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 76 53 25
Hyperphenylalaninemia, Non-Phenylketonuric 53 25 73
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 53 25
Non-Phenylketonuric Hyperphenylalaninemia 53 25
Bh4 Deficiency 53 25

Classifications:



External Ids:

UMLS 73 C0751436

Summaries for Tetrahydrobiopterin Deficiency

NIH Rare Diseases : 53 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, 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 Verapamil and Nitric Oxide 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 : 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 : 76 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 32.2 GCH1 PTS QDPR TH
2 phenylketonuria 29.0 GCH1 PAH PTS QDPR TH
3 hyperphenylalaninemia 26.6 GCH1 NOS1 PAH PCBD1 PTS QDPR
4 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 12.2
5 hyperphenylalaninemia, bh4-deficient, a 11.9
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 10.7 DHFR QDPR
11 intestinal perforation 10.6 NOS1 PTS
12 cranio-facial dystonia 10.5 GCH1 PTS
13 lymphedema, hereditary, ii 10.5 GCH1 PTS
14 vasculogenic impotence 10.5 NOS3 PTS
15 acute chest syndrome 10.4 NOS1 NOS3
16 hereditary dystonia 10.3 GCH1 TH
17 keratomalacia 10.3 PAH QDPR
18 jejunoileitis 10.3 NOS1 NOS3
19 segawa syndrome, autosomal recessive 10.3 GCH1 TH
20 classic phenylketonuria 10.3 PAH PTS QDPR
21 dyskinetic cerebral palsy 10.1 HPRT1 PTS
22 head injury 10.1 PRL SOD1
23 endotheliitis 10.1
24 dystonia 1, torsion, autosomal dominant 10.0 GCH1 TH
25 dystonia, dopa-responsive 10.0 GCH1 SPR TH
26 sexual disorder 9.9 NOS1 NOS3 PRL
27 impotence 9.9 NOS1 NOS3 PRL
28 mild hyperphenylalaninemia 9.9 PAH PCBD1 PTS QDPR
29 fibrous dysplasia/mccune-albright syndrome 9.8 GH1 PRL
30 tsh producing pituitary tumor 9.8 GH1 PRL
31 adenohypophysitis 9.8 GH1 PRL
32 pseudohypoparathyroidism, type ia 9.8 GH1 PRL
33 fabry disease 9.8
34 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 9.8
35 hyperprolactinemia 9.8
36 diabetes mellitus 9.8
37 rabies 9.8
38 gastroparesis 9.8
39 dystonia 9.8
40 neuronitis 9.8
41 hypoxia 9.8
42 hypothalamic disease 9.7 GH1 PRL
43 pituitary adenoma 1, multiple types 9.7 GH1 PRL
44 gigantism 9.7 GH1 PRL
45 empty sella syndrome 9.7 GH1 PRL
46 hyperpituitarism 9.7 GH1 PRL
47 hypothyroidism, congenital, nongoitrous, 4 9.6 GH1 PRL
48 functioning pituitary adenoma 9.6 GH1 PRL
49 chromophobe adenoma 9.2 GH1 PRL
50 parkinson disease, late-onset 9.0 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:

26 (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 GH1 DHFR
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 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:

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

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
Verapamil Approved Phase 2 52-53-9 2520
2
Nitric Oxide Approved Phase 2 10102-43-9 145068 160954
3
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
4 calcium channel blockers Phase 2
5 Micronutrients Phase 2
6 Trace Elements Phase 2
7 Anti-Arrhythmia Agents Phase 2
8 Vasodilator Agents Phase 2
9 Vitamins Phase 2
10 Antioxidants Phase 2
11 Protective Agents 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 A Study of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Not yet recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
5 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:

41
Brain, Endothelial

Publications for Tetrahydrobiopterin Deficiency

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50) (show all 72)
# Title Authors Year
1
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. ( 28158561 )
2017
2
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. ( 28915855 )
2017
3
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency. ( 27562098 )
2016
4
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension. ( 26276526 )
2015
5
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
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
Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. ( 23639814 )
2013
9
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. ( 24497712 )
2013
10
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. ( 23942198 )
2013
11
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. ( 23138986 )
2013
12
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. ( 22832064 )
2013
13
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. ( 21512164 )
2011
14
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. ( 21416196 )
2011
15
Dihydrofolate reductase protects endothelial nitric oxide synthase from uncoupling in tetrahydrobiopterin deficiency. ( 21402147 )
2011
16
Autophagy induction by tetrahydrobiopterin deficiency. ( 21795851 )
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
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. ( 18505119 )
2008
22
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. ( 18060820 )
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
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. ( 15159647 )
2004
29
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. ( 15390004 )
2004
30
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. ( 15467010 )
2004
31
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. ( 11937441 )
2002
32
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. ( 11902126 )
2002
33
Cranial MR spectroscopy of tetrahydrobiopterin deficiency. ( 12063241 )
2002
34
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. ( 11940335 )
2002
35
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. ( 12358762 )
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
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. ( 10874306 )
2000
39
Impaired nitric oxide production in coronary endothelial cells of the spontaneously diabetic BB rat is due to tetrahydrobiopterin deficiency. ( 10861247 )
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
International database of tetrahydrobiopterin deficiencies. ( 8830181 )
1996
43
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. ( 8864759 )
1996
44
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. ( 8739973 )
1996
45
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. ( 8801112 )
1995
46
Tetrahydrobiopterin-deficient nitric oxide synthase has a modified heme environment and forms a cytochrome P-420 analogue. ( 7539291 )
1995
47
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. ( 7542713 )
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 mitochondrion GO:0005739 9.8 DHFR NOS1 PTS QDPR SOD1 TH
3 cytosol GO:0005829 9.4 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
4 vesicle membrane GO:0012506 9.26 NOS1 NOS3
5 endosome lumen GO:0031904 8.96 GH1 PRL

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.83 GCH1 NOS1 NOS3 TH
2 oxidation-reduction process GO:0055114 9.81 DHFR NOS1 NOS3 PAH PCBD1 QDPR
3 locomotory behavior GO:0007626 9.79 HPRT1 SOD1 TH
4 regulation of blood pressure GO:0008217 9.76 GCH1 NOS3 SOD1
5 response to heat GO:0009408 9.69 NOS1 NOS3 SOD1
6 negative regulation of blood pressure GO:0045776 9.67 GCH1 NOS1 NOS3
7 response to nutrient levels GO:0031667 9.67 GH1 PRL SOD1 TH
8 regulation of multicellular organism growth GO:0040014 9.66 PRL SOD1
9 positive regulation of JAK-STAT cascade GO:0046427 9.66 GH1 PRL
10 regulation of nitric-oxide synthase activity GO:0050999 9.65 NOS3 SPR
11 regulation of sodium ion transport GO:0002028 9.65 NOS1 NOS3
12 positive regulation of nitric-oxide synthase activity GO:0051000 9.65 DHFR GCH1
13 regulation of blood vessel size GO:0050880 9.64 NOS1 NOS3
14 nitric oxide mediated signal transduction GO:0007263 9.64 NOS1 NOS3
15 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.63 GH1 PRL
16 removal of superoxide radicals GO:0019430 9.63 NOS3 SOD1
17 response to amphetamine GO:0001975 9.63 HPRT1 SOD1 TH
18 negative regulation of calcium ion transport GO:0051926 9.62 NOS1 NOS3
19 positive regulation of guanylate cyclase activity GO:0031284 9.62 NOS1 NOS3
20 negative regulation of potassium ion transport GO:0043267 9.61 NOS1 NOS3
21 vasodilation GO:0042311 9.61 GCH1 NOS1 NOS3
22 dopamine biosynthetic process GO:0042416 9.6 GCH1 TH
23 aromatic amino acid family metabolic process GO:0009072 9.59 PAH TH
24 tetrahydrofolate biosynthetic process GO:0046654 9.58 DHFR GCH1
25 neurotransmitter biosynthetic process GO:0042136 9.58 NOS1 PAH TH
26 arginine catabolic process GO:0006527 9.57 NOS1 NOS3
27 negative regulation of hydrolase activity GO:0051346 9.56 NOS1 NOS3
28 nitric oxide biosynthetic process GO:0006809 9.56 GCH1 NOS1 NOS3 SPR
29 regulation of removal of superoxide radicals GO:2000121 9.55 DHFR GCH1
30 catecholamine biosynthetic process GO:0042423 9.54 PAH TH
31 L-phenylalanine catabolic process GO:0006559 9.5 PAH PCBD1 QDPR
32 dihydrobiopterin metabolic process GO:0051066 9.48 GCH1 QDPR
33 cofactor metabolic process GO:0051186 9.26 GCH1 NOS3 PTS SPR
34 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)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.96 GCH1 HPRT1 PTS QDPR SOD1
2 iron ion binding GO:0005506 9.62 NOS1 NOS3 PAH TH
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.55 NOS1 NOS3
4 NADPH binding GO:0070402 9.52 DHFR QDPR
5 FMN binding GO:0010181 9.51 NOS1 NOS3
6 arginine binding GO:0034618 9.49 NOS1 NOS3
7 NADPH-hemoprotein reductase activity GO:0003958 9.48 NOS1 NOS3
8 cadmium ion binding GO:0046870 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 phenylalanine 4-monooxygenase activity GO:0004505 9.4 PAH PCBD1
12 nitric-oxide synthase activity GO:0004517 9.37 NOS1 NOS3
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 10.19 GCH1 GH1 HPRT1 NOS1 NOS3 PAH

Sources for Tetrahydrobiopterin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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