Aliases & Classifications for Hyperphenylalaninemia

MalaCards integrated aliases for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 74 54 39
Hyperphenylalaninaemia 71

External Ids:

UMLS 71 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 110)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 34.1 SPR QDPR PTS PCBD1 PAH GCH1
2 hyperphenylalaninemia, bh4-deficient, b 34.1 TH QDPR PTS GCH1
3 mild hyperphenylalaninemia 33.6 QDPR PTS PCBD1 PAH DNAJC12
4 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 32.7 SPR QDPR PCBD1 GCH1
5 segawa syndrome, autosomal recessive 32.4 TH GCH1
6 dystonia, dopa-responsive 32.0 TH SPR GCH1
7 phenylketonuria 31.6 TPH1 TH QDPR PTS PCBD1 PAH
8 classic phenylketonuria 31.2 QDPR PTS PAH
9 tetrahydrobiopterin deficiency 31.1 TH SPR SOD1 QDPR PTS PCBD1
10 tyrosinemia 31.0 QDPR PTS PAH
11 early-onset parkinson's disease 29.8 TH GCH1 CAT
12 maple syrup urine disease 29.6 SOD1 QDPR PAH CAT
13 dystonia 29.1 TPH1 TH SPR QDPR PTS PCBD1
14 cerebral palsy 28.8 SOD1 NOS1 CNP CAT BGLAP
15 hyperphenylalaninemia, bh4-deficient, d 12.8
16 hyperphenylalaninemia, bh4-deficient, c 12.7
17 hyperphenylalaninemia, mild, non-bh4-deficient 12.7
18 maternal hyperphenylalaninemia 12.6
19 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 12.2
20 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.0
21 tyrosine-oxidase temporary deficiency 11.2
22 inherited metabolic disorder 10.5
23 microcephaly 10.4
24 alacrima, achalasia, and mental retardation syndrome 10.4
25 autosomal recessive disease 10.4
26 hypotonia 10.3
27 oculogyric crisis 10.3 SPR GCH1
28 hemidystonia 10.3 SPR GCH1
29 multifocal dystonia 10.3 SPR GCH1
30 polycystic bone disease 10.2
31 homocystinuria 10.2
32 isolated optic neuritis 10.2 MBP CNP
33 galactosemia i 10.1
34 hypothyroidism 10.1
35 aminoacidopathies 10.1
36 encephalopathy 10.1
37 hypertonia 10.1
38 hereditary dystonia 10.1 TH GCH1
39 pyridoxamine 5-prime-phosphate oxidase deficiency 10.1 SPR QDPR
40 intestinal disaccharidase deficiency 10.1 PTS CAT
41 cervical dystonia 10.0 TH SPR GCH1
42 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0 TH MBP
43 neonatal hypoxic and ischemic brain injury 10.0 TH MBP
44 hair whorl 10.0
45 triiodothyronine receptor auxiliary protein 10.0
46 hemochromatosis, type 1 10.0
47 histidinemia 10.0
48 methylmalonyl-coa epimerase deficiency 10.0
49 tyrosinemia, type i 10.0
50 maturity-onset diabetes of the young, type 3 10.0

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 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.98 PRKG2
2 Decreased viability GR00221-A-2 9.98 SOD1
3 Decreased viability GR00221-A-3 9.98 PRKG2 SOD1
4 Decreased viability GR00221-A-4 9.98 PRKG2 SOD1
5 Decreased viability GR00249-S 9.98 CACNA1C CNP G6PD NOS1 PCBD1 SOD1
6 Decreased viability GR00301-A 9.98 CNP
7 Decreased viability GR00381-A-1 9.98 GCH1 SPR
8 Decreased viability GR00386-A-1 9.98 CNP G6PD
9 Decreased viability GR00402-S-2 9.98 G6PD MBP NEFH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 DNAJC12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 DNAJC12
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.6 SPR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.6 SPR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 DNAJC12
15 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.6 DNAJC12
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 SPR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.6 DNAJC12
18 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.6 PRKG2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.6 DNAJC12
20 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.6 DNAJC12
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 SPR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.6 PRKG2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.6 DNAJC12
24 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.6 SPR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.6 PRKG2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.6 DNAJC12
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 PRKG2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.6 GCH1

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CACNA1C CNP MBP NEFH NOS1 PAH
2 cellular MP:0005384 10.1 BGLAP CACNA1C CAT CNP G6PD MBP
3 homeostasis/metabolism MP:0005376 10.09 BGLAP CACNA1C CAT CNP G6PD GCH1
4 endocrine/exocrine gland MP:0005379 9.91 BGLAP CACNA1C CNP NOS1 PTS SOD1
5 nervous system MP:0003631 9.73 CACNA1C CNP G6PD GCH1 MBP NEFH
6 reproductive system MP:0005389 9.28 BGLAP CACNA1C CNP MBP NOS1 PAH

Drugs & Therapeutics for Hyperphenylalaninemia

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
4 Pharmaceutical Solutions Phase 4
5
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
6 Anti-Infective Agents Phase 1
7 Anti-Bacterial Agents Phase 1
8 Norgestimate, ethinyl estradiol drug combination Phase 1
9
Verapamil Approved 52-53-9 2520
10
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
11 Hormones
12 Anti-Arrhythmia Agents
13 Vasodilator Agents
14 Calcium, Dietary
15 calcium channel blockers
16 Fluorodeoxyglucose F18
17 Antioxidants
18 Vitamins
19 Trace Elements
20 Nutrients
21 Micronutrients
22
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 ENDURE: A Phase IV, Prospective, Open-label, Uncontrolled, Multi-centre Cohort Trial to Assess the Responsiveness of Subjects With Phenylketonuria (PKU) to Treatment With Kuvan® 20 mg/kg/Day for 28 Days Completed NCT01082328 Phase 4 Kuvan®
2 The Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or "Kuvan") in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
3 A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety & Tolerability of an Induction, Titration, and Maintenance Dose Regimen of BMN 165 Self Administered by Adults With PKU Not Previously Treated With BMN 165 Completed NCT01819727 Phase 3 BMN 165
4 Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
5 Phase 2, Multicenter, Open Label Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to Primary BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
6 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
7 A Phase 1/2 Open-Label, Randomized, Concurrently-Controlled, Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects With PAH Deficiency Recruiting NCT03952156 Phase 1, Phase 2
8 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
9 A Phase 1, Randomized, Placebo- and Active-controlled Crossover Study to Evaluate the Effects of Sapropterin Dihydrochloride Oral Administration on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
10 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
11 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Completed NCT03167697
12 Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia Completed NCT01879995
13 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
14 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
15 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
16 Neuropsychological and Quality of Life Outcomes in Untreated Adults With Mild Hyperphenylalaninemia (MHP)/Phenylketonuria (PKU) With Phenylalanine Levels Between 360 and 600 µmol/L Caused by Phenylalanine Hydroxylase (PAH) Deficiency. Completed NCT01924026
17 Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome Completed NCT00065299
18 A Pilot Study of FDG PET Findings in Patients With Phenylketonuria Before and After BH4 Supplementation Completed NCT00986973 Sapropterin
19 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
20 Antioxidant Signature in Adult Patients With Phenylketonuria (PKU) and Healthy Volunteers : Relationship With Metabolic Disturbances Completed NCT02212288
21 An Open-label, Explorative, Post Launch, Multicenter, Multi-country Intervention Study of PKU Synergy (an Amino-acid Mixture) to Evaluate Change in Nutrient Intake in PKU Subjects With an Increased Phe-tolerance/Intake Recruiting NCT03777826
22 An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy Recruiting NCT04224142
23 Kuvan® Adult Maternal Pediatric European Registry Active, not recruiting NCT01016392
24 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Active, not recruiting NCT00778206 Kuvan
25 Study of a National Cohort of Adult Patients With Phenylketonuria Active, not recruiting NCT01619722
26 Evaluating the Compliance, Acceptability, Safety and Tolerance of a Lower Calorie Protein Substitute for the Dietary Management of Phenylketonuria in Children and Adults - a Pilot Study Not yet recruiting NCT04272736
27 Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development. Not yet recruiting NCT04302194
28 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397 Sapropterin

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

Anatomical Context for Hyperphenylalaninemia

MalaCards organs/tissues related to Hyperphenylalaninemia:

40
Brain, Testes, Bone, Liver, Cortex, Heart, Cerebellum

Publications for Hyperphenylalaninemia

Articles related to Hyperphenylalaninemia:

(show top 50) (show all 1210)
# Title Authors PMID Year
1
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics. 54 61
19946181 2010
2
Sapropterin: a new therapeutic agent for phenylketonuria. 54 61
19654333 2009
3
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. 54 61
19292873 2009
4
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. 54 61
19534905 2009
5
[Biopterin and child neurologic disease]. 54 61
19172809 2009
6
Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years. 54 61
19904458 2008
7
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations. 61 54
19062537 2008
8
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. 61 54
18321666 2008
9
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. 54 61
18346471 2008
10
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. 61 54
18276179 2008
11
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]. 54 61
19099731 2008
12
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. 54 61
18505119 2008
13
Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein. 54 61
18241680 2008
14
Phenylketonuria: an inborn error of phenylalanine metabolism. 61 54
18566668 2008
15
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias. 54 61
18210214 2008
16
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 54 61
17935162 2008
17
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels. 61 54
17590551 2008
18
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 61 54
18299955 2008
19
Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. 54 61
17968763 2007
20
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. 54 61
17680344 2007
21
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. 54 61
17517248 2007
22
[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients]. 54 61
17557244 2007
23
[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. 54 61
17407085 2007
24
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. 61 54
17096675 2007
25
[Dopa-responsive dystonia]. 61 54
17432176 2006
26
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 61 54
16917893 2006
27
6-pyruvoyltetrahydropterin synthase deficiency two-case report. 61 54
16850690 2006
28
[Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?]. 54 61
16527067 2006
29
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. 54 61
16364672 2006
30
[Dopa-responsive dystonia: clinical, genetic, and biochemical studies]. 54 61
16541791 2006
31
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. 54 61
16198137 2005
32
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. 54 61
16275037 2005
33
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. 54 61
16242984 2005
34
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. 54 61
15984017 2005
35
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. 61 54
15556637 2004
36
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 54 61
15464430 2004
37
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. 54 61
14681498 2004
38
Dihydropteridine reductase deficiency in man: from biology to treatment. 61 54
14705166 2004
39
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. 61 54
14722928 2004
40
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation. 54 61
15159646 2004
41
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. 54 61
14728991 2004
42
The molecular basis of phenylketonuria in Koreans. 54 61
15503242 2004
43
Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. 61 54
15346830 2004
44
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. 61 54
14654665 2003
45
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. 54 61
14601136 2003
46
Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members. 61 54
12893295 2003
47
Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. 61 54
12734191 2003
48
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. 61 54
12655545 2003
49
Hyperphenylalaninemia reduces creatine kinase activity in the cerebral cortex of rats. 54 61
12615087 2003
50
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. 54 61
12640344 2003

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 TPH1 TH SPR QDPR PTS PRKG2
2 12.03 TPH1 TH SOD1 NOS1 NEFH MBP
3
Show member pathways
11.79 QDPR PCBD1 PAH
4 11.6 SOD1 NOS1 NEFH CAT
5 11.47 SOD1 NOS1 NEFH
6
Show member pathways
11.35 SPR PTS PRKG2 GCH1
7
Show member pathways
11.18 SOD1 NOS1 CAT
8
Show member pathways
10.78 TPH1 TH PAH
9
Show member pathways
10.69 TPH1 TH SPR QDPR PTS PCBD1
10 10.66 TH SOD1
11 10.61 PRKG2 NOS1
12 10.56 TH CACNA1C
13 10.34 MBP CNP

GO Terms for Hyperphenylalaninemia

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 TPH1 TH SPR SOD1 QDPR PTS
2 cytoplasm GO:0005737 9.53 TPH1 TH SPR SOD1 QDPR PTS

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.91 TH SOD1 CAT BGLAP
2 aging GO:0007568 9.85 SOD1 CNP CAT BGLAP
3 response to lipopolysaccharide GO:0032496 9.83 TH NOS1 GCH1 CNP
4 response to organic cyclic compound GO:0014070 9.79 TH G6PD BGLAP
5 response to toxic substance GO:0009636 9.77 MBP CNP CAT
6 cellular response to oxidative stress GO:0034599 9.76 SOD1 G6PD CAT
7 cellular response to growth factor stimulus GO:0071363 9.76 TH NOS1 CAT BGLAP
8 response to nutrient levels GO:0031667 9.74 TH SOD1 BGLAP
9 response to activity GO:0014823 9.69 TH CAT BGLAP
10 substantia nigra development GO:0021762 9.67 MBP G6PD CNP
11 response to ethanol GO:0045471 9.65 TH SOD1 G6PD CAT BGLAP
12 oxidation-reduction process GO:0055114 9.65 TPH1 TH SPR SOD1 QDPR PCBD1
13 vasodilation GO:0042311 9.62 NOS1 GCH1
14 response to lead ion GO:0010288 9.62 QDPR CAT
15 neurotransmitter biosynthetic process GO:0042136 9.61 TH PAH NOS1
16 response to reactive oxygen species GO:0000302 9.6 SOD1 CAT
17 dopamine biosynthetic process GO:0042416 9.58 TH GCH1
18 nitric oxide biosynthetic process GO:0006809 9.58 SPR NOS1 GCH1
19 neurofilament cytoskeleton organization GO:0060052 9.56 SOD1 NEFH
20 catecholamine biosynthetic process GO:0042423 9.54 TH PAH
21 L-phenylalanine catabolic process GO:0006559 9.54 QDPR PCBD1 PAH
22 aromatic amino acid family metabolic process GO:0009072 9.5 TPH1 TH PAH
23 dihydrobiopterin metabolic process GO:0051066 9.48 QDPR GCH1
24 cofactor metabolic process GO:0051186 9.46 SPR PTS PRKG2 GCH1
25 tetrahydrobiopterin biosynthetic process GO:0006729 9.02 SPR QDPR PTS PCBD1 GCH1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.92 SOD1 QDPR PTS PRKG2 PCBD1 GCH1
2 monooxygenase activity GO:0004497 9.58 TPH1 TH PAH
3 NADP binding GO:0050661 9.46 SPR NOS1 G6PD CAT
4 tetrahydrobiopterin binding GO:0034617 9.37 TH NOS1
5 oxidoreductase activity GO:0016491 9.28 TPH1 TH SPR SOD1 QDPR PAH
6 phenylalanine 4-monooxygenase activity GO:0004505 9.26 PCBD1 PAH
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 TPH1 TH PAH

Sources for Hyperphenylalaninemia

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