MCID: TTR005
MIFTS: 41

Tetrahydrobiopterin Deficiency malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Tetrahydrobiopterin Deficiency

Aliases & Descriptions for Tetrahydrobiopterin Deficiency:

Name: Tetrahydrobiopterin Deficiency 71 50 25
Hyperphenylalaninemia, Non-Phenylketonuric 50 25 69
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 50 25
Non-Phenylketonuric Hyperphenylalaninemia 50 25
Bh4 Deficiency 50 25

Classifications:



Summaries for Tetrahydrobiopterin Deficiency

NIH Rare Diseases : 50 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 hyperphenylalaninemia and hyperphenylalaninemia, bh4-deficient, d. An important gene associated with Tetrahydrobiopterin Deficiency is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Prolactin Signaling Pathway. The drugs phenylalanine 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 homeostasis/metabolism

Genetics Home Reference : 25 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 : 71 Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic... more...

Related Diseases for Tetrahydrobiopterin Deficiency

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia 11.3
2 hyperphenylalaninemia, bh4-deficient, d 11.1
3 megaloblastic anemia due to dihydrofolate reductase deficiency 10.9
4 hyperphenylalaninemia, bh4-deficient, b 10.9
5 gtp cyclohydrolase i deficiency 10.8
6 hyperphenylalaninemia due to dehydratase deficiency 10.8
7 hyperphenylalaninemia, bh4-deficient, c 10.8
8 hyperphenylalaninemia, bh4-deficient, a 10.8
9 cerulean cataract 10.3 DHFR QDPR
10 chondroid syringoma of the vulva 10.2 NOS1 PTS
11 x-linked intellectual disability, seemanova type 10.2 PAH PTS QDPR
12 vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome 10.1 GCH1 TH
13 spinocerebellar ataxia, autosomal recessive 7 10.1 GCH1 TH
14 psychosexual disorder 10.1 NOS1 NOS3
15 rapidly progressive glomerulonephritis 10.1 NOS3 PTS
16 idiopathic malabsorption due to bile acid synthesis defects 10.0 PAH PCBD1 PTS QDPR
17 aphasia 10.0 NOS1 NOS3 PRL
18 viral hepatitis 10.0 NOS1 NOS3 PRL
19 endotheliitis 10.0
20 eccrine acrospiroma 10.0 GCH1 SPR TH
21 grin2a-related speech disorders and epilepsy 10.0 GH1 PRL
22 halal setton wang syndrome 10.0 GCH1 PTS QDPR TH
23 shaver's disease 9.9 GH1 SOD1
24 cerebral hemisphere lipoma 9.9 GH1 PRL
25 congenital tricuspid stenosis 9.9 GH1 PRL
26 intermittent squint 9.9 GH1 PRL
27 phenylketonuria 9.9
28 glaucoma, hereditary adult type 1a 9.9 GH1 PRL
29 lethal congenital contracture syndrome 1 9.9 GCH1 TH
30 olfactory nerve neoplasm 9.9 GH1 PRL
31 hemochromatosis, type 2a 9.9 GCH1 SOD1 TH
32 protein s deficiency 9.8 GH1 PRL
33 leopard syndrome 1 9.7 GCH1 PAH PCBD1 PTS QDPR TH
34 neuronitis 9.7
35 hypoxia 9.7
36 hyperprolactinemia 9.7
37 atherosclerosis 9.7
38 rabies 9.7
39 gastroparesis 9.7
40 dystonia 9.7
41 pseudo-gaucher disease 9.2 GCH1 NOS1 PAH PCBD1 PTS QDPR
42 7q11.23 duplication syndrome 8.3 DHFR GCH1 GH1 HPRT1 NOS1 NOS3

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:

26
id 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 GH1 SOD1
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 SOD1 DHFR
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 PTS SOD1 DHFR GH1
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.14 HPRT1 NOS1 NOS3 PAH PCBD1 PRL
2 behavior/neurological MP:0005386 10.11 HPRT1 NOS1 NOS3 PAH PRL PTS
3 endocrine/exocrine gland MP:0005379 9.98 HPRT1 NOS1 NOS3 PRL PTS SOD1
4 integument MP:0010771 9.91 TH HPRT1 PAH PCBD1 PRL PTS
5 nervous system MP:0003631 9.91 HPRT1 NOS1 NOS3 PAH PRL PTS
6 liver/biliary system MP:0005370 9.8 HPRT1 NOS1 NOS3 PRL SOD1 TH
7 reproductive system MP:0005389 9.5 HPRT1 NOS1 NOS3 PAH PRL PTS
8 pigmentation MP:0001186 9.46 HPRT1 PAH PCBD1 PTS
9 vision/eye MP:0005391 9.17 PAH PCBD1 SOD1 TH HPRT1 NOS1

Drugs & Therapeutics for Tetrahydrobiopterin Deficiency

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 phenylalanine Nutraceutical Phase 2, Phase 3
2
Verapamil Approved Phase 2 52-53-9 2520
3
Nitric Oxide Approved Phase 2 10102-43-9 145068
4
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
5 calcium channel blockers Phase 2
6 Vasodilator Agents Phase 2
7 Anti-Arrhythmia Agents Phase 2
8 Calcium, Dietary Phase 2
9 Trace Elements Phase 2
10 Vitamins Phase 2
11 Protective Agents Phase 2
12 Micronutrients Phase 2
13 Antioxidants Phase 2,Early Phase 1
14
Estradiol Approved, Investigational, Vet_approved Early Phase 1 50-28-2 5757 53477783
15
Cetrorelix Approved, Investigational Early Phase 1 120287-85-6 16129715 25074887
16 Estradiol valerate Early Phase 1 979-32-8
17 Contraceptive Agents Early Phase 1
18 Hormone Antagonists Early Phase 1
19 Hormones Early Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Early Phase 1
21 Estradiol 17 beta-cypionate Early Phase 1
22 Estradiol 3-benzoate Early Phase 1
23 Estrogens Early Phase 1
24 Polyestradiol phosphate Early Phase 1
25 Fertility Agents Early Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3
2 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2
3 Study of Kuvan Treatment in Adults With GTPCH Deficiency Completed NCT01425528 Phase 1, Phase 2
4 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
5 A Study of the Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic Hypertension Completed NCT00325962 Phase 2
6 Sapropterin Expanded Access Program Approved for marketing NCT00484991
7 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency Recruiting NCT01016392
8 Sex Hormones and Atherosclerosis Prevention in Perimenopausal Women Recruiting NCT02042196 Early Phase 1

Search NIH Clinical Center for Tetrahydrobiopterin Deficiency

Genetic Tests for Tetrahydrobiopterin Deficiency

Anatomical Context for Tetrahydrobiopterin Deficiency

MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

39
Brain, Endothelial

Publications for Tetrahydrobiopterin Deficiency

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50) (show all 69)
id Title Authors Year
1
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency. ( 27562098 )
2016
2
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
3
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension. ( 26276526 )
2015
4
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency. ( 26515614 )
2015
5
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. ( 25304915 )
2014
6
Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. ( 23639814 )
2013
7
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. ( 24497712 )
2013
8
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. ( 23942198 )
2013
9
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. ( 22832064 )
2013
10
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. ( 23138986 )
2013
11
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. ( 21512164 )
2011
12
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. ( 21416196 )
2011
13
Dihydrofolate reductase protects endothelial nitric oxide synthase from uncoupling in tetrahydrobiopterin deficiency. ( 21402147 )
2011
14
Autophagy induction by tetrahydrobiopterin deficiency. ( 21795851 )
2011
15
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. ( 20458544 )
2010
16
Tetrahydrobiopterin deficiency in human rabies. ( 18949578 )
2009
17
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. ( 19534905 )
2009
18
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
19
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. ( 18505119 )
2008
20
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. ( 18060820 )
2008
21
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
22
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus. ( 17679617 )
2007
23
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. ( 16767663 )
2006
24
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury. ( 15774769 )
2005
25
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. ( 16275037 )
2005
26
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. ( 15159647 )
2004
27
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. ( 15390004 )
2004
28
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. ( 15467010 )
2004
29
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. ( 12358762 )
2002
30
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. ( 11902126 )
2002
31
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. ( 11940335 )
2002
32
Cranial MR spectroscopy of tetrahydrobiopterin deficiency. ( 12063241 )
2002
33
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. ( 11937441 )
2002
34
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. ( 11592814 )
2001
35
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. ( 11694255 )
2001
36
Impaired nitric oxide production in coronary endothelial cells of the spontaneously diabetic BB rat is due to tetrahydrobiopterin deficiency. ( 10861247 )
2000
37
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. ( 10765502 )
2000
38
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. ( 10874306 )
2000
39
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. ( 9545000 )
1998
40
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. ( 8864759 )
1996
41
International database of tetrahydrobiopterin deficiencies. ( 8830181 )
1996
42
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. ( 8739973 )
1996
43
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. ( 8801112 )
1995
44
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. ( 7542713 )
1995
45
Tetrahydrobiopterin-deficient nitric oxide synthase has a modified heme environment and forms a cytochrome P-420 analogue. ( 7539291 )
1995
46
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. ( 7698774 )
1994
47
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. ( 7967477 )
1994
48
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. ( 7923811 )
1994
49
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. ( 7609463 )
1993
50
Tetrahydrobiopterin deficiency and an international database of patients. ( 8304121 )
1993

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 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
2
Show member pathways
12.19 GH1 NOS3 PRL TH
3
Show member pathways
11.77 PAH PCBD1 QDPR
4
Show member pathways
11.32 NOS1 NOS3 SOD1
5
Show member pathways
11.25 DHFR GCH1 NOS3 PTS SPR
6
Show member pathways
11.1 NOS1 NOS3 SOD1
7
Show member pathways
11.06 NOS1 NOS3
8 10.99 NOS1 NOS3
9 10.92 NOS1 NOS3
10
Show member pathways
10.87 PAH TH
11 10.79 DHFR HPRT1
12 10.62 SOD1 TH
13 10.57 NOS1 NOS3
14 10.31 NOS1 NOS3
15 10.23 DHFR GCH1 PTS QDPR SPR
16 9.63 PAH QDPR

GO Terms for Tetrahydrobiopterin Deficiency

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

id 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 33)
id Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.81 PRL SOD1 TH
2 response to estradiol GO:0032355 9.79 GH1 PRL TH
3 locomotory behavior GO:0007626 9.79 HPRT1 SOD1 TH
4 regulation of blood pressure GO:0008217 9.74 GCH1 NOS3 SOD1
5 response to heat GO:0009408 9.67 NOS1 NOS3 SOD1
6 regulation of multicellular organism growth GO:0040014 9.66 PRL SOD1
7 regulation of sodium ion transport GO:0002028 9.65 NOS1 NOS3
8 positive regulation of nitric-oxide synthase activity GO:0051000 9.65 DHFR GCH1
9 positive regulation of JAK-STAT cascade GO:0046427 9.65 GH1 PRL
10 negative regulation of blood pressure GO:0045776 9.65 GCH1 NOS1 NOS3
11 nitric oxide mediated signal transduction GO:0007263 9.64 NOS1 NOS3
12 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.63 GH1 PRL
13 removal of superoxide radicals GO:0019430 9.63 NOS3 SOD1
14 negative regulation of calcium ion transport GO:0051926 9.62 NOS1 NOS3
15 positive regulation of guanylate cyclase activity GO:0031284 9.61 NOS1 NOS3
16 response to amphetamine GO:0001975 9.61 HPRT1 SOD1 TH
17 oxidation-reduction process GO:0055114 9.61 DHFR NOS1 NOS3 PAH PCBD1 QDPR
18 dopamine biosynthetic process GO:0042416 9.6 GCH1 TH
19 negative regulation of potassium ion transport GO:0043267 9.59 NOS1 NOS3
20 multicellular organismal response to stress GO:0033555 9.58 NOS1 PRL
21 aromatic amino acid family metabolic process GO:0009072 9.58 PAH TH
22 vasodilation GO:0042311 9.58 GCH1 NOS1 NOS3
23 regulation of removal of superoxide radicals GO:2000121 9.56 DHFR GCH1
24 regulation of nitric-oxide synthase activity GO:0050999 9.56 GCH1 NOS3 PTS SPR
25 arginine catabolic process GO:0006527 9.55 NOS1 NOS3
26 negative regulation of hydrolase activity GO:0051346 9.54 NOS1 NOS3
27 neurotransmitter biosynthetic process GO:0042136 9.54 NOS1 PAH TH
28 tetrahydrofolate biosynthetic process GO:0046654 9.52 DHFR GCH1
29 catecholamine biosynthetic process GO:0042423 9.51 PAH TH
30 L-phenylalanine catabolic process GO:0006559 9.5 PAH PCBD1 QDPR
31 dihydrobiopterin metabolic process GO:0051066 9.46 GCH1 QDPR
32 nitric oxide biosynthetic process GO:0006809 9.46 GCH1 NOS1 NOS3 SPR
33 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 16)
id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.93 GCH1 HPRT1 PTS QDPR SOD1
2 iron ion binding GO:0005506 9.71 NOS1 NOS3 PAH TH
3 amino acid binding GO:0016597 9.56 PAH TH
4 FMN binding GO:0010181 9.52 NOS1 NOS3
5 NADPH binding GO:0070402 9.51 DHFR QDPR
6 arginine binding GO:0034618 9.49 NOS1 NOS3
7 cadmium ion binding GO:0046870 9.48 NOS1 NOS3
8 NADPH-hemoprotein reductase activity GO:0003958 9.46 NOS1 NOS3
9 NADP binding GO:0050661 9.46 DHFR NOS1 NOS3 SPR
10 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
11 nitric-oxide synthase activity GO:0004517 9.37 NOS1 NOS3
12 phenylalanine 4-monooxygenase activity GO:0004505 9.32 PAH PCBD1
13 prolactin receptor binding GO:0005148 9.26 GH1 PRL
14 oxidoreductase activity GO:0016491 9.23 DHFR NOS1 NOS3 PAH QDPR SOD1
15 tetrahydrobiopterin binding GO:0034617 9.13 NOS1 NOS3 TH
16 metal ion binding GO:0046872 10.2 GCH1 GH1 HPRT1 NOS1 NOS3 PAH

Sources for Tetrahydrobiopterin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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