MCID: TTR005
MIFTS: 44

Tetrahydrobiopterin Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Tetrahydrobiopterin Deficiency

MalaCards integrated aliases for Tetrahydrobiopterin Deficiency:

Name: Tetrahydrobiopterin Deficiency 72 49 24
Hyperphenylalaninemia, Non-Phenylketonuric 49 24 69
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 49 24
Non-Phenylketonuric Hyperphenylalaninemia 49 24
Bh4 Deficiency 49 24

Classifications:



External Ids:

UMLS 69 C0751436

Summaries for Tetrahydrobiopterin Deficiency

NIH Rare Diseases : 49 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. Last updated: 11/2/2012

MalaCards based summary : Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia, non-phenylketonuric, is related to hyperphenylalaninemia, bh4-deficient, b and phenylketonuria. 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 Nitric Oxide and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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.

Related Diseases for Tetrahydrobiopterin Deficiency

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 32.4 GCH1 PTS QDPR TH
2 phenylketonuria 29.4 GCH1 PAH PTS QDPR TH
3 hyperphenylalaninemia 28.0 GCH1 NOS1 PAH PCBD1 PTS QDPR
4 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 12.2
5 hyperphenylalaninemia, bh4-deficient, a 12.0
6 hyperphenylalaninemia due to dehydratase deficiency 11.6
7 hyperphenylalaninemia, bh4-deficient, d 11.2
8 hyperphenylalaninemia, bh4-deficient, c 11.1
9 megaloblastic anemia due to dihydrofolate reductase deficiency 11.0
10 cerebral folate deficiency 10.5 DHFR QDPR
11 intestinal perforation 10.4 NOS1 PTS
12 cranio-facial dystonia 10.3 GCH1 PTS
13 vasculogenic impotence 10.3 NOS3 PTS
14 lymphedema, hereditary, ii 10.3 GCH1 PTS
15 acute chest syndrome 10.2 NOS1 NOS3
16 segawa syndrome, autosomal recessive 10.2 GCH1 TH
17 jejunoileitis 10.2 NOS1 NOS3
18 hereditary dystonia 10.2 GCH1 TH
19 classic phenylketonuria 10.2 PAH PTS QDPR
20 dyskinetic cerebral palsy 10.2 HPRT1 PTS
21 keratomalacia 10.1 PAH QDPR
22 head injury 10.0 PRL SOD1
23 endotheliitis 10.0
24 social phobia 10.0 PRL SOD1
25 dystonia, dopa-responsive 10.0 GCH1 SPR TH
26 sexual disorder 10.0 NOS1 NOS3 PRL
27 impotence 10.0 NOS1 NOS3 PRL
28 mild hyperphenylalaninemia 9.9 PAH PCBD1 PTS QDPR
29 dystonia 1, torsion, autosomal dominant 9.9 GCH1 TH
30 fibrous dysplasia/mccune-albright syndrome 9.9 GH1 PRL
31 tsh producing pituitary tumor 9.9 GH1 PRL
32 adenohypophysitis 9.9 GH1 PRL
33 pseudohypoparathyroidism, type ia 9.8 GH1 PRL
34 hypothalamic disease 9.8 GH1 PRL
35 pituitary adenoma 1, multiple types 9.8 GH1 PRL
36 gigantism 9.8 GH1 PRL
37 empty sella syndrome 9.8 GH1 PRL
38 hyperpituitarism 9.8 GH1 PRL
39 hypothyroidism, congenital, nongoitrous, 4 9.8 GH1 PRL
40 fabry disease 9.7
41 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 9.7
42 hyperprolactinemia 9.7
43 diabetes mellitus 9.7
44 rabies 9.7
45 gastroparesis 9.7
46 dystonia 9.7
47 neuronitis 9.7
48 hypoxia 9.7
49 functioning pituitary adenoma 9.7 GH1 PRL
50 pituitary stalk interruption syndrome 9.5 GH1 PRL

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:

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.83 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.83 DHFR GH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.83 DHFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.83 PTS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.83 PTS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.83 DHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.83 SOD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.83 GH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.83 SOD1 GH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.83 DHFR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.83 GH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 GH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 DHFR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.83 PTS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.83 DHFR SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.83 DHFR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.83 GH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.83 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.83 SOD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.83 SOD1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 PTS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.83 SOD1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.83 SOD1 DHFR GH1 PTS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.83 SOD1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.83 PTS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.83 GH1

MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

43 (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 NOS1 NOS3 PAH PTS SOD1 SPR
4 cardiovascular system MP:0005385 10.11 PTS SOD1 TH HPRT1 NOS1 NOS3
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 PCBD1 PRL PTS SOD1 TH DHFR
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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2 10102-43-9 145068
2
Verapamil Approved Phase 2 52-53-9 2520
3
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 54670067 5785
4 calcium channel blockers Phase 2
5 Micronutrients Phase 2
6 Trace Elements Phase 2
7 Vasodilator Agents Phase 2
8 Vitamins Phase 2
9 Anti-Arrhythmia Agents Phase 2
10 Protective Agents Phase 2
11 Antioxidants Phase 2
12 Calcium, Dietary Phase 2
13 phenylalanine Nutraceutical 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 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

Anatomical Context for Tetrahydrobiopterin Deficiency

MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

38
Brain, Endothelial

Publications for Tetrahydrobiopterin Deficiency

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50) (show all 72)
# Title Authors Year
1
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. ( 28915855 )
2017
2
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. ( 28158561 )
2017
3
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency. ( 27562098 )
2016
4
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
5
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension. ( 26276526 )
2015
6
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency. ( 26515614 )
2015
7
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. ( 25304915 )
2014
8
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. ( 23942198 )
2013
9
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. ( 24497712 )
2013
10
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. ( 23138986 )
2013
11
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. ( 22832064 )
2013
12
Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. ( 23639814 )
2013
13
Autophagy induction by tetrahydrobiopterin deficiency. ( 21795851 )
2011
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
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. ( 20458544 )
2010
18
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. ( 19534905 )
2009
19
Tetrahydrobiopterin deficiency in human rabies. ( 18949578 )
2009
20
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
21
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. ( 18060820 )
2008
22
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. ( 18505119 )
2008
23
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus. ( 17679617 )
2007
24
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
25
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. ( 16767663 )
2006
26
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. ( 16275037 )
2005
27
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury. ( 15774769 )
2005
28
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. ( 15390004 )
2004
29
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. ( 15467010 )
2004
30
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. ( 15159647 )
2004
31
Cranial MR spectroscopy of tetrahydrobiopterin deficiency. ( 12063241 )
2002
32
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. ( 11937441 )
2002
33
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. ( 12358762 )
2002
34
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. ( 11902126 )
2002
35
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. ( 11940335 )
2002
36
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. ( 11694255 )
2001
37
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. ( 11592814 )
2001
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
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. ( 10765502 )
2000
41
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. ( 9545000 )
1998
42
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. ( 8739973 )
1996
43
International database of tetrahydrobiopterin deficiencies. ( 8830181 )
1996
44
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. ( 8864759 )
1996
45
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. ( 7542713 )
1995
46
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. ( 8801112 )
1995
47
Tetrahydrobiopterin-deficient nitric oxide synthase has a modified heme environment and forms a cytochrome P-420 analogue. ( 7539291 )
1995
48
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. ( 7923811 )
1994
49
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. ( 7967477 )
1994
50
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. ( 7698774 )
1994

Variations for Tetrahydrobiopterin Deficiency

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
2
Show member pathways
12.16 GH1 NOS3 PRL TH
3
Show member pathways
11.74 PAH PCBD1 QDPR
4
Show member pathways
11.27 NOS1 NOS3 SOD1
5
Show member pathways
11.25 DHFR GCH1 NOS3 PTS SPR
6
Show member pathways
11.03 NOS1 NOS3 SOD1
7 10.99 NOS1 NOS3
8
Show member pathways
10.95 NOS1 NOS3
9 10.9 NOS1 NOS3
10
Show member pathways
10.85 PAH TH
11 10.77 DHFR HPRT1
12
Show member pathways
10.69 DHFR GCH1 PAH PCBD1 PTS QDPR
13 10.6 SOD1 TH
14 10.55 NOS1 NOS3
15 10.27 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 endosome lumen GO:0031904 8.96 GH1 PRL

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.78 HPRT1 SOD1 TH
2 regulation of blood pressure GO:0008217 9.74 GCH1 NOS3 SOD1
3 response to heat GO:0009408 9.67 NOS1 NOS3 SOD1
4 regulation of multicellular organism growth GO:0040014 9.65 PRL SOD1
5 negative regulation of blood pressure GO:0045776 9.65 GCH1 NOS1 NOS3
6 regulation of sodium ion transport GO:0002028 9.64 NOS1 NOS3
7 positive regulation of JAK-STAT cascade GO:0046427 9.64 GH1 PRL
8 positive regulation of nitric-oxide synthase activity GO:0051000 9.63 DHFR GCH1
9 nitric oxide mediated signal transduction GO:0007263 9.63 NOS1 NOS3
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.62 GH1 PRL
11 removal of superoxide radicals GO:0019430 9.62 NOS3 SOD1
12 negative regulation of calcium ion transport GO:0051926 9.61 NOS1 NOS3
13 response to amphetamine GO:0001975 9.61 HPRT1 SOD1 TH
14 oxidation-reduction process GO:0055114 9.61 DHFR NOS1 NOS3 PAH PCBD1 QDPR
15 positive regulation of guanylate cyclase activity GO:0031284 9.6 NOS1 NOS3
16 dopamine biosynthetic process GO:0042416 9.59 GCH1 TH
17 negative regulation of potassium ion transport GO:0043267 9.58 NOS1 NOS3
18 aromatic amino acid family metabolic process GO:0009072 9.58 PAH TH
19 vasodilation GO:0042311 9.58 GCH1 NOS1 NOS3
20 regulation of removal of superoxide radicals GO:2000121 9.56 DHFR GCH1
21 regulation of nitric-oxide synthase activity GO:0050999 9.56 GCH1 NOS3 PTS SPR
22 arginine catabolic process GO:0006527 9.55 NOS1 NOS3
23 negative regulation of hydrolase activity GO:0051346 9.54 NOS1 NOS3
24 neurotransmitter biosynthetic process GO:0042136 9.54 NOS1 PAH TH
25 tetrahydrofolate biosynthetic process GO:0046654 9.52 DHFR GCH1
26 catecholamine biosynthetic process GO:0042423 9.51 PAH TH
27 L-phenylalanine catabolic process GO:0006559 9.5 PAH PCBD1 QDPR
28 dihydrobiopterin metabolic process GO:0051066 9.46 GCH1 QDPR
29 nitric oxide biosynthetic process GO:0006809 9.46 GCH1 NOS1 NOS3 SPR
30 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 15)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.95 GCH1 HPRT1 PTS QDPR SOD1
2 iron ion binding GO:0005506 9.62 NOS1 NOS3 PAH TH
3 NADPH binding GO:0070402 9.52 DHFR QDPR
4 FMN binding GO:0010181 9.51 NOS1 NOS3
5 arginine binding GO:0034618 9.49 NOS1 NOS3
6 cadmium ion binding GO:0046870 9.48 NOS1 NOS3
7 NADPH-hemoprotein reductase activity GO:0003958 9.46 NOS1 NOS3
8 NADP binding GO:0050661 9.46 DHFR NOS1 NOS3 SPR
9 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 9.43 PAH TH
10 nitric-oxide synthase activity GO:0004517 9.4 NOS1 NOS3
11 phenylalanine 4-monooxygenase activity GO:0004505 9.37 PAH PCBD1
12 prolactin receptor binding GO:0005148 9.26 GH1 PRL
13 oxidoreductase activity GO:0016491 9.23 DHFR NOS1 NOS3 PAH QDPR SOD1
14 tetrahydrobiopterin binding GO:0034617 9.13 NOS1 NOS3 TH
15 metal ion binding GO:0046872 10.19 GCH1 GH1 HPRT1 NOS1 NOS3 PAH

Sources for Tetrahydrobiopterin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....