MCID: TTR005
MIFTS: 43

Tetrahydrobiopterin Deficiency malady

Rare diseases, Metabolic diseases categories

Aliases & Classifications for Tetrahydrobiopterin Deficiency

About this section

Aliases & Descriptions for Tetrahydrobiopterin Deficiency:

Name: Tetrahydrobiopterin Deficiency 64 42 21
Hyperphenylalaninemia, Non-Phenylketonuric 42 21 61
Non-Phenylketonuric Hyperphenylalaninemia 64 42 21
 
Bh4 Deficiency 64 42 21
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 42 21


Classifications:



Summaries for Tetrahydrobiopterin Deficiency

About this section
NIH Rare Diseases:42 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 based summary: Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia, non-phenylketonuric, is related to phenylketonuria and gtp cyclohydrolase i deficiency. 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 brain and endothelial, and related mouse phenotypes are pigmentation and renal/urinary system.

Genetics Home Reference:21 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:64 Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic... more...

Related Diseases for Tetrahydrobiopterin Deficiency

About this section

Diseases related to Tetrahydrobiopterin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria30.9PTS, PAH, QDPR
2gtp cyclohydrolase i deficiency30.4TH, PTS, GCH1, QDPR
3hyperphenylalaninemia30.1QDPR, SPR, TH, PTS, PAH, PCBD1
4hyperprolactinemia30.0GH1, PRL, TH
5atherosclerosis29.8PTS, SOD1, NOS1, NOS3
6segawa syndrome, recessive10.5TH
7neuroblastoma10.4TH
8tyrosinemia10.4PTS, PAH
9acute chest syndrome10.3NOS3
10endotheliitis10.3
11parkinson disease, late-onset10.3GCH1, TH
12movement disease10.3TH, GCH1
13hyperphenylalaninemia, bh4-deficient, a10.3
14pituitary apoplexy10.3PRL
15bipolar disorder10.2TH, NOS1
16neurotic disorder10.2TH, NOS1
17septooptic dysplasia10.2SOD1, GH1
18hyperphenylalaninemia, bh4-deficient, d10.1
19chromophobe adenoma10.1PRL, GH1
20mccune-albright syndrome, somatic, mosaic10.1GH1, PRL
21neuronitis10.1
22gastroparesis10.1
23rabies10.1
24dystonia10.1
25hyperphenylalaninemia due to dehydratase deficiency10.1
26hypoxia10.1
27pituitary gigantism10.1PRL, GH1
28hypothalamic disease10.1PRL, GH1
29empty sella syndrome10.1PRL, GH1
30pituitary-dependent cushing's disease10.1PRL, GH1
31oligomenorrhea10.1PRL, GH1
32gigantism10.1PRL, GH1
33hypothryoidism, congenital, nongoitrous 410.1PRL, GH1
34pituitary gland disease10.1PRL, GH1
35prostatic hypertrophy10.1PRL, GH1
36metabolic syndrome x10.1GCH1, GH1, PAH, PTS
37pituitary hormone deficiency, combined, 210.1PRL, GH1
38acth deficiency10.0GH1, PRL
39impotence10.0PRL, NOS1
40cockayne syndrome10.0HPRT1, DHFR
41craniopharyngioma10.0PRL, GH1
42adrenal gland hyperfunction10.0GH1, PRL
43huntington disease10.0NOS1, SOD1, TH
44growth hormone deficiency10.0GH1, PRL
45deficiency anemia10.0NOS1, HPRT1, DHFR
46precocious puberty10.0GH1, PRL
47mood disorder10.0NOS3, NOS1, TH
48arteriosclerosis10.0NOS3, SOD1
49mental retardation10.0TH, PTS, PAH, HPRT1, QDPR
50uremia10.0SOD1, GH1, NOS3

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



Diseases related to tetrahydrobiopterin deficiency

Symptoms for Tetrahydrobiopterin Deficiency

About this section

Drugs & Therapeutics for Tetrahydrobiopterin Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Tetrahydrobiopterin Deficiency

Search NIH Clinical Center for Tetrahydrobiopterin Deficiency

Genetic Tests for Tetrahydrobiopterin Deficiency

About this section

Anatomical Context for Tetrahydrobiopterin Deficiency

About this section

MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

31
Brain, Endothelial

Animal Models for Tetrahydrobiopterin Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

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

Publications for Tetrahydrobiopterin Deficiency

About this section

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. (25418970)
2015
2
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. (23138986)
2013
3
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. (24497712)
2013
4
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. (23942198)
2013
5
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. (22832064)
2013
6
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. (21512164)
2011
7
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. (21416196)
2011
8
Autophagy induction by tetrahydrobiopterin deficiency. (21795851)
2011
9
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. (20458544)
2010
10
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
11
Tetrahydrobiopterin deficiency in human rabies. (18949578)
2009
12
Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. (18505119)
2008
13
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
14
Study on tetrahydrobiopterin deficiency in Northern Chinese population]. (16767663)
2006
15
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. (16275037)
2005
16
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury. (15774769)
2005
17
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. (15390004)
2004
18
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. (15159647)
2004
19
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. (15467010)
2004
20
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
2002
21
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. (11902126)
2002
22
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. (12358762)
2002
23
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
24
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. (10874306)
2000
25
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. (10765502)
2000
26
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. (9545000)
1998
27
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. (8864759)
1996
28
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. (8739973)
1996
29
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. (7542713)
1995
30
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. (8801112)
1995
31
Tetrahydrobiopterin-deficient nitric oxide synthase has a modified heme environment and forms a cytochrome P-420 analogue. (7539291)
1995
32
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. (7698774)
1994
33
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. (7967477)
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

About this section

Expression for genes affiliated with Tetrahydrobiopterin Deficiency

About this section
Search GEO for disease gene expression data for Tetrahydrobiopterin Deficiency.

Pathways for genes affiliated with Tetrahydrobiopterin Deficiency

About this section

Pathways related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV36
tetrahydrobiopterin salvage36
9.8PAH, QDPR
29.8HPRT1, DHFR
39.7PAH, TH
4
Show member pathways
catecholamine biosynthesis36
9.7PAH, TH
5
Show member pathways
Serotonin Transporter Activity36
9.5TH, NOS1
69.5SOD1, TH
79.3NOS1, NOS3
8
Show member pathways
9.3NOS3, NOS1
99.3NOS3, NOS1
10
Show member pathways
Quercetin and Nf-kB/ AP-1 induced cell apoptosis36
9.3NOS1, NOS3
119.2GH1, PRL
12
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.2PCBD1, TH, PAH, QDPR
139.1GCH1, SPR, QDPR, PTS, DHFR
149.0NOS1, SOD1, TH
15
Show member pathways
8.8SOD1, NOS3, NOS1
16
Show member pathways
8.8SOD1, NOS1, NOS3
17
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling59
Leptin signaling pathway36
8.8GH1, PRL, TH
18
Show member pathways
8.7NOS3, DHFR, GCH1, PTS, SPR
19
Show member pathways
8.1PRL, NOS3, NOS1, GH1
207.8NOS3, NOS1, DHFR, PRL, PAH
21
Show member pathways
6.5NOS3, HPRT1, DHFR, PTS, GCH1, TH

Compounds for genes affiliated with Tetrahydrobiopterin Deficiency

About this section

Compounds related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 157)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate44 2411.0GCH1, SPR, PTS
27-biopterin449.9QDPR, PAH, PCBD1
3neopterin449.5QDPR, GCH1, PAH, PTS
44a-hydroxytetrahydrobiopterin44 2410.5TH, PCBD1, GCH1, PAH
5dihydrofolate449.4DHFR, QDPR, GCH1, PAH, SPR
6carbidopa44 2810.3PTS, TH, PRL
7catecholamine449.3QDPR, GCH1, PAH, PTS, TH
86-pyruvoyltetrahydropterin449.2SPR, TH, GCH1, PCBD1, QDPR, PTS
9ptio449.1NOS1, NOS3, SOD1
10Sapropterin249.0SPR, TH, QDPR, PAH, NOS3
11onoo449.0NOS1, SOD1, NOS3
12NADP248.8NOS3, NOS1, DHFR, SPR, QDPR
13allopurinol44 50 1110.8SOD1, NOS3, HPRT1, NOS1
14mitomycin c448.8NOS1, HPRT1, DHFR, TH
15phenylalanine448.8QDPR, GCH1, PCBD1, PAH, PTS, SPR
16gtp44 289.7PAH, SPR, TH, PTS, QDPR, GCH1
175-hydroxytryptophan448.7PTS, PRL, GH1, TH, QDPR
18opiate448.6GH1, HPRT1, PRL, TH
19melatonin44 28 60 24 1112.6GH1, PRL, PAH, SPR, GCH1
20l-nmma448.6NOS3, NOS1, GH1, SOD1
21morphine44 50 28 1111.6TH, NOS3, NOS1, HPRT1
22dihydropteridine44 249.5PAH, QDPR, SPR, TH, PTS, GCH1
23aspartate448.4PTS, GH1, PAH, DHFR, NOS1, TH
24glutamine448.4NOS1, PAH, DHFR, TH, HPRT1, GH1
25methotrexate50 44 1110.3DHFR, HPRT1, GH1, QDPR, NOS3, NOS1
26sodium nitroprusside448.3TH, SOD1, GH1, NOS3, NOS1
27corticosterone44 60 2410.3GH1, PRL, TH, NOS1
28pterin44 249.3PTS, PAH, TH, SPR, QDPR, NOS1
29epinephrine44 24 1110.2GCH1, GH1, PAH, TH, PRL
30folate448.2QDPR, NOS3, NOS1, PAH, DHFR, HPRT1
31ascorbic acid44 249.0DHFR, GCH1, NOS1, NOS3, PTS, SOD1
32pteridine448.0TH, SPR, PTS, GCH1, NOS1, NOS3
33nitric oxide44 24 1110.0NOS1, PTS, GCH1, SOD1, PAH, SPR
34acetylcholine44 50 28 24 1111.9NOS3, NOS1, GH1, TH, QDPR
35alanine447.9TH, QDPR, DHFR, NOS1, SOD1, PAH
36nadph44 248.8SOD1, DHFR, GCH1, NOS1, NOS3, PTS
37glutamate447.8HPRT1, TH, NOS1, NOS3, DHFR, SOD1
38tamoxifen44 50 28 1110.8NOS1, NOS3, PRL, HPRT1, GH1
39oxygen44 248.7NOS3, TH, PTS, SOD1, PAH, GCH1
40sepiapterin44 248.6SPR, TH, PTS, PAH, PCBD1, GCH1
41cysteine447.6GH1, NOS1, PAH, PTS, HPRT1, DHFR
42dihydrobiopterin44 248.6GCH1, NOS1, NOS3, QDPR, PCBD1, SPR
43levodopa44 118.5QDPR, GCH1, GH1, PRL, PAH, SOD1
44norepinephrine44 24 119.5SPR, GCH1, QDPR, GH1, NOS1, TH
45serine447.5NOS3, GH1, PTS, PAH, DHFR, HPRT1
46estrogen447.1NOS1, TH, PRL, NOS3, DHFR, GH1
47tetrahydrobiopterin44 24 118.8TH, PTS, SOD1, PAH, DHFR, PCBD1
48dopamine44 28 24 119.6HPRT1, GH1, GCH1, NOS1, QDPR, DHFR
49arginine446.4NOS3, NOS1, GH1, GCH1, HPRT1, DHFR
50h2o2446.3NOS3, NOS1, GCH1, PCBD1, GH1, HPRT1

GO Terms for genes affiliated with Tetrahydrobiopterin Deficiency

About this section

Cellular components related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.1NOS1, GCH1, SOD1
2cytoplasmic vesicleGO:00314108.9TH, SOD1, GCH1
3cytoplasmGO:00057376.6SOD1, PTS, TH, SPR, HPRT1, PCBD1
4cytosolGO:00058296.3QDPR, SPR, TH, PTS, SOD1, PAH

Biological processes related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:004241610.0TH, GCH1
2catecholamine biosynthetic processGO:004242310.0TH, PAH
3L-phenylalanine catabolic processGO:00065599.9PAH, QDPR, PCBD1
4cellular amino acid metabolic processGO:00065209.7QDPR, PTS
5response to nutrient levelsGO:00316679.7SOD1, TH
6negative regulation of hydrolase activityGO:00513469.6NOS3, NOS1
7positive regulation of guanylate cyclase activityGO:00312849.6NOS3, NOS1
8arginine catabolic processGO:00065279.6NOS3, NOS1
9negative regulation of potassium ion transportGO:00432679.5NOS1, NOS3
10response to amphetamineGO:00019759.5SOD1, HPRT1, TH
11neurotransmitter biosynthetic processGO:00421369.5TH, PAH, NOS1
12tetrahydrobiopterin biosynthetic processGO:00067299.5SPR, PTS, PCBD1, GCH1, QDPR
13nitric oxide mediated signal transductionGO:00072639.5NOS3, NOS1
14locomotory behaviorGO:00076269.5SOD1, TH, HPRT1
15cellular nitrogen compound metabolic processGO:00346419.5PCBD1, QDPR, TH, PAH
16regulation of nitric-oxide synthase activityGO:00509999.4SPR, NOS3, PTS, GCH1
17nitric oxide metabolic processGO:00462099.4NOS3, SPR, PTS, GCH1
18positive regulation of JAK-STAT cascadeGO:00464279.4GH1, PRL
19negative regulation of blood pressureGO:00457769.4NOS3, NOS1, GCH1
20positive regulation of vasodilationGO:00459099.3NOS3, NOS1
21regulation of blood pressureGO:00082179.3SOD1, NOS3, GCH1
22interaction with hostGO:00517019.3NOS3, NOS1
23JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.3GH1, PRL
24nitric oxide biosynthetic processGO:00068099.1SPR, GCH1, NOS1, NOS3
25response to heatGO:00094089.1SOD1, NOS1, NOS3
26regulation of multicellular organism growthGO:00400149.0SOD1, PRL
27small molecule metabolic processGO:00442817.7HPRT1, TH, PTS, PCBD1, GCH1, SPR

Molecular functions related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.7PAH, TH
2nitric-oxide synthase activityGO:00045179.5NOS1, NOS3
3arginine bindingGO:00346189.5NOS3, NOS1
4cadmium ion bindingGO:00468709.4NOS1, NOS3
5prolactin receptor bindingGO:00051489.4PRL, GH1
6NADPH-hemoprotein reductase activityGO:00039589.4NOS3, NOS1
7FMN bindingGO:00101819.3NOS3, NOS1
8NADP bindingGO:00506619.3NOS3, NOS1, SPR
9tetrahydrobiopterin bindingGO:00346179.2NOS3, NOS1, TH
10protein homodimerization activityGO:00428039.0PTS, SOD1, HPRT1, GCH1, QDPR
11iron ion bindingGO:00055068.9PAH, NOS1, NOS3
12protein bindingGO:00055155.9TH, SOD1, PRL, HPRT1, GH1, PCBD1

Sources for Tetrahydrobiopterin Deficiency

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet