4-diamino-6-hydroxypyrimidine administration. (1825228)
1991
41
Early neurotoxicity of high-dose of methotrexate and tetrahydrobiopterin deficiency]. (1793349)
1991
42
A simple and sensitive method for the determination of pterins in cerebrospinal fluid. Clinical usefulness for management of tetrahydrobiopterin deficiency. (1779630)
1991
43
On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). (2646129)
1989
44
Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. (3276524)
1988
45
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. (3297709)
1987
46
A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency. (3088325)
1986
47
Differential diagnosis of tetrahydrobiopterin deficiency. (3930839)
1985
48
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. (3930840)
1985
49
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants. (6696496)
1984
50
A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin. (6820430)
1982

Variations for Tetrahydrobiopterin Deficiency

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Expression for genes affiliated with Tetrahydrobiopterin Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tetrahydrobiopterin Deficiency

Search GEO for disease gene expression data for Tetrahydrobiopterin Deficiency.

Pathways for genes affiliated with Tetrahydrobiopterin Deficiency

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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 52PharmGKB, 31KEGG, 5Cell Signaling Technology, 54QIAGEN
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Pathways related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV39
tetrahydrobiopterin salvage39
9.8QDPR, PAH
29.8DHFR, HPRT1
39.7PAH, TH
4
Show member pathways
catecholamine biosynthesis39
9.7PAH, TH
5
Show member pathways
Serotonin Transporter Activity39
9.5NOS1, TH
69.5SOD1, TH
7
Show member pathways
9.3NOS3, NOS1
89.3NOS3, NOS1
99.3NOS3, NOS1
10
Show member pathways
Quercetin and Nf-kB/ AP-1 induced cell apoptosis39
9.3NOS1, NOS3
119.2GH1, PRL
12
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.2QDPR, PCBD1, PAH, TH
139.1QDPR, GCH1, DHFR, PTS, SPR
149.0TH, SOD1, NOS1
15
Show member pathways
8.8SOD1, NOS1, NOS3
16
Show member pathways
8.8NOS3, NOS1, SOD1
17
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.8TH, PRL, GH1
18
Show member pathways
8.7SPR, PTS, DHFR, GCH1, NOS3
19
Show member pathways
8.1NOS3, NOS1, GH1, PRL
207.8NOS3, NOS1, DHFR, PRL, PAH
21
Show member pathways
6.5SPR, TH, PTS, PAH, DHFR, HPRT1

Compounds for genes affiliated with Tetrahydrobiopterin Deficiency

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46Novoseek, 25HMDB, 30IUPHAR, 52PharmGKB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 157)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate46 2511.0GCH1, SPR, PTS
27-biopterin469.9QDPR, PAH, PCBD1
3neopterin469.5QDPR, GCH1, PAH, PTS
44a-hydroxytetrahydrobiopterin46 2510.5TH, PCBD1, GCH1, PAH
5dihydrofolate469.4DHFR, QDPR, GCH1, PAH, SPR
6carbidopa46 3010.3PTS, TH, PRL
7catecholamine469.3QDPR, GCH1, PAH, PTS, TH
86-pyruvoyltetrahydropterin469.2SPR, TH, GCH1, PCBD1, QDPR, PTS
9ptio469.1NOS1, NOS3, SOD1
10Sapropterin259.0SPR, TH, QDPR, PAH, NOS3
11onoo469.0NOS1, SOD1, NOS3
12NADP258.8NOS3, NOS1, DHFR, SPR, QDPR
13allopurinol46 52 1210.8SOD1, NOS3, HPRT1, NOS1
14mitomycin c468.8NOS1, HPRT1, DHFR, TH
15phenylalanine468.8QDPR, GCH1, PCBD1, PAH, PTS, SPR
16gtp46 309.7PAH, SPR, TH, PTS, QDPR, GCH1
175-hydroxytryptophan468.7PTS, PRL, GH1, TH, QDPR
18opiate468.6GH1, HPRT1, PRL, TH
19melatonin46 30 62 25 1212.6GH1, PRL, PAH, SPR, GCH1
20l-nmma468.6NOS3, NOS1, GH1, SOD1
21morphine46 52 30 1211.6TH, NOS3, NOS1, HPRT1
22dihydropteridine46 259.5PAH, QDPR, SPR, TH, PTS, GCH1
23aspartate468.4PTS, GH1, PAH, DHFR, NOS1, TH
24glutamine468.4NOS1, PAH, DHFR, TH, HPRT1, GH1
25methotrexate52 46 1210.3DHFR, HPRT1, GH1, QDPR, NOS3, NOS1
26sodium nitroprusside468.3TH, SOD1, GH1, NOS3, NOS1
27corticosterone46 62 2510.3GH1, PRL, TH, NOS1
28pterin46 259.3PTS, PAH, TH, SPR, QDPR, NOS1
29epinephrine46 25 1210.2GCH1, GH1, PAH, TH, PRL
30folate468.2QDPR, NOS3, NOS1, PAH, DHFR, HPRT1
31ascorbic acid46 259.0DHFR, GCH1, NOS1, NOS3, PTS, SOD1
32pteridine468.0TH, SPR, PTS, GCH1, NOS1, NOS3
33nitric oxide46 25 1210.0NOS1, PTS, GCH1, SOD1, PAH, SPR
34acetylcholine46 52 30 25 1211.9NOS3, NOS1, GH1, TH, QDPR
35alanine467.9TH, QDPR, DHFR, NOS1, SOD1, PAH
36nadph46 258.8SOD1, DHFR, GCH1, NOS1, NOS3, PTS
37glutamate467.8HPRT1, TH, NOS1, NOS3, DHFR, SOD1
38tamoxifen46 52 30 1210.8NOS1, NOS3, PRL, HPRT1, GH1
39oxygen46 258.7NOS3, TH, PTS, SOD1, PAH, GCH1
40sepiapterin46 258.6SPR, TH, PTS, PAH, PCBD1, GCH1
41cysteine467.6GH1, NOS1, PAH, PTS, HPRT1, DHFR
42dihydrobiopterin46 258.6GCH1, NOS1, NOS3, QDPR, PCBD1, SPR
43levodopa46 128.5QDPR, GCH1, GH1, PRL, PAH, SOD1
44norepinephrine46 25 129.5SPR, GCH1, QDPR, GH1, NOS1, TH
45serine467.5NOS3, GH1, PTS, PAH, DHFR, HPRT1
46estrogen467.1NOS1, TH, PRL, NOS3, DHFR, GH1
47tetrahydrobiopterin46 25 128.8TH, PTS, SOD1, PAH, DHFR, PCBD1
48dopamine46 30 25 129.6HPRT1, GH1, GCH1, NOS1, QDPR, DHFR
49arginine466.4NOS3, NOS1, GH1, GCH1, HPRT1, DHFR
50h2o2466.3NOS3, NOS1, GCH1, PCBD1, GH1, HPRT1

GO Terms for genes affiliated with Tetrahydrobiopterin Deficiency

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17Gene Ontology
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Cellular components related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.1NOS1, GCH1, SOD1
2cytoplasmic vesicleGO:0314108.9TH, SOD1, GCH1
3cytoplasmGO:0057376.6SOD1, PTS, TH, SPR, HPRT1, PCBD1
4cytosolGO:0058296.3QDPR, SPR, TH, PTS, SOD1, PAH

Biological processes related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:04241610.0TH, GCH1
2catecholamine biosynthetic processGO:04242310.0TH, PAH
3L-phenylalanine catabolic processGO:0065599.9QDPR, PCBD1, PAH
4cellular amino acid metabolic processGO:0065209.7QDPR, PTS
5response to nutrient levelsGO:0316679.7SOD1, TH
6negative regulation of hydrolase activityGO:0513469.6NOS3, NOS1
7arginine catabolic processGO:0065279.6NOS3, NOS1
8positive regulation of guanylate cyclase activityGO:0312849.6NOS3, NOS1
9negative regulation of potassium ion transportGO:0432679.5NOS3, NOS1
10response to amphetamineGO:0019759.5HPRT1, SOD1, TH
11neurotransmitter biosynthetic processGO:0421369.5TH, PAH, NOS1
12tetrahydrobiopterin biosynthetic processGO:0067299.5QDPR, GCH1, PCBD1, PTS, SPR
13nitric oxide mediated signal transductionGO:0072639.5NOS1, NOS3
14locomotory behaviorGO:0076269.5HPRT1, SOD1, TH
15cellular nitrogen compound metabolic processGO:0346419.5QDPR, PCBD1, PAH, TH
16regulation of nitric-oxide synthase activityGO:0509999.4SPR, PTS, GCH1, NOS3
17nitric oxide metabolic processGO:0462099.4SPR, PTS, GCH1, NOS3
18positive regulation of JAK-STAT cascadeGO:0464279.4GH1, PRL
19negative regulation of blood pressureGO:0457769.4NOS3, NOS1, GCH1
20interaction with hostGO:0517019.3NOS3, NOS1
21regulation of blood pressureGO:0082179.3SOD1, GCH1, NOS3
22JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.3PRL, GH1
23positive regulation of vasodilationGO:0459099.2NOS3, NOS1
24nitric oxide biosynthetic processGO:0068099.1SPR, GCH1, NOS1, NOS3
25regulation of multicellular organism growthGO:0400149.1PRL, SOD1
26response to heatGO:0094089.1SOD1, NOS1, NOS3
27small molecule metabolic processGO:0442817.7SPR, TH, PTS, PAH, HPRT1, PCBD1

Molecular functions related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:0165979.7PAH, TH
2nitric-oxide synthase activityGO:0045179.5NOS1, NOS3
3arginine bindingGO:0346189.5NOS3, NOS1
4cadmium ion bindingGO:0468709.4NOS1, NOS3
5prolactin receptor bindingGO:0051489.4PRL, GH1
6NADPH-hemoprotein reductase activityGO:0039589.4NOS3, NOS1
7FMN bindingGO:0101819.3NOS3, NOS1
8NADP bindingGO:0506619.3NOS3, NOS1, SPR
9tetrahydrobiopterin bindingGO:0346179.2NOS3, NOS1, TH
10protein homodimerization activityGO:0428039.0PTS, SOD1, HPRT1, GCH1, QDPR
11iron ion bindingGO:0055068.9PAH, NOS1, NOS3
12protein bindingGO:0055155.9TH, SOD1, PRL, HPRT1, GH1, PCBD1

Products for genes affiliated with Tetrahydrobiopterin Deficiency

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Sources for Tetrahydrobiopterin 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