MCID: TTR005
MIFTS: 45

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 74 52 25
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 52 58 29 6
Hyperphenylalaninemia, Non-Phenylketonuric 52 25 71
Non-Phenylketonuric Hyperphenylalaninemia 52 25 58
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 52 25
Hyperphenylalaninemia Due to Bh4 Deficiency 52 58
Bh4 Deficiency 52 25

Characteristics:

Orphanet epidemiological data:

58
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E70.1
UMLS via Orphanet 72 C0751435 C0751436
Orphanet 58 ORPHA238583
UMLS 71 C0751436

Summaries for Tetrahydrobiopterin Deficiency

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. Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.

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 Nitric Oxide and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and breast, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

NIH Rare Diseases : 52 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.

Wikipedia : 74 Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels... 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 89)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 33.2 TH QDPR PTS GCH1
2 hyperphenylalaninemia, bh4-deficient, a 32.6 SPR QDPR PTS PCBD1 PAH GCH1
3 classic phenylketonuria 30.3 QDPR PTS PAH
4 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 30.0 SPR QDPR PCBD1 GCH1
5 mild hyperphenylalaninemia 29.9 QDPR PTS PCBD1 PAH
6 movement disease 29.9 TH HPRT1 GCH1
7 phenylketonuria 29.8 TH QDPR PTS PCBD1 PAH GCH1
8 gastroparesis 29.4 TH PRL NOS1
9 hyperphenylalaninemia 28.4 TH SPR SOD1 QDPR PTS PCBD1
10 parkinson disease, late-onset 27.8 TH SPR SOD1 QDPR PAH NOS1
11 diabetes mellitus 27.4 TH SOD1 PTS PRL NOS3 GH1
12 dystonia 27.2 TH SPR QDPR PTS PRL PCBD1
13 hyperphenylalaninemia, bh4-deficient, d 12.1
14 hyperphenylalaninemia, bh4-deficient, c 11.8
15 megaloblastic anemia due to dihydrofolate reductase deficiency 11.3
16 oculogyric crisis 10.3 SPR GCH1
17 hemidystonia 10.3 SPR GCH1
18 multifocal dystonia 10.3 SPR GCH1
19 pyridoxamine 5-prime-phosphate oxidase deficiency 10.3 SPR QDPR
20 hereditary dystonia 10.2 TH GCH1
21 segawa syndrome, autosomal recessive 10.2 TH GCH1
22 intestinal perforation 10.2 PTS NOS1
23 paroxysmal dystonia 10.1 TH NOS1
24 tyrosinemia 10.1 QDPR PTS PAH
25 purine-pyrimidine metabolic disorder 10.1 HPRT1 GCH1
26 aromatic l-amino acid decarboxylase deficiency 10.0 TH QDPR
27 autosomal recessive disease 10.0
28 encephalopathy 10.0
29 fibrous dysplasia/mccune-albright syndrome 10.0 PRL GH1
30 argininemia 10.0 QDPR PAH
31 adenohypophysitis 10.0 PRL GH1
32 chromophobe adenoma 10.0 PRL GH1
33 gigantism 10.0 PRL GH1
34 tsh producing pituitary tumor 10.0 PRL GH1
35 hypothyroidism, congenital, nongoitrous, 4 10.0 PRL GH1
36 dystonia, dopa-responsive 10.0 TH SPR GCH1
37 pituitary-dependent cushing's disease 10.0 PRL GH1
38 cervical dystonia 10.0 TH SPR GCH1
39 triiodothyronine receptor auxiliary protein 10.0
40 persistent hyperplastic primary vitreous, autosomal recessive 10.0
41 hypothalamic disease 10.0 PRL GH1
42 pituitary stalk interruption syndrome 10.0 PRL GH1
43 pituitary apoplexy 9.9 PRL GH1
44 empty sella syndrome 9.9 PRL GH1
45 hyperpituitarism 9.9 PRL GH1
46 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 QDPR PCBD1 PAH GCH1
47 van maldergem syndrome 1 9.9 PRL GH1
48 atherosclerosis susceptibility 9.9
49 schizencephaly 9.9
50 fabry disease 9.9

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 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.74 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.74 DHFR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 GH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.74 GH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.74 GH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.74 PTS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 GH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.74 DHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.74 PTS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.74 DHFR SOD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.74 DHFR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.74 SOD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.74 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.74 GH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.74 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.74 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.74 PTS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.74 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.74 GH1 PTS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.74 GH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.74 SOD1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.74 PTS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.74 DHFR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.74 GH1

MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
2 behavior/neurological MP:0005386 10.13 HPRT1 NOS1 NOS3 PAH PRL PTS
3 cardiovascular system MP:0005385 10.06 DHFR GCH1 HPRT1 NOS1 NOS3 PTS
4 endocrine/exocrine gland MP:0005379 9.98 HPRT1 NOS1 NOS3 PRL PTS SOD1
5 integument MP:0010771 9.97 DHFR HPRT1 PAH PCBD1 PRL PTS
6 mortality/aging MP:0010768 9.96 DHFR GCH1 HPRT1 NOS1 NOS3 PTS
7 liver/biliary system MP:0005370 9.87 DHFR HPRT1 NOS1 NOS3 PRL SOD1
8 nervous system MP:0003631 9.65 GCH1 HPRT1 NOS1 NOS3 PAH PRL
9 muscle MP:0005369 9.63 DHFR HPRT1 NOS1 NOS3 PTS SOD1
10 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 19)
# 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 5785 54670067
4 Hormones Phase 2
5 Anti-Arrhythmia Agents Phase 2
6 Vasodilator Agents Phase 2
7 Calcium, Dietary Phase 2
8 calcium channel blockers Phase 2
9 Vitamins Phase 2
10
Calcium Nutraceutical Phase 2 7440-70-2 271
11
Cetrorelix Approved, Investigational Early Phase 1 120287-85-6 16129715 25074887
12
Estradiol Approved, Investigational, Vet_approved Early Phase 1 50-28-2 5757
13
Polyestradiol phosphate Approved Early Phase 1 28014-46-2
14
Phenylalanine Approved, Investigational, Nutraceutical 63-91-2 6140
15 Estradiol 17 beta-cypionate Early Phase 1
16 Hormone Antagonists Early Phase 1
17 Antioxidants Early Phase 1
18 Estradiol 3-benzoate Early Phase 1
19 Estrogens Early Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel 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)
2 A Phase 2, Randomized, Open-label, 2-Treatment, 2-Sequence, 2-Period Crossover, Pharmacokinetic (PK) Study to Compare the Plasma Concentrations of BH4 in Subjects With Endothelial Dysfunction Following 14 Days of Treatment by Each of 2 Regimens: 6R-BH4 With Vitamin C and 6R-BH4 Alone Completed NCT00532844 Phase 2 6R-BH4 (sapropterin dihydrochloride);6R-BH4 (sapropterin dihydrochloride)
3 Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
4 6R-BH 4 in People With Schizophrenia and Schizoaffective Disorder Completed NCT01706965 Phase 1, Phase 2 Kuvan;Multivitamin
5 A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate Safety, PK and Preliminary Efficacy of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
6 An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency Completed NCT03864029 KUVAN
7 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
8 Effects of Tetrahydrobiopterin on Blood Pressure Completed NCT00208780 Early Phase 1 Tetrahydrobiopterin;Tetrahydrobiopterin
9 Biological Mechanisms of Vascular Dysfunction With Age and Estrogen Deficiency Completed NCT02042196 Early Phase 1 KUVAN;Placebo;Cetrotide;Climara;Placebo transdermal patch
10 Kuvan® Adult Maternal Pediatric European Registry Active, not recruiting NCT01016392
11 Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development. Not yet recruiting NCT04302194

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 29

Anatomical Context for Tetrahydrobiopterin Deficiency

MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

40
Brain, Endothelial, Breast, Testes

Publications for Tetrahydrobiopterin Deficiency

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50) (show all 140)
# Title Authors PMID Year
1
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. 6 61
19280650 2009
2
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 6 61
8326489 1993
3
Recessive mutations in PCBD1 cause a new type of early-onset diabetes. 6
24848070 2014
4
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 6
11153907 2000
5
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. 6
9760199 1998
6
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). 6
9585615 1998
7
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 6
9744478 1998
8
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 6
9450907 1998
9
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients. 6
9341885 1997
10
Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia. 6
8618906 1995
11
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. 6
7730309 1995
12
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. 6
7869202 1995
13
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 6
8178819 1994
14
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. 6
8352282 1993
15
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 6
2116088 1990
16
Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction? 61
32380298 2020
17
Coupled Genome-Wide DNA Methylation and Transcription Analysis Identified Rich Biomarkers and Drug Targets in Triple-Negative Breast Cancer. 61
31690011 2019
18
Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China. 61
31445982 2019
19
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects. 61
30926181 2019
20
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China. 61
30221392 2019
21
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. 61
31737040 2019
22
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients. 61
30001213 2018
23
Endothelial Cell Tetrahydrobiopterin Modulates Sensitivity to Ang (Angiotensin) II-Induced Vascular Remodeling, Blood Pressure, and Abdominal Aortic Aneurysm. 61
29844152 2018
24
[Tetrahydrobiopterin (BH4) deficiency - diagnosis and treatment]. 61
29172658 2017
25
Tetrahydrobiopterin in antenatal brain hypoxia-ischemia-induced motor impairments and cerebral palsy. 61
28803128 2017
26
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. 61
28915855 2017
27
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. 61
28158561 2017
28
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency. 61
27562098 2016
29
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension. 61
26276526 2016
30
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency. 61
26515614 2016
31
Maternal-pup interaction disturbances induce long-lasting changes in the newborn rat pulmonary vasculature. 61
26342088 2015
32
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. 61
25304915 2015
33
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. 61
25418970 2015
34
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing. 61
25456745 2014
35
Circulating tetrahydrobiopterin as a novel biomarker for abdominal aortic aneurysm. 61
25260610 2014
36
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. 61
24497712 2013
37
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. 61
23138986 2013
38
Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. 61
23639814 2013
39
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. 61
22832064 2013
40
Role of uncoupled endothelial nitric oxide synthase in abdominal aortic aneurysm formation: treatment with folic acid. 61
22083158 2012
41
Autophagy induction by tetrahydrobiopterin deficiency. 61
21795851 2011
42
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. 61
21512164 2011
43
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. 61
21416196 2011
44
Dihydrofolate reductase protects endothelial nitric oxide synthase from uncoupling in tetrahydrobiopterin deficiency. 61
21402147 2011
45
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. 61
21310276 2011
46
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. 61
20458544 2010
47
Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. 61
30780801 2010
48
Sapropterin. Phenylketonuria: for a minority of patients. 61
20738029 2010
49
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency. 61
19322676 2009
50
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 61
19704083 2009

Variations for Tetrahydrobiopterin Deficiency

ClinVar genetic disease variations for Tetrahydrobiopterin Deficiency:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GCH1 NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)SNV Conflicting interpretations of pathogenicity 161247 rs56127440 14:55369176-55369176 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 TH SPR QDPR PTS PCBD1 PAH
2
Show member pathways
12.16 TH PRL NOS3 GH1
3
Show member pathways
11.74 QDPR PCBD1 PAH
4
Show member pathways
11.27 SOD1 NOS3 NOS1
5
Show member pathways
11.25 SPR PTS NOS3 GCH1 DHFR
6
Show member pathways
11.03 SOD1 NOS3 NOS1
7 11 NOS3 NOS1
8
Show member pathways
10.96 NOS3 NOS1
9 10.92 NOS3 NOS1
10
Show member pathways
10.87 TH PAH
11 10.81 TH PRL
12 10.77 HPRT1 DHFR
13
Show member pathways
10.69 TH SPR QDPR PTS PCBD1 PAH
14 10.6 TH SOD1
15 10.55 NOS3 NOS1
16 10.27 NOS3 NOS1

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 TH SPR SOD1 QDPR PTS PCBD1
2 cytosol GO:0005829 9.4 TH SPR SOD1 QDPR PTS PCBD1
3 vesicle membrane GO:0012506 9.26 NOS3 NOS1
4 endosome lumen GO:0031904 8.96 PRL GH1

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 TH NOS3 NOS1 GCH1
2 locomotory behavior GO:0007626 9.79 TH SOD1 HPRT1
3 regulation of blood pressure GO:0008217 9.73 SOD1 NOS3 GCH1
4 response to heat GO:0009408 9.69 SOD1 NOS3 NOS1
5 response to amphetamine GO:0001975 9.67 TH SOD1 HPRT1
6 response to nutrient levels GO:0031667 9.67 TH SOD1 PRL GH1
7 cellular amino acid metabolic process GO:0006520 9.66 QDPR PTS
8 positive regulation of JAK-STAT cascade GO:0046427 9.66 PRL GH1
9 regulation of multicellular organism growth GO:0040014 9.65 SOD1 PRL
10 positive regulation of nitric-oxide synthase activity GO:0051000 9.65 GCH1 DHFR
11 regulation of nitric-oxide synthase activity GO:0050999 9.65 SPR NOS3
12 regulation of sodium ion transport GO:0002028 9.64 NOS3 NOS1
13 nitric oxide mediated signal transduction GO:0007263 9.64 NOS3 NOS1
14 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.63 PRL GH1
15 negative regulation of calcium ion transport GO:0051926 9.63 NOS3 NOS1
16 negative regulation of blood pressure GO:0045776 9.63 NOS3 NOS1 GCH1
17 removal of superoxide radicals GO:0019430 9.62 SOD1 NOS3
18 positive regulation of guanylate cyclase activity GO:0031284 9.61 NOS3 NOS1
19 negative regulation of potassium ion transport GO:0043267 9.61 NOS3 NOS1
20 vasodilation GO:0042311 9.61 NOS3 NOS1 GCH1
21 oxidation-reduction process GO:0055114 9.61 TH SPR SOD1 QDPR PCBD1 PAH
22 dopamine biosynthetic process GO:0042416 9.6 TH GCH1
23 aromatic amino acid family metabolic process GO:0009072 9.59 TH PAH
24 negative regulation of hydrolase activity GO:0051346 9.58 NOS3 NOS1
25 regulation of removal of superoxide radicals GO:2000121 9.58 GCH1 DHFR
26 neurotransmitter biosynthetic process GO:0042136 9.58 TH PAH NOS1
27 arginine catabolic process GO:0006527 9.57 NOS3 NOS1
28 nitric oxide biosynthetic process GO:0006809 9.56 SPR NOS3 NOS1 GCH1
29 tetrahydrofolate biosynthetic process GO:0046654 9.55 GCH1 DHFR
30 catecholamine biosynthetic process GO:0042423 9.54 TH PAH
31 L-phenylalanine catabolic process GO:0006559 9.5 QDPR PCBD1 PAH
32 dihydrobiopterin metabolic process GO:0051066 9.48 QDPR GCH1
33 cofactor metabolic process GO:0051186 9.46 SPR PTS NOS3 GCH1
34 tetrahydrobiopterin biosynthetic process GO:0006729 9.1 SPR QDPR PTS PCBD1 GCH1 DHFR

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.15 TH SOD1 PTS PAH NOS3 NOS1
2 identical protein binding GO:0042802 10.02 SOD1 QDPR PTS PCBD1 HPRT1 GCH1
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 9.54 NOS3 NOS1
4 NADPH binding GO:0070402 9.52 QDPR DHFR
5 FMN binding GO:0010181 9.51 NOS3 NOS1
6 arginine binding GO:0034618 9.48 NOS3 NOS1
7 NADPH-hemoprotein reductase activity GO:0003958 9.46 NOS3 NOS1
8 NADP binding GO:0050661 9.46 SPR NOS3 NOS1 DHFR
9 cadmium ion binding GO:0046870 9.43 NOS3 NOS1
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 9.4 TH PAH
11 nitric-oxide synthase activity GO:0004517 9.37 NOS3 NOS1
12 phenylalanine 4-monooxygenase activity GO:0004505 9.32 PCBD1 PAH
13 prolactin receptor binding GO:0005148 9.26 PRL GH1
14 oxidoreductase activity GO:0016491 9.23 TH SPR SOD1 QDPR PAH NOS3
15 tetrahydrobiopterin binding GO:0034617 9.13 TH NOS3 NOS1

Sources for Tetrahydrobiopterin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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