HPA
MCID: HYP141
MIFTS: 49

Hyperphenylalaninemia (HPA) malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperphenylalaninemia

Aliases & Descriptions for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 71 24 56 29 52
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 56 29
Hyperphenylalaninemia Due to Bh4 Deficiency 56
Hyperphenylalaninemia, Non-Phenylketonuric 69
Non-Phenylketonuric Hyperphenylalaninemia 56
Hyperphenylalaninaemia 69
Hpa 24

Characteristics:

Orphanet epidemiological data:

56
hyperphenylalaninemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA238583
UMLS via Orphanet 70 C0751436
ICD10 via Orphanet 34 E70.1

Summaries for Hyperphenylalaninemia

MalaCards based summary : Hyperphenylalaninemia, also known as hyperphenylalaninemia due to tetrahydrobiopterin deficiency, is related to hyperphenylalaninemia, bh4-deficient, d and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Hyperphenylalaninemia is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Neuroscience. The drugs Verapamil and calcium channel blockers have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and behavior/neurological

Wikipedia : 71 Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations... more...

Related Diseases for Hyperphenylalaninemia

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

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, d 12.2
2 hyperphenylalaninemia, bh4-deficient, a 12.2
3 hyperphenylalaninemia, bh4-deficient, c 12.2
4 hyperphenylalaninemia, bh4-deficient, b 12.2
5 phenylketonuria 11.9
6 mild hyperphenylalaninemia 11.9
7 maternal hyperphenylalaninemia 11.9
8 hyperphenylalaninemia due to dehydratase deficiency 11.8
9 hyperphenylalaninemia, mild and non-bh4-deficient 11.7
10 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 11.7
11 dystonia, dopa-responsive, with or without hyperphenylalaninemia 11.7
12 tetrahydrobiopterin deficiency 11.5
13 gtp cyclohydrolase i deficiency 11.3
14 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
15 tyrosine hydroxylase-deficient dopa-responsive dystonia 10.7
16 segawa syndrome, recessive 10.7
17 x-linked intellectual disability, seemanova type 10.2 PAH PTS QDPR
18 idiopathic malabsorption due to bile acid synthesis defects 10.1 PAH PCBD1 PTS QDPR
19 cerebritis 10.1
20 nail disorder, nonsyndromic congenital, 7 10.1 CAT GCH1 PCBD1
21 neurological manifestations of pompe disease 10.1 CAT SOD1
22 vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome 10.0 GCH1 TH
23 spinocerebellar ataxia, autosomal recessive 7 10.0 GCH1 TH
24 tendinopathy 10.0 G6PD SOD1
25 dystonia 10.0
26 halal setton wang syndrome 9.9 GCH1 PTS QDPR TH
27 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 9.9 MBP TH
28 hypothyroidism 9.8
29 tyrosinemia 9.8
30 eccrine acrospiroma 9.7 GCH1 SPR TH
31 leukemia 9.7
32 congenital hypothyroidism 9.7
33 vitamin b12 deficiency 9.7
34 virus associated hemophagocytic syndrome 9.7
35 lymphoblastic leukemia 9.7
36 microcephaly 9.7
37 intellectual disability 9.7
38 histiocytosis 9.7
39 encephalopathy 9.7
40 galactosemia 9.7
41 hypotonia 9.7
42 thyroiditis 9.7
43 neuronitis 9.7
44 malignant histiocytosis 9.7
45 homocystinuria 9.7
46 hemochromatosis 9.7
47 burns 9.7
48 7q11.23 duplication syndrome 9.3 GCH1 NOS1 PAH PCBD1 PTS QDPR
49 schizophrenia 9.3 CACNA1C CNP MBP NOS1 TH TPH1
50 leopard syndrome 1 9.3 BGLAP G6PD GCH1 PAH PCBD1 PTS

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to Hyperphenylalaninemia

Symptoms & Phenotypes for Hyperphenylalaninemia

GenomeRNAi Phenotypes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 SPR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.6 SPR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.6 DNAJC12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.6 DNAJC12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.6 DNAJC12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.6 DNAJC12
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.6 DNAJC12
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.6 DNAJC12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.6 DNAJC12
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 DNAJC12
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.6 GCH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 DNAJC12
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.6 SPR
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 PRKG2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.6 GCH1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.6 PRKG2 SPR DNAJC12 GCH1

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CACNA1C CNP MBP NEFH NOS1 PAH
2 homeostasis/metabolism MP:0005376 10.03 SPR TH TPH1 CACNA1C CAT CNP
3 cellular MP:0005384 10.02 SOD1 TH CACNA1C CAT CNP G6PD
4 growth/size/body region MP:0005378 10 NOS1 PAH PRKG2 PTS SOD1 SPR
5 nervous system MP:0003631 9.7 CACNA1C CNP G6PD MBP NEFH NOS1
6 vision/eye MP:0005391 9.17 CNP MBP NOS1 PAH PCBD1 SOD1

Drugs & Therapeutics for Hyperphenylalaninemia

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

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 2,Phase 1 52-53-9 2520
2 calcium channel blockers Phase 4,Phase 2,Phase 1
3 Vasodilator Agents Phase 4,Phase 2,Phase 1
4 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
5 Calcium, Dietary Phase 4,Phase 2,Phase 1
6 Pharmaceutical Solutions Phase 4
7 Protective Agents Phase 4
8 Antioxidants Phase 4
9 phenylalanine Nutraceutical Phase 3,Phase 2
10
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757 53477783
11
Norgestimate Approved Phase 1 35189-28-7 6540478
12
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
13
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
14 Estradiol valerate Phase 1 979-32-8
15 Contraceptive Agents Phase 1
16 Contraceptives, Oral Phase 1
17 Contraceptives, Oral, Combined Phase 1
18 Norgestimate, ethinyl estradiol drug combination Phase 1
19 Topoisomerase Inhibitors Phase 1
20 Nucleic Acid Synthesis Inhibitors Phase 1
21 Estradiol 17 beta-cypionate Phase 1
22 Estradiol 3-benzoate Phase 1
23 Anti-Bacterial Agents Phase 1
24 Polyestradiol phosphate Phase 1
25 Anti-Infective Agents Phase 1
26 Fluoroquinolones Phase 1
27 Vitamins
28 tyrosine Nutraceutical

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
2 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4
3 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3
4 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3
5 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2
6 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1
7 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1
8 Sapropterin Expanded Access Program Approved for marketing NCT00484991
9 Phenylketonuria and Hyperphenylalaninemia Nutrition Study Completed NCT01879995
10 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
11 Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study Completed NCT01924026
12 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
13 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
14 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299
15 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency Recruiting NCT01016392
16 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Recruiting NCT00778206
17 Study of a National Cohort of Adult Patients With Phenylketonuria Active, not recruiting NCT01619722
18 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Enrolling by invitation NCT03167697
19 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

Genetic tests related to Hyperphenylalaninemia:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia 29 24
2 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 29

Anatomical Context for Hyperphenylalaninemia

MalaCards organs/tissues related to Hyperphenylalaninemia:

39
Brain, Testes, Liver, Cortex, Bone, Fetal Brain, Cerebellum

Publications for Hyperphenylalaninemia

Articles related to Hyperphenylalaninemia:

(show top 50) (show all 307)
id Title Authors Year
1
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. ( 28504493 )
2017
2
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. ( 28293905 )
2017
3
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. ( 28132689 )
2017
4
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. ( 26822703 )
2016
5
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. ( 26910740 )
2016
6
Genetic background of hyperphenylalaninemia in Nagasaki, Japan. ( 27173423 )
2016
7
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
8
Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? ( 26226119 )
2015
9
Vitamin and mineral status in patients with hyperphenylalaninemia. ( 26123187 )
2015
10
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. ( 25726095 )
2015
11
Micronutrient in hyperphenylalaninemia. ( 26322328 )
2015
12
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program. ( 26635939 )
2015
13
Hyperphenylalaninemia and the genomic revolution. ( 25549965 )
2015
14
Prevalence of neonatal hyperphenylalaninemia in yazd province, iran. ( 25999633 )
2015
15
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. ( 25825540 )
2015
16
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong. ( 24803483 )
2014
17
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring-Implications for clinical management of patients with hyperphenylalaninemia. ( 25261586 )
2014
18
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. ( 25237320 )
2014
19
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeqa8c panel and Ion Torrent PGM sequencing. ( 25456745 )
2014
20
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. ( 24078561 )
2013
21
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - Whom and what to screen? ( 24246852 )
2013
22
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. ( 23357515 )
2013
23
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. ( 24376837 )
2013
24
Mutation analysis in hyperphenylalaninemia patients from South Italy. ( 23792259 )
2013
25
Antioxidant treatment strategies for hyperphenylalaninemia. ( 23657560 )
2013
26
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. ( 23942198 )
2013
27
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. ( 23771645 )
2013
28
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia. ( 24032682 )
2013
29
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. ( 23537842 )
2013
30
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. ( 24133926 )
2013
31
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. ( 23436109 )
2013
32
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. ( 22205310 )
2012
33
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. ( 22644647 )
2012
34
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. ( 21336059 )
2011
35
Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''. ( 21285043 )
2011
36
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. ( 20818608 )
2011
37
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. ( 20842687 )
2011
38
Neurocognitive function in mild hyperphenylalaninemia. ( 21418193 )
2011
39
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. ( 20823030 )
2011
40
Mild hyperphenylalaninemia: to treat or not to treat. ( 21347590 )
2011
41
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. ( 21933604 )
2011
42
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. ( 21632269 )
2011
43
Incidence of neonatal hyperphenylalaninemia in fars province, South iran. ( 23056707 )
2010
44
Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases. ( 20649554 )
2010
45
Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain. ( 20226470 )
2010
46
Spotlight on sapropterin in primary hyperphenylalaninemia. ( 19627172 )
2009
47
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. ( 18346471 )
2008
48
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. ( 18321666 )
2008
49
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. ( 18276179 )
2008
50
Use of acute hyperphenylalaninemia in rhesus monkeys to examine sensitivity and stability of the L-[1-11C]leucine method for measurement of regional rates of cerebral protein synthesis with PET. ( 18431402 )
2008

Variations for Hyperphenylalaninemia

Expression for Hyperphenylalaninemia

Search GEO for disease gene expression data for Hyperphenylalaninemia.

Pathways for Hyperphenylalaninemia

Pathways related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 CACNA1C CAT G6PD GCH1 NOS1 PAH
2 12.01 CNP MBP NEFH NOS1 SOD1 TH
3
Show member pathways
11.81 PAH PCBD1 QDPR
4
Show member pathways
11.68 CAT NEFH NOS1 SOD1
5 11.49 NEFH NOS1 SOD1
6
Show member pathways
11.35 GCH1 PRKG2 PTS SPR
7
Show member pathways
11.21 CAT NOS1 SOD1
8
Show member pathways
10.78 PAH TH TPH1
9 10.67 SOD1 TH
10 10.62 NOS1 PRKG2
11 10.57 CACNA1C TH
12 10.36 CNP MBP
13 10.13 GCH1 PTS QDPR SPR
14 9.88 PAH QDPR

GO Terms for Hyperphenylalaninemia

Cellular components related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.87 CAT NEFH NOS1 PTS QDPR SOD1
2 cytosol GO:0005829 9.77 CAT G6PD GCH1 NOS1 PAH PCBD1
3 neuron projection GO:0043005 9.56 QDPR SOD1 TH TPH1
4 myelin sheath GO:0043209 8.92 CNP MBP NEFH SOD1
5 cytoplasm GO:0005737 10 BGLAP CACNA1C CNP G6PD GCH1 NEFH

Biological processes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.91 BGLAP CAT SOD1 TH
2 aging GO:0007568 9.84 BGLAP CAT CNP SOD1
3 response to toxic substance GO:0009636 9.76 CAT CNP MBP
4 cellular response to oxidative stress GO:0034599 9.75 CAT G6PD SOD1
5 response to nutrient levels GO:0031667 9.72 BGLAP SOD1 TH
6 response to ethanol GO:0045471 9.72 BGLAP CAT G6PD SOD1 TH
7 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP CAT NOS1 TH
8 response to activity GO:0014823 9.69 BGLAP CAT TH
9 substantia nigra development GO:0021762 9.67 CNP G6PD MBP
10 oxidation-reduction process GO:0055114 9.65 CAT G6PD NOS1 PAH PCBD1 QDPR
11 neurotransmitter biosynthetic process GO:0042136 9.63 NOS1 PAH TH
12 vasodilation GO:0042311 9.61 GCH1 NOS1
13 nitric oxide biosynthetic process GO:0006809 9.61 GCH1 NOS1 SPR
14 response to lead ion GO:0010288 9.6 CAT QDPR
15 response to reactive oxygen species GO:0000302 9.59 CAT SOD1
16 dopamine biosynthetic process GO:0042416 9.57 GCH1 TH
17 neurofilament cytoskeleton organization GO:0060052 9.56 NEFH SOD1
18 L-phenylalanine catabolic process GO:0006559 9.54 PAH PCBD1 QDPR
19 catecholamine biosynthetic process GO:0042423 9.52 PAH TH
20 dihydrobiopterin metabolic process GO:0051066 9.48 GCH1 QDPR
21 regulation of nitric-oxide synthase activity GO:0050999 9.46 GCH1 PRKG2 PTS SPR
22 aromatic amino acid family metabolic process GO:0009072 9.43 PAH TH TPH1
23 tetrahydrobiopterin biosynthetic process GO:0006729 9.02 GCH1 PCBD1 PTS QDPR SPR

Molecular functions related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.87 CAT G6PD GCH1 PRKG2 PTS QDPR
2 iron ion binding GO:0005506 9.73 NOS1 PAH TH TPH1
3 NADP binding GO:0050661 9.46 CAT G6PD NOS1 SPR
4 amino acid binding GO:0016597 9.43 PAH TH TPH1
5 tetrahydrobiopterin binding GO:0034617 9.4 NOS1 TH
6 phenylalanine 4-monooxygenase activity GO:0004505 9.37 PAH PCBD1
7 oxidoreductase activity GO:0016491 9.28 CAT G6PD NOS1 PAH QDPR SOD1
8 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 9.13 PAH TH TPH1

Sources for Hyperphenylalaninemia

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
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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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