Aliases & Classifications for Hyperphenylalaninemia

MalaCards integrated aliases for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 77 56
Hyperphenylalaninaemia 74

External Ids:

UMLS 74 C0751435

Summaries for Hyperphenylalaninemia

MalaCards based summary : Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to hyperphenylalaninemia, bh4-deficient, a and hyperphenylalaninemia, bh4-deficient, b. 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 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 77 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 60)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 34.2 GCH1 PAH PCBD1 PTS QDPR
2 hyperphenylalaninemia, bh4-deficient, b 33.9 GCH1 PTS QDPR TH
3 mild hyperphenylalaninemia 33.6 PAH PCBD1 PTS QDPR
4 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 32.7 GCH1 QDPR SPR
5 phenylketonuria 32.6 BGLAP G6PD GCH1 PAH PTS QDPR
6 dystonia, dopa-responsive 31.9 GCH1 SPR TH
7 segawa syndrome, autosomal recessive 31.8 GCH1 TH
8 tetrahydrobiopterin deficiency 31.7 GCH1 NOS1 PAH PCBD1 PTS QDPR
9 hyperphenylalaninemia, bh4-deficient, d 12.7
10 hyperphenylalaninemia, bh4-deficient, c 12.6
11 hyperphenylalaninemia, mild, non-bh4-deficient 12.5
12 maternal hyperphenylalaninemia 12.4
13 hyperphenylalaninemia due to dehydratase deficiency 12.4
14 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 12.1
15 tyrosine-oxidase temporary deficiency 11.1
16 dyt/park-gch1 11.0
17 keratomalacia 10.3 PAH QDPR
18 classic phenylketonuria 10.3 PAH PTS QDPR
19 dystonia 10.3
20 intestinal perforation 10.2 NOS1 PTS
21 congenital methemoglobinemia 10.2 G6PD SOD1
22 polycystic bone disease 10.2
23 hereditary dystonia 10.2 GCH1 TH
24 alacrima, achalasia, and mental retardation syndrome 10.1
25 tyrosinemia 10.1
26 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 CAT PCBD1
27 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0 MBP TH
28 neonatal hypoxic and ischemic brain injury 10.0 MBP TH
29 meningitis and encephalitis 10.0 CAT SOD1
30 meningococcal infection 10.0 G6PD SOD1
31 mood disorder 9.9 CACNA1C TH TPH1
32 galactosemia 9.9
33 hemochromatosis, type 1 9.9
34 maple syrup urine disease 9.9
35 leukemia, acute lymphoblastic 9.9
36 leukemia 9.9
37 congenital hypothyroidism 9.9
38 vitamin b12 deficiency 9.9
39 lymphocytic leukemia 9.9
40 glucose intolerance 9.9
41 hypothyroidism 9.9
42 histiocytosis 9.9
43 mitochondrial metabolism disease 9.9
44 placenta disease 9.9
45 malignant histiocytosis 9.9
46 homocystinuria 9.9
47 microcephaly 9.9
48 juvenile hereditary hemochromatosis 9.9
49 mitochondrial disorders 9.9
50 bowenoid papulosis 9.9

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:

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.91 SPR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 DNAJC12
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.91 DNAJC12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.91 DNAJC12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.91 DNAJC12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.91 DNAJC12
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.91 DNAJC12
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 DNAJC12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.91 DNAJC12
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.91 GCH1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.91 DNAJC12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.91 SPR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.91 PRKG2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 GCH1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.91 DNAJC12 GCH1 PRKG2 SPR
16 no effect GR00402-S-1 9.9 BGLAP CACNA1C CAT CNP DNAJC12 G6PD

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 CACNA1C CAT CNP G6PD GCH1 MBP
2 behavior/neurological MP:0005386 10.14 CACNA1C CNP MBP NEFH NOS1 PAH
3 cellular MP:0005384 10.11 CACNA1C CAT CNP G6PD MBP NEFH
4 growth/size/body region MP:0005378 10.06 CNP G6PD MBP NOS1 PAH PRKG2
5 mortality/aging MP:0010768 9.93 CACNA1C CAT CNP G6PD GCH1 MBP
6 nervous system MP:0003631 9.73 CACNA1C CNP G6PD GCH1 MBP NEFH
7 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 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 2,Phase 1 52-53-9 2520
2
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 1 7440-70-2 271
3 Calcium, Dietary Phase 4,Phase 2,Phase 1
4 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
5 Vasodilator Agents Phase 4,Phase 2,Phase 1
6 Hormones Phase 4,Phase 2,Phase 1
7 calcium channel blockers Phase 4,Phase 2,Phase 1
8 Pharmaceutical Solutions Phase 4
9
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
10
tannic acid Approved Phase 3 1401-55-4
11 phenylalanine Phase 3,Phase 2,Phase 1,Not Applicable
12
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
13
Polyestradiol phosphate Approved Phase 1 28014-46-2
14
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
15
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
16
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
17 Estradiol 3-benzoate Phase 1
18 Contraceptives, Oral Phase 1
19 Topoisomerase Inhibitors Phase 1
20 Contraceptives, Oral, Combined Phase 1
21 Estradiol 17 beta-cypionate Phase 1
22 Contraceptive Agents Phase 1
23 Anti-Bacterial Agents Phase 1
24 Norgestimate, ethinyl estradiol drug combination Phase 1
25 Anti-Infective Agents Phase 1
26
Tyrosine Approved, Investigational, Nutraceutical Not Applicable 60-18-4 6057
27 Vitamins Not Applicable
28 Protective Agents
29 Antioxidants
30 Trace Elements Not Applicable
31 Micronutrients Not Applicable
32 Nutrients Not Applicable

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
2 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3 BMN 165
3 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
4 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
5 A Study of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
6 Gene Therapy Clinical Study in Adult PKU Not yet recruiting NCT03952156 Phase 1, Phase 2
7 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
8 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
9 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
10 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Completed NCT03167697 Not Applicable
11 Phenylketonuria and Hyperphenylalaninemia Nutrition Study Completed NCT01879995
12 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
13 Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study Completed NCT01924026
14 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
15 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
16 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288
17 Retrospective Observational Safety Effectiveness With Kuvan in hpA Completed NCT03864029 KUVAN
18 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299 Not Applicable
19 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Recruiting NCT00778206 Kuvan
20 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
21 Study of a National Cohort of Adult Patients With Phenylketonuria Active, not recruiting NCT01619722
22 Effects of Synergy on Nutrient Intake and Acceptability in Phenylketonuria (PKU) Not yet recruiting NCT03777826 Not Applicable
23 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397 Not Applicable Sapropterin

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

Anatomical Context for Hyperphenylalaninemia

MalaCards organs/tissues related to Hyperphenylalaninemia:

42
Brain, Testes, Bone, Liver, Cortex, Cerebellum, Fetal Brain

Publications for Hyperphenylalaninemia

Articles related to Hyperphenylalaninemia:

(show top 50) (show all 455)
# Title Authors Year
1
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia. ( 30443829 )
2019
2
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan. ( 31000854 )
2019
3
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. ( 28801146 )
2018
4
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma. ( 29317692 )
2018
5
Brain bioenergetics in rats with acute hyperphenylalaninemia. ( 29454001 )
2018
6
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. ( 29499199 )
2018
7
50 Years Ago in The Journal of Pediatrics: Variability in the Manifestations of Phenylketonuria/Transient Hyperphenylalaninemia. ( 29576183 )
2018
8
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. ( 30139987 )
2018
9
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age. ( 30268140 )
2018
10
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. ( 28794131 )
2017
11
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. ( 28132689 )
2017
12
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. ( 28293905 )
2017
13
DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia. ( 28389235 )
2017
14
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. ( 28504493 )
2017
15
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria. ( 28850634 )
2017
16
Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia. ( 29032371 )
2017
17
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. ( 29102225 )
2017
18
Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015). ( 29184644 )
2017
19
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. ( 26822703 )
2016
20
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. ( 26910740 )
2016
21
Genetic background of hyperphenylalaninemia in Nagasaki, Japan. ( 27173423 )
2016
22
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia. ( 27612877 )
2016
23
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia. ( 25261586 )
2015
24
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
25
Hyperphenylalaninemia and the genomic revolution. ( 25549965 )
2015
26
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling. ( 25726095 )
2015
27
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. ( 25825540 )
2015
28
Prevalence of neonatal hyperphenylalaninemia in yazd province, iran. ( 25999633 )
2015
29
Vitamin and mineral status in patients with hyperphenylalaninemia. ( 26123187 )
2015
30
Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? ( 26226119 )
2015
31
Micronutrient in hyperphenylalaninemia. ( 26322328 )
2015
32
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program. ( 26635939 )
2015
33
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. ( 28649530 )
2015
34
Cognitive functioning in mild hyperphenylalaninemia. ( 28649547 )
2015
35
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen? ( 24246852 )
2014
36
Cost-benefit analysis of hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency: for consideration of expanded newborn screening in Hong Kong. ( 24803483 )
2014
37
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. ( 25237320 )
2014
38
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing. ( 25456745 )
2014
39
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. ( 23357515 )
2013
40
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. ( 23436109 )
2013
41
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. ( 23537842 )
2013
42
Antioxidant treatment strategies for hyperphenylalaninemia. ( 23657560 )
2013
43
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. ( 23771645 )
2013
44
Mutation analysis in hyperphenylalaninemia patients from South Italy. ( 23792259 )
2013
45
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia. ( 24032682 )
2013
46
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. ( 24133926 )
2013
47
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. ( 24376837 )
2013
48
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. ( 24078561 )
2013
49
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. ( 22205310 )
2012
50
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. ( 22644647 )
2012

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 CACNA1C CAT G6PD GCH1 NOS1 PAH
2 12.03 CNP MBP NEFH NOS1 SOD1 TH
3
Show member pathways
11.77 PAH PCBD1 QDPR
4
Show member pathways
11.68 CAT NEFH NOS1 SOD1
5 11.44 NEFH NOS1 SOD1
6
Show member pathways
11.15 CAT NOS1 SOD1
7
Show member pathways
10.69 GCH1 PAH PCBD1 PTS QDPR SPR
8
Show member pathways
10.67 PAH TH TPH1
9 10.64 SOD1 TH
10 10.59 NOS1 PRKG2
11 10.54 CACNA1C TH
12 10.31 CNP MBP

GO Terms for Hyperphenylalaninemia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 BGLAP CACNA1C CNP DNAJC12 G6PD GCH1
2 cytosol GO:0005829 9.47 CAT CNP G6PD GCH1 NOS1 PAH
3 perikaryon GO:0043204 9.43 BGLAP CACNA1C TH
4 myelin sheath GO:0043209 9.16 CNP MBP

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

(show all 27)
# 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 lipopolysaccharide GO:0032496 9.83 CNP GCH1 NOS1 TH
4 sensory perception of sound GO:0007605 9.8 MBP SOD1 TH
5 response to organic cyclic compound GO:0014070 9.8 BGLAP G6PD TH
6 response to toxic substance GO:0009636 9.77 CAT CNP MBP
7 cellular response to oxidative stress GO:0034599 9.76 CAT G6PD SOD1
8 response to nutrient levels GO:0031667 9.73 BGLAP SOD1 TH
9 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP CAT NOS1 TH
10 response to activity GO:0014823 9.69 BGLAP CAT TH
11 substantia nigra development GO:0021762 9.67 CNP G6PD MBP
12 response to ethanol GO:0045471 9.65 BGLAP CAT G6PD SOD1 TH
13 oxidation-reduction process GO:0055114 9.65 CAT G6PD NOS1 PAH PCBD1 QDPR
14 response to immobilization stress GO:0035902 9.63 TH TPH1
15 neurotransmitter biosynthetic process GO:0042136 9.63 NOS1 PAH TH
16 response to lead ion GO:0010288 9.62 CAT QDPR
17 vasodilation GO:0042311 9.61 GCH1 NOS1
18 nitric oxide biosynthetic process GO:0006809 9.61 GCH1 NOS1 SPR
19 response to reactive oxygen species GO:0000302 9.59 CAT SOD1
20 dopamine biosynthetic process GO:0042416 9.58 GCH1 TH
21 neurofilament cytoskeleton organization GO:0060052 9.57 NEFH SOD1
22 catecholamine biosynthetic process GO:0042423 9.55 PAH TH
23 L-phenylalanine catabolic process GO:0006559 9.54 PAH PCBD1 QDPR
24 aromatic amino acid family metabolic process GO:0009072 9.5 PAH TH TPH1
25 dihydrobiopterin metabolic process GO:0051066 9.48 GCH1 QDPR
26 cofactor metabolic process GO:0051186 9.46 GCH1 PRKG2 PTS SPR
27 tetrahydrobiopterin biosynthetic process GO:0006729 9.02 GCH1 PCBD1 PTS QDPR SPR

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 CAT G6PD GCH1 PRKG2 PTS QDPR
2 iron ion binding GO:0005506 9.61 PAH TH TPH1
3 NADP binding GO:0050661 9.46 CAT G6PD NOS1 SPR
4 tetrahydrobiopterin binding GO:0034617 9.37 NOS1 TH
5 phenylalanine 4-monooxygenase activity GO:0004505 9.32 PAH PCBD1
6 oxidoreductase activity GO:0016491 9.28 CAT G6PD NOS1 PAH QDPR SOD1
7 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
8 metal ion binding GO:0046872 10.1 BGLAP CACNA1C CAT GCH1 NOS1 PAH

Sources for Hyperphenylalaninemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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