MCID: TTR005
MIFTS: 48

Tetrahydrobiopterin Deficiency

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

Aliases & Classifications for Tetrahydrobiopterin Deficiency

MalaCards integrated aliases for Tetrahydrobiopterin Deficiency:

Name: Tetrahydrobiopterin Deficiency 73 20 43
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 20 58 29 6
Hyperphenylalaninemia, Non-Phenylketonuric 20 43 70
Non-Phenylketonuric Hyperphenylalaninemia 20 43 58
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 20 43
Hyperphenylalaninemia Due to Bh4 Deficiency 20 58
Bh4 Deficiency 20 43

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 71 C0751435 C0751436
Orphanet 58 ORPHA238583
UMLS 70 C0751436

Summaries for Tetrahydrobiopterin Deficiency

GARD : 20 Tetrahydrobiopterin (BH4) deficiency causes the body to build up an abnormally high level of phenylalanine, one of the building blocks of proteins. In addition, BH4 deficiency leads to low levels of certain neurotransmitters, chemical messengers that control many body functions. Symptoms can range from very mild to severe. Babies with BH4 deficiency appear normal at birth but may develop neurological symptoms such as abnormal muscle tone, poor head control, seizures, and delayed motor development. Without treatment, the condition can cause permanent intellectual disability. BH4 deficiency is caused by pathogenic variants in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and blood and urine tests. BH4 deficiency is sometimes diagnosed based on the results of an abnormal newborn screening test. Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet, oral BH4 supplementation, and neurotransmitter replacement.

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

MedlinePlus Genetics : 43 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.

Wikipedia : 73 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 94)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 31.8 TH QDPR PTS GCH1
2 hyperphenylalaninemia, bh4-deficient, a 31.5 SPR QDPR PTS PCBD1 PAH GCH1
3 classic phenylketonuria 30.5 QDPR PTS PAH
4 phenylketonuria 30.0 TH QDPR PTS PCBD1 PAH GCH1
5 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 29.9 SPR QDPR PCBD1 GCH1
6 mild hyperphenylalaninemia 29.8 QDPR PTS PCBD1 PAH
7 movement disease 29.5 TH SPR HPRT1 GCH1
8 hyperphenylalaninemia 28.9 TH SPR SOD1 QDPR PTS PCBD1
9 parkinson disease, late-onset 28.3 TH SPR SOD1 QDPR PAH NOS1
10 dystonia 27.7 TH SPR QDPR PTS PRL PCBD1
11 hyperphenylalaninemia, bh4-deficient, c 11.1
12 hyperphenylalaninemia, mild, non-bh4-deficient 11.1
13 hyperphenylalaninemia, bh4-deficient, d 11.0
14 megaloblastic anemia due to dihydrofolate reductase deficiency 11.0
15 hemidystonia 10.3 SPR GCH1
16 oculogyric crisis 10.3 SPR GCH1
17 multifocal dystonia 10.3 SPR GCH1
18 cutis laxa, autosomal dominant 3 10.2 GCH1 DHFR
19 pyridoxamine 5-prime-phosphate oxidase deficiency 10.2 SPR QDPR
20 cutis laxa, autosomal dominant 2 10.2 GCH1 DHFR
21 hereditary dystonia 10.2 TH GCH1
22 segawa syndrome, autosomal recessive 10.2 TH GCH1
23 tyrosinemia 10.1 QDPR PTS PAH
24 fibrous dysplasia/mccune-albright syndrome 10.1 PRL GH1
25 adenohypophysitis 10.1 PRL GH1
26 chromophobe adenoma 10.0 PRL GH1
27 gigantism 10.0 PRL GH1
28 tsh producing pituitary tumor 10.0 PRL GH1
29 intestinal perforation 10.0 PTS NOS1
30 hypothyroidism, congenital, nongoitrous, 4 10.0 PRL GH1
31 pituitary-dependent cushing's disease 10.0 PRL GH1
32 dystonia, dopa-responsive 10.0 TH SPR GCH1
33 cervical dystonia 10.0 TH SPR GCH1
34 hypothalamic disease 10.0 PRL GH1
35 partial third-nerve palsy 10.0 PRL GH1
36 pituitary apoplexy 10.0 PRL GH1
37 empty sella syndrome 10.0 PRL GH1
38 hyperpituitarism 10.0 PRL GH1
39 abdominal obesity-metabolic syndrome 1 10.0 PTS PAH NOS3
40 van maldergem syndrome 1 10.0 PRL GH1
41 pituitary adenoma 1, multiple types 10.0 PRL GH1
42 paroxysmal dystonia 10.0 TH NOS1
43 anterior cerebral artery infarction 9.9 TH PRL
44 gangliocytoma 9.9 TH PRL
45 pituitary tumors 9.9 PRL GH1
46 triiodothyronine receptor auxiliary protein 9.9
47 persistent hyperplastic primary vitreous, autosomal recessive 9.9
48 cerebral degeneration 9.9
49 neuropathy, hereditary sensory and autonomic, type viii 9.9 SOD1 HPRT1
50 pseudohypoparathyroidism, type ia 9.9 PRL GH1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
2 behavior/neurological MP:0005386 10.18 GCH1 HPRT1 NOS1 NOS3 PAH PRL
3 growth/size/body region MP:0005378 10.16 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
4 mortality/aging MP:0010768 10.06 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
5 integument MP:0010771 10.01 DHFR HPRT1 PAH PCBD1 PRL PTS
6 liver/biliary system MP:0005370 9.97 DHFR GCH1 HPRT1 NOS1 NOS3 PRL
7 nervous system MP:0003631 9.9 DHFR GCH1 HPRT1 NOS1 NOS3 PAH
8 muscle MP:0005369 9.73 DHFR HPRT1 NOS1 NOS3 PTS SOD1
9 renal/urinary system MP:0005367 9.43 HPRT1 NOS1 NOS3 PAH PCBD1 TH
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate the Safety, Pharmacokinetics and Preliminary Efficacy of CNSA-001(Sepiapterin) in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Completed NCT03519711 Phase 1, Phase 2 CNSA-001
2 Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
3 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
4 Kuvan® Adult Maternal Pediatric European Registry Active, not recruiting NCT01016392

Search NIH Clinical Center for Tetrahydrobiopterin Deficiency

Genetic Tests for Tetrahydrobiopterin Deficiency

Genetic tests related to Tetrahydrobiopterin Deficiency:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 29

Anatomical Context for Tetrahydrobiopterin Deficiency

MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

40
Endothelial

Publications for Tetrahydrobiopterin Deficiency

Articles related to Tetrahydrobiopterin Deficiency:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. 6 61
25304915 2015
2
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. 61 6
25418970 2015
3
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing. 6 61
25456745 2014
4
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. 6 61
23138986 2013
5
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. 61 6
19280650 2009
6
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. 61 6
18505119 2008
7
[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients]. 6 61
17160954 2006
8
6-pyruvoyltetrahydropterin synthase deficiency two-case report. 6 61
16850690 2006
9
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. 6 61
10874306 2000
10
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 6 61
8326489 1993
11
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. 6 61
3297709 1987
12
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. 6
29499199 2018
13
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia. 6
27619486 2017
14
Validation of copy number variation analysis for next-generation sequencing diagnostics. 6
28378820 2017
15
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 6
27246466 2017
16
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 6
27629047 2016
17
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 6
27243974 2016
18
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene. 6
26400349 2015
19
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 6
25758715 2015
20
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
21
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations. 6
26006720 2015
22
Recessive mutations in PCBD1 cause a new type of early-onset diabetes. 6
24848070 2014
23
Disease variants in genomes of 44 centenarians. 6
25333069 2014
24
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 6
25087612 2014
25
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. 6
23942198 2014
26
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. 6
24204001 2014
27
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. 6
24368688 2014
28
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. 6
23842451 2013
29
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients. 6
23211702 2013
30
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 6
23500595 2013
31
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease. 6
23430498 2013
32
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 6
23762320 2013
33
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. 6
22698810 2012
34
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. 6
22237589 2012
35
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 6
21953985 2012
36
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. 6
21933604 2011
37
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. 6
20842687 2011
38
A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population. 6
20491893 2011
39
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. 6
20187889 2010
40
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. 6
20082337 2010
41
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 6
20059486 2010
42
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. 6
20108370 2010
43
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 6
19332422 2009
44
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 6
19491146 2009
45
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]. 6
19350512 2009
46
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 6
18294361 2008
47
Frequency of GCH1 deletions in Dopa-responsive dystonia. 6
17898029 2008
48
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 6
17935162 2008
49
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 6
17101830 2006
50
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 6
16917893 2006

Variations for Tetrahydrobiopterin Deficiency

ClinVar genetic disease variations for Tetrahydrobiopterin Deficiency:

6 (show top 50) (show all 326)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCBD1 NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln) SNV Pathogenic 180130 rs115117837 GRCh37: 10:72643759-72643759
GRCh38: 10:70884002-70884002
2 PCBD1 NM_000281.4(PCBD1):c.272del (p.Asn91fs) Deletion Pathogenic 802585 rs1589483932 GRCh37: 10:72643750-72643750
GRCh38: 10:70883993-70883993
3 PCBD1 NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln) SNV Pathogenic 428616 rs770334825 GRCh37: 10:72643709-72643709
GRCh38: 10:70883952-70883952
4 GCH1 NM_000161.3(GCH1):c.633G>A (p.Met211Ile) SNV Pathogenic 9287 rs104894443 GRCh37: 14:55310855-55310855
GRCh38: 14:54844137-54844137
5 GCH1 NM_000161.3(GCH1):c.551G>A (p.Arg184His) SNV Pathogenic 9290 rs104894445 GRCh37: 14:55312561-55312561
GRCh38: 14:54845843-54845843
6 PTS NM_000317.3(PTS):c.286G>A (p.Asp96Asn) SNV Pathogenic 484 rs104894280 GRCh37: 11:112103928-112103928
GRCh38: 11:112233205-112233205
7 PTS NM_000317.3(PTS):c.163+696_163+750del Deletion Pathogenic 485 rs1555198165 GRCh37: 11:112100090-112100144
GRCh38: 11:112229367-112229421
8 PTS NM_000317.3(PTS):c.84-323A>T SNV Pathogenic 486 rs794726657 GRCh37: 11:112098994-112098994
GRCh38: 11:112228271-112228271
9 QDPR QDPR, 3-BP INS, 390ACT Insertion Pathogenic 489 GRCh37:
GRCh38:
10 QDPR NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) SNV Pathogenic 490 rs104893863 GRCh37: 4:17513610-17513610
GRCh38: 4:17511987-17511987
11 QDPR NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) SNV Pathogenic 491 rs104893864 GRCh37: 4:17503456-17503456
GRCh38: 4:17501833-17501833
12 QDPR NM_000320.3(QDPR):c.106T>C (p.Trp36Arg) SNV Pathogenic 492 rs104893865 GRCh37: 4:17510986-17510986
GRCh38: 4:17509363-17509363
13 QDPR QDPR, IVS3, A-G, 152-BP INS Insertion Pathogenic 493 GRCh37:
GRCh38:
14 QDPR NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) SNV Pathogenic 494 rs104893866 GRCh37: 4:17493951-17493951
GRCh38: 4:17492328-17492328
15 QDPR NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) SNV Pathogenic 495 rs104893867 GRCh37: 4:17506027-17506027
GRCh38: 4:17504404-17504404
16 GCH1 NM_000161.3(GCH1):c.26_27insTCT (p.Ala10_Glu11insLeu) Insertion Pathogenic 803029 rs1595031768 GRCh37: 14:55369355-55369356
GRCh38: 14:54902637-54902638
17 PTS NM_000317.3(PTS):c.74G>A (p.Arg25Gln) SNV Pathogenic 476 rs104894273 GRCh37: 11:112097240-112097240
GRCh38: 11:112226517-112226517
18 PTS NM_000317.3(PTS):c.155A>G (p.Asn52Ser) SNV Pathogenic 479 rs104894275 GRCh37: 11:112099388-112099388
GRCh38: 11:112228665-112228665
19 PTS NM_000317.3(PTS):c.259C>T (p.Pro87Ser) SNV Pathogenic 480 rs104894276 GRCh37: 11:112103901-112103901
GRCh38: 11:112233178-112233178
20 PCBD1 NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) SNV Pathogenic 16796 rs104894177 GRCh37: 10:72643778-72643778
GRCh38: 10:70884021-70884021
21 PCBD1 NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile) SNV Pathogenic 16797 rs121913014 GRCh37: 10:72643786-72643786
GRCh38: 10:70884029-70884029
22 GCH1 NC_000014.9:g.(?_54865307)_(54865456_?)del Deletion Pathogenic 465757 GRCh37: 14:55332025-55332174
GRCh38: 14:54865307-54865456
23 GCH1 NM_000161.3(GCH1):c.344-1G>C SNV Pathogenic 465761 rs1555360050 GRCh37: 14:55332155-55332155
GRCh38: 14:54865437-54865437
24 PTS NM_000317.3(PTS):c.73C>G (p.Arg25Gly) SNV Pathogenic 463153 rs1167104933 GRCh37: 11:112097239-112097239
GRCh38: 11:112226516-112226516
25 PTS NM_000317.3(PTS):c.200C>T (p.Thr67Met) SNV Pathogenic 463151 rs370340361 GRCh37: 11:112101362-112101362
GRCh38: 11:112230639-112230639
26 GCH1 NM_000161.3(GCH1):c.541+1G>C SNV Pathogenic 465762 rs1555358599 GRCh37: 14:55313816-55313816
GRCh38: 14:54847098-54847098
27 GCH1 NM_000161.3(GCH1):c.344-1G>A SNV Pathogenic 529413 rs1555360050 GRCh37: 14:55332155-55332155
GRCh38: 14:54865437-54865437
28 GCH1 NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) SNV Pathogenic 9282 rs104894435 GRCh37: 14:55369059-55369059
GRCh38: 14:54902341-54902341
29 GCH1 NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) Indel Pathogenic 529414 rs1555362845 GRCh37: 14:55369185-55369196
GRCh38: 14:54902467-54902478
30 GCH1 NC_000014.9:g.(?_54902301)_(54902683_?)del Deletion Pathogenic 529416 GRCh37: 14:55369019-55369401
GRCh38: 14:54902301-54902683
31 QDPR NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter) SNV Pathogenic 567509 rs1171544975 GRCh37: 4:17513630-17513630
GRCh38: 4:17512007-17512007
32 GCH1 NM_000161.3(GCH1):c.220_223del (p.Ala74fs) Deletion Pathogenic 573159 rs1566687321 GRCh37: 14:55369159-55369162
GRCh38: 14:54902441-54902444
33 overlap with 73 genes Inversion Pathogenic 626310 GRCh37:
GRCh38: 4:8398067-17505522
34 PTS NM_000317.3(PTS):c.159T>G (p.Tyr53Ter) SNV Pathogenic 638994 rs781197929 GRCh37: 11:112099392-112099392
GRCh38: 11:112228669-112228669
35 GCH1 NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) SNV Pathogenic 640160 rs1594971274 GRCh37: 14:55313826-55313826
GRCh38: 14:54847108-54847108
36 GCH1 NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG Indel Pathogenic 641360 rs1594982939 GRCh37: 14:55326396-55326398
GRCh38: 14:54859678-54859680
37 GCH1 NM_000161.3(GCH1):c.127_130dup (p.Ala44fs) Duplication Pathogenic 641586 rs1595031524 GRCh37: 14:55369251-55369252
GRCh38: 14:54902533-54902534
38 GCH1 NM_000161.3(GCH1):c.1A>G (p.Met1Val) SNV Pathogenic 642685 rs1555362907 GRCh37: 14:55369381-55369381
GRCh38: 14:54902663-54902663
39 GCH1 NC_000014.9:g.(?_54865317)_(54865446_?)del Deletion Pathogenic 652965 GRCh37: 14:55332035-55332164
GRCh38: 14:54865317-54865446
40 QDPR NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) SNV Pathogenic 802058 rs779997983 GRCh37: 4:17488828-17488828
GRCh38: 4:17487205-17487205
41 QDPR NM_000320.3(QDPR):c.421del (p.Leu141fs) Deletion Pathogenic 802059 rs1577191558 GRCh37: 4:17503357-17503357
GRCh38: 4:17501734-17501734
42 QDPR NM_000320.3(QDPR):c.174del (p.Ser59fs) Deletion Pathogenic 802060 rs1577195951 GRCh37: 4:17510918-17510918
GRCh38: 4:17509295-17509295
43 PTS NM_000317.3(PTS):c.272A>G (p.Lys91Arg) SNV Pathogenic 813419 rs761285716 GRCh37: 11:112103914-112103914
GRCh38: 11:112233191-112233191
44 PTS NC_000011.10:g.(?_112226444)_(112233555_?)del Deletion Pathogenic 831225 GRCh37: 11:112097167-112104278
GRCh38:
45 PTS NC_000011.10:g.(?_112226434)_(112226536_?)del Deletion Pathogenic 832307 GRCh37: 11:112097157-112097259
GRCh38:
46 GCH1 NC_000014.9:g.(?_54902311)_(54902702_?)del Deletion Pathogenic 832331 GRCh37: 14:55369029-55369420
GRCh38:
47 GCH1 NC_000014.9:g.(?_54859671)_(54865446_?)del Deletion Pathogenic 832851 GRCh37: 14:55326389-55332164
GRCh38:
48 GCH1 NM_000161.3(GCH1):c.76del (p.Asp26fs) Deletion Pathogenic 647643 rs1595031674 GRCh37: 14:55369306-55369306
GRCh38: 14:54902588-54902588
49 PTS NM_000317.3(PTS):c.84-291A>G SNV Pathogenic 649292 rs1480995114 GRCh37: 11:112099026-112099026
GRCh38: 11:112228303-112228303
50 GCH1 NM_000161.3(GCH1):c.473del (p.Pro158fs) Deletion Pathogenic 848233 GRCh37: 14:55326435-55326435
GRCh38: 14:54859717-54859717

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 TH SPR QDPR PTS PCBD1 PAH
2
Show member pathways
12.19 TH PRL NOS3 GH1
3
Show member pathways
11.85 SPR PTS GCH1 DHFR
4
Show member pathways
11.76 QDPR PCBD1 PAH
5
Show member pathways
11.32 SOD1 NOS3 NOS1
6
Show member pathways
11.25 SPR PTS NOS3 GCH1 DHFR
7
Show member pathways
11.03 SOD1 NOS3 NOS1
8 11.01 NOS3 NOS1
9
Show member pathways
10.99 NOS3 NOS1
10 10.93 NOS3 NOS1
11
Show member pathways
10.88 TH PAH
12 10.83 TH PRL
13 10.79 HPRT1 DHFR
14
Show member pathways
10.69 TH SPR QDPR PTS PCBD1 PAH
15 10.62 TH SOD1
16 10.57 NOS3 NOS1
17 10.31 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 27)
# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.81 TH NOS3 NOS1 GCH1
2 locomotory behavior GO:0007626 9.76 TH SOD1 HPRT1
3 regulation of blood pressure GO:0008217 9.72 SOD1 NOS3 GCH1
4 response to heat GO:0009408 9.67 SOD1 NOS3 NOS1
5 response to nutrient levels GO:0031667 9.67 TH SOD1 PRL GH1
6 response to amphetamine GO:0001975 9.65 TH SOD1 HPRT1
7 regulation of multicellular organism growth GO:0040014 9.63 SOD1 PRL
8 positive regulation of nitric-oxide synthase activity GO:0051000 9.63 GCH1 DHFR
9 regulation of nitric-oxide synthase activity GO:0050999 9.62 SPR NOS3
10 nitric oxide mediated signal transduction GO:0007263 9.62 NOS3 NOS1
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.61 PRL GH1
12 removal of superoxide radicals GO:0019430 9.61 SOD1 NOS3
13 negative regulation of blood pressure GO:0045776 9.61 NOS3 NOS1 GCH1
14 oxidation-reduction process GO:0055114 9.61 TH SPR SOD1 QDPR PCBD1 PAH
15 dopamine biosynthetic process GO:0042416 9.6 TH GCH1
16 positive regulation of guanylate cyclase activity GO:0031284 9.59 NOS3 NOS1
17 aromatic amino acid family metabolic process GO:0009072 9.58 TH PAH
18 vasodilation GO:0042311 9.58 NOS3 NOS1 GCH1
19 regulation of removal of superoxide radicals GO:2000121 9.57 GCH1 DHFR
20 arginine catabolic process GO:0006527 9.56 NOS3 NOS1
21 tetrahydrofolate biosynthetic process GO:0046654 9.54 GCH1 DHFR
22 catecholamine biosynthetic process GO:0042423 9.52 TH PAH
23 neurotransmitter biosynthetic process GO:0042136 9.5 TH PAH NOS1
24 dihydrobiopterin metabolic process GO:0051066 9.46 QDPR GCH1
25 nitric oxide biosynthetic process GO:0006809 9.46 SPR NOS3 NOS1 GCH1
26 L-phenylalanine catabolic process GO:0006559 9.43 QDPR PCBD1 PAH
27 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 10.18 TH SOD1 PTS PAH NOS3 NOS1
2 identical protein binding GO:0042802 10.02 TH SOD1 QDPR PTS PCBD1 HPRT1
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 NOS3 NOS1
4 FMN binding GO:0010181 9.54 NOS3 NOS1
5 NADPH binding GO:0070402 9.51 QDPR DHFR
6 arginine binding GO:0034618 9.49 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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