MCID: TTR005
MIFTS: 48

Tetrahydrobiopterin Deficiency

Categories: Blood diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tetrahydrobiopterin Deficiency

MalaCards integrated aliases for Tetrahydrobiopterin Deficiency:

Name: Tetrahydrobiopterin Deficiency 77 54 26
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 54 60 30 6
Hyperphenylalaninemia, Non-Phenylketonuric 54 26 74
Non-Phenylketonuric Hyperphenylalaninemia 54 26 60
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 54 26
Hyperphenylalaninemia Due to Bh4 Deficiency 54 60
Bh4 Deficiency 54 26

Characteristics:

Orphanet epidemiological data:

60
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 E70.1
UMLS via Orphanet 75 C0751435 C0751436
Orphanet 60 ORPHA238583
UMLS 74 C0751436

Summaries for Tetrahydrobiopterin Deficiency

NIH Rare Diseases : 54 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 acidphenylalanine, 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.

MalaCards based summary : Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia due to tetrahydrobiopterin deficiency, is related to hyperphenylalaninemia, bh4-deficient, b and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Tetrahydrobiopterin Deficiency is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Metabolism and Prolactin Signaling Pathway. The drugs Verapamil and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 26 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 : 77 Tetrahydrobiopterin deficiency (THBD, BH4D), is a rare metabolic disorder that increases the blood... more...

Related Diseases for Tetrahydrobiopterin Deficiency

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 32.8 GCH1 PTS QDPR TH
2 hyperphenylalaninemia, bh4-deficient, a 32.4 GCH1 PAH PCBD1 PRL PTS QDPR
3 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 30.1 GCH1 QDPR SPR
4 classic phenylketonuria 30.1 PAH PTS QDPR
5 phenylketonuria 30.0 GCH1 PAH PTS QDPR TH
6 hyperphenylalaninemia 28.6 GCH1 NOS1 PAH PCBD1 PTS QDPR
7 hyperphenylalaninemia due to dehydratase deficiency 11.8
8 hyperphenylalaninemia, bh4-deficient, c 11.6
9 hyperphenylalaninemia, bh4-deficient, d 11.4
10 megaloblastic anemia due to dihydrofolate reductase deficiency 11.2
11 cerebral folate deficiency 10.3 DHFR QDPR
12 intestinal perforation 10.3 NOS1 PTS
13 keratomalacia 10.3 PAH QDPR
14 hereditary dystonia 10.2 GCH1 TH
15 segawa syndrome, autosomal recessive 10.2 GCH1 TH
16 vasculogenic impotence 10.2 NOS3 PTS
17 dyskinetic cerebral palsy 10.1 HPRT1 PTS
18 jejunoileitis 10.1 NOS1 NOS3
19 dystonia 1, torsion, autosomal dominant 10.1 GCH1 TH
20 fibrous dysplasia/mccune-albright syndrome 10.1 GH1 PRL
21 adenohypophysitis 10.1 GH1 PRL
22 pseudohypoparathyroidism, type ia 10.1 GH1 PRL
23 hypothalamic disease 10.0 GH1 PRL
24 dystonia, dopa-responsive 10.0 GCH1 SPR TH
25 gigantism 10.0 GH1 PRL
26 empty sella syndrome 10.0 GH1 PRL
27 hyperpituitarism 10.0 GH1 PRL
28 tsh producing pituitary tumor 10.0 GH1 PRL
29 functioning pituitary adenoma 10.0 GH1 PRL
30 mild hyperphenylalaninemia 10.0 PAH PCBD1 PTS QDPR
31 pituitary adenoma 1, multiple types 9.9 GH1 PRL
32 fabry disease 9.9
33 hyperprolactinemia 9.9
34 diabetes mellitus 9.9
35 rabies 9.9
36 gastroparesis 9.9
37 dystonia 9.9
38 hypoxia 9.9
39 hypothyroidism, congenital, nongoitrous, 4 9.9 GH1 PRL
40 chromophobe adenoma 9.9 GH1 PRL
41 sexual disorder 9.8 NOS1 NOS3 PRL
42 impotence 9.8 NOS1 NOS3 PRL
43 toxic myocarditis 9.8 NOS3 SOD1
44 renovascular hypertension 9.8 NOS1 NOS3
45 pituitary stalk interruption syndrome 9.8 GH1 PRL
46 parkinson disease, late-onset 9.4 GCH1 NOS1 SOD1 SPR TH

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



Diseases related to Tetrahydrobiopterin Deficiency

Symptoms & Phenotypes for Tetrahydrobiopterin Deficiency

GenomeRNAi Phenotypes related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

27 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.84 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.84 DHFR GH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.84 DHFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.84 PTS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.84 PTS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.84 DHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 SOD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.84 GH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.84 GH1 SOD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.84 DHFR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.84 GH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.84 GH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.84 DHFR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.84 PTS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.84 DHFR SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.84 DHFR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.84 GH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.84 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.84 SOD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.84 SOD1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 PTS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.84 SOD1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.84 DHFR GH1 PTS SOD1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.84 SOD1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.84 SOD1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.84 PTS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.84 GH1

MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
2 behavior/neurological MP:0005386 10.18 HPRT1 NOS1 NOS3 PAH PRL PTS
3 growth/size/body region MP:0005378 10.13 DHFR HPRT1 NOS1 NOS3 PAH PTS
4 cardiovascular system MP:0005385 10.11 DHFR GCH1 HPRT1 NOS1 NOS3 PTS
5 mortality/aging MP:0010768 10.07 DHFR GCH1 HPRT1 NOS1 NOS3 PTS
6 endocrine/exocrine gland MP:0005379 10.04 HPRT1 NOS1 NOS3 PRL PTS SOD1
7 integument MP:0010771 10.03 DHFR HPRT1 PAH PCBD1 PRL PTS
8 nervous system MP:0003631 9.96 GCH1 HPRT1 NOS1 NOS3 PAH PRL
9 liver/biliary system MP:0005370 9.95 DHFR HPRT1 NOS1 NOS3 PRL SOD1
10 muscle MP:0005369 9.8 DHFR HPRT1 NOS1 NOS3 PTS SOD1
11 reproductive system MP:0005389 9.5 HPRT1 NOS1 NOS3 PAH PRL PTS
12 pigmentation MP:0001186 9.46 HPRT1 PAH PCBD1 PTS
13 vision/eye MP:0005391 9.17 HPRT1 NOS1 NOS3 PAH PCBD1 SOD1

Drugs & Therapeutics for Tetrahydrobiopterin Deficiency

Drugs for Tetrahydrobiopterin Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 2 52-53-9 2520
2
Nitric Oxide Approved Phase 2 10102-43-9 145068
3
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
4
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 54670067 5785
5 Vasodilator Agents Phase 2
6 Anti-Arrhythmia Agents Phase 2
7 Calcium, Dietary Phase 2
8 phenylalanine Phase 2
9 calcium channel blockers Phase 2
10 Hormones Phase 2
11 Protective Agents Phase 2
12 Vitamins Phase 2
13 Trace Elements Phase 2
14 Nutrients Phase 2
15 Antioxidants Phase 2
16 Micronutrients Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
2 A Phase 2, Pharmacokinetic Study of the Effects of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction Completed NCT00532844 Phase 2 6R-BH4 (sapropterin dihydrochloride);6R-BH4 (sapropterin dihydrochloride)
3 A Study of the Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic Hypertension Completed NCT00325962 Phase 2 6R-BH4 (sapropterin dihydrochloride)
4 A Study of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
5 Retrospective Observational Safety Effectiveness With Kuvan in hpA Completed NCT03864029 KUVAN
6 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency Active, not recruiting NCT01016392

Search NIH Clinical Center for Tetrahydrobiopterin Deficiency

Genetic Tests for Tetrahydrobiopterin Deficiency

Genetic tests related to Tetrahydrobiopterin Deficiency:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 30

Anatomical Context for Tetrahydrobiopterin Deficiency

MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

42
Brain, Pituitary, Endothelial

Publications for Tetrahydrobiopterin Deficiency

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50) (show all 67)
# Title Authors Year
1
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China. ( 30221392 )
2019
2
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients. ( 30001213 )
2018
3
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. ( 28158561 )
2017
4
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. ( 28915855 )
2017
5
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension. ( 26276526 )
2016
6
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency. ( 26515614 )
2016
7
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency. ( 27562098 )
2016
8
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
9
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. ( 25304915 )
2015
10
Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. ( 23639814 )
2013
11
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. ( 22832064 )
2013
12
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. ( 23138986 )
2013
13
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. ( 24497712 )
2013
14
Dihydrofolate reductase protects endothelial nitric oxide synthase from uncoupling in tetrahydrobiopterin deficiency. ( 21402147 )
2011
15
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. ( 21416196 )
2011
16
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. ( 21512164 )
2011
17
Autophagy induction by tetrahydrobiopterin deficiency. ( 21795851 )
2011
18
Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. ( 30780801 )
2010
19
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. ( 20458544 )
2010
20
Tetrahydrobiopterin deficiency in human rabies. ( 18949578 )
2009
21
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
22
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. ( 19534905 )
2009
23
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. ( 18060820 )
2008
24
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. ( 18505119 )
2008
25
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
26
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus. ( 17679617 )
2007
27
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. ( 16767663 )
2006
28
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury. ( 15774769 )
2005
29
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. ( 15159647 )
2004
30
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. ( 15390004 )
2004
31
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. ( 15467010 )
2004
32
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. ( 11940335 )
2002
33
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. ( 11902126 )
2002
34
Cranial MR spectroscopy of tetrahydrobiopterin deficiency. ( 12063241 )
2002
35
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. ( 12358762 )
2002
36
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. ( 11937441 )
2002
37
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. ( 10765502 )
2000
38
Impaired nitric oxide production in coronary endothelial cells of the spontaneously diabetic BB rat is due to tetrahydrobiopterin deficiency. ( 10861247 )
2000
39
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. ( 10874306 )
2000
40
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. ( 9545000 )
1998
41
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. ( 8739973 )
1996
42
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. ( 8864759 )
1996
43
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. ( 7542713 )
1995
44
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. ( 8801112 )
1995
45
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. ( 7923811 )
1994
46
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. ( 7967477 )
1994
47
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. ( 7508163 )
1993
48
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. ( 7609463 )
1993
49
Tetrahydrobiopterin deficiency and an international database of patients. ( 8304121 )
1993
50
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency. ( 8304124 )
1993

Variations for Tetrahydrobiopterin Deficiency

ClinVar genetic disease variations for Tetrahydrobiopterin Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GCH1 NM_000161.2(GCH1): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs56127440 GRCh37 Chromosome 14, 55369176: 55369176
2 GCH1 NM_000161.2(GCH1): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs56127440 GRCh38 Chromosome 14, 54902458: 54902458

Expression for Tetrahydrobiopterin Deficiency

Search GEO for disease gene expression data for Tetrahydrobiopterin Deficiency.

Pathways for Tetrahydrobiopterin Deficiency

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
2
Show member pathways
12.12 GH1 NOS3 PRL TH
3
Show member pathways
11.72 PAH PCBD1 QDPR
4
Show member pathways
11.2 NOS1 NOS3 SOD1
5 10.98 NOS1 NOS3
6
Show member pathways
10.94 NOS1 NOS3
7
Show member pathways
10.93 NOS1 NOS3 SOD1
8 10.89 NOS1 NOS3
9
Show member pathways
10.84 PAH TH
10 10.76 DHFR HPRT1
11
Show member pathways
10.69 DHFR GCH1 PAH PCBD1 PTS QDPR
12 10.58 SOD1 TH
13 10.52 NOS1 NOS3
14 10.22 NOS1 NOS3

GO Terms for Tetrahydrobiopterin Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 DHFR GCH1 HPRT1 NOS1 NOS3 PCBD1
2 cytosol GO:0005829 9.4 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
3 vesicle membrane GO:0012506 9.26 NOS1 NOS3
4 endosome lumen GO:0031904 8.96 GH1 PRL

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.8 HPRT1 SOD1 TH
2 regulation of blood pressure GO:0008217 9.73 GCH1 NOS3 SOD1
3 response to nutrient levels GO:0031667 9.71 GH1 PRL SOD1 TH
4 response to heat GO:0009408 9.7 NOS1 NOS3 SOD1
5 response to amphetamine GO:0001975 9.69 HPRT1 SOD1 TH
6 regulation of multicellular organism growth GO:0040014 9.67 PRL SOD1
7 positive regulation of JAK-STAT cascade GO:0046427 9.67 GH1 PRL
8 positive regulation of nitric-oxide synthase activity GO:0051000 9.66 DHFR GCH1
9 regulation of nitric-oxide synthase activity GO:0050999 9.66 NOS3 SPR
10 regulation of sodium ion transport GO:0002028 9.65 NOS1 NOS3
11 nitric oxide mediated signal transduction GO:0007263 9.65 NOS1 NOS3
12 response to ethanol GO:0045471 9.65 SOD1 TH
13 negative regulation of blood pressure GO:0045776 9.65 GCH1 NOS1 NOS3
14 negative regulation of calcium ion transport GO:0051926 9.64 NOS1 NOS3
15 response to estradiol GO:0032355 9.64 GH1 TH
16 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.63 GH1 PRL
17 removal of superoxide radicals GO:0019430 9.63 NOS3 SOD1
18 vasodilation GO:0042311 9.63 GCH1 NOS1 NOS3
19 dopamine biosynthetic process GO:0042416 9.62 GCH1 TH
20 response to lipopolysaccharide GO:0032496 9.62 GCH1 NOS1 NOS3 TH
21 negative regulation of potassium ion transport GO:0043267 9.61 NOS1 NOS3
22 positive regulation of guanylate cyclase activity GO:0031284 9.61 NOS1 NOS3
23 neurotransmitter biosynthetic process GO:0042136 9.61 NOS1 PAH TH
24 oxidation-reduction process GO:0055114 9.61 DHFR NOS1 NOS3 PAH PCBD1 QDPR
25 aromatic amino acid family metabolic process GO:0009072 9.6 PAH TH
26 arginine catabolic process GO:0006527 9.58 NOS1 NOS3
27 negative regulation of hydrolase activity GO:0051346 9.58 NOS1 NOS3
28 regulation of removal of superoxide radicals GO:2000121 9.57 DHFR GCH1
29 nitric oxide biosynthetic process GO:0006809 9.56 GCH1 NOS1 NOS3 SPR
30 catecholamine biosynthetic process GO:0042423 9.55 PAH TH
31 tetrahydrofolate biosynthetic process GO:0046654 9.54 DHFR GCH1
32 L-phenylalanine catabolic process GO:0006559 9.54 PAH PCBD1 QDPR
33 dihydrobiopterin metabolic process GO:0051066 9.49 GCH1 QDPR
34 cofactor metabolic process GO:0051186 9.46 GCH1 NOS3 PTS SPR
35 multicellular organismal response to stress GO:0033555 9.29 NOS1
36 tetrahydrobiopterin biosynthetic process GO:0006729 9.1 DHFR GCH1 PCBD1 PTS QDPR SPR

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.93 GCH1 HPRT1 PTS QDPR SOD1
2 FMN binding GO:0010181 9.52 NOS1 NOS3
3 NADPH binding GO:0070402 9.49 DHFR QDPR
4 arginine binding GO:0034618 9.48 NOS1 NOS3
5 NADPH-hemoprotein reductase activity GO:0003958 9.46 NOS1 NOS3
6 NADP binding GO:0050661 9.46 DHFR NOS1 NOS3 SPR
7 cadmium ion binding GO:0046870 9.43 NOS1 NOS3
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 9.4 PAH TH
9 nitric-oxide synthase activity GO:0004517 9.37 NOS1 NOS3
10 phenylalanine 4-monooxygenase activity GO:0004505 9.32 PAH PCBD1
11 prolactin receptor binding GO:0005148 9.26 GH1 PRL
12 oxidoreductase activity GO:0016491 9.23 DHFR NOS1 NOS3 PAH QDPR SOD1
13 tetrahydrobiopterin binding GO:0034617 9.13 NOS1 NOS3 TH
14 metal ion binding GO:0046872 10.16 GCH1 GH1 HPRT1 NOS1 NOS3 PAH

Sources for Tetrahydrobiopterin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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