Aliases & Classifications for Hyperphenylalaninemia

MalaCards integrated aliases for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 76 55
Hyperphenylalaninaemia 73

External Ids:

UMLS 73 C0751435

Summaries for Hyperphenylalaninemia

MalaCards based summary : Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to hyperphenylalaninemia, bh4-deficient, b and mild hyperphenylalaninemia. 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 bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 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 63)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 33.6 GCH1 PTS QDPR TH
2 mild hyperphenylalaninemia 33.6 PAH PCBD1 PTS QDPR
3 segawa syndrome, autosomal recessive 31.7 GCH1 TH
4 dystonia, dopa-responsive 31.7 GCH1 SPR TH
5 phenylketonuria 30.5 BGLAP G6PD GCH1 PAH PTS QDPR
6 tetrahydrobiopterin deficiency 30.1 GCH1 NOS1 PAH PCBD1 PTS QDPR
7 maple syrup urine disease 29.8 CAT QDPR SOD1
8 hyperphenylalaninemia, bh4-deficient, a 12.5
9 hyperphenylalaninemia, bh4-deficient, c 12.4
10 hyperphenylalaninemia, bh4-deficient, d 12.4
11 maternal hyperphenylalaninemia 12.2
12 hyperphenylalaninemia due to dehydratase deficiency 12.2
13 hyperphenylalaninemia, mild, non-bh4-deficient 12.2
14 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 12.1
15 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 11.9
16 hyperphenylalaninemia due to dnajc12 deficiency 11.9
17 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 11.3
18 tyrosine-oxidase temporary deficiency 10.9
19 classic phenylketonuria 10.6 PAH PTS QDPR
20 congenital methemoglobinemia 10.5 G6PD SOD1
21 intestinal perforation 10.5 NOS1 PTS
22 meningitis and encephalitis 10.4 CAT SOD1
23 hereditary dystonia 10.3 GCH1 TH
24 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3 CAT GCH1 PCBD1
25 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.2 MBP TH
26 cerebritis 10.2
27 neonatal hypoxic and ischemic brain injury 10.2 MBP TH
28 erysipelas 10.1 CAT SOD1
29 dystonia 10.1
30 isolated optic neuritis 9.9 CNP MBP
31 alacrima, achalasia, and mental retardation syndrome 9.9
32 hypothyroidism 9.9
33 tyrosinemia 9.9
34 meningococcal infection 9.8 G6PD SOD1
35 galactosemia 9.7
36 aging 9.7
37 leukemia, acute lymphoblastic 9.7
38 burns 9.7
39 leukemia 9.7
40 congenital hypothyroidism 9.7
41 vitamin b12 deficiency 9.7
42 lymphoblastic leukemia 9.7
43 microcephaly 9.7
44 histiocytosis 9.7
45 mitochondrial metabolism disease 9.7
46 thyroiditis 9.7
47 placenta disease 9.7
48 neuronitis 9.7
49 malignant histiocytosis 9.7
50 homocystinuria 9.7

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 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.58 SPR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 DNAJC12
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.58 DNAJC12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.58 DNAJC12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.58 DNAJC12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.58 DNAJC12
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.58 DNAJC12
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.58 DNAJC12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.58 DNAJC12
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.58 GCH1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.58 DNAJC12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.58 SPR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.58 PRKG2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.58 GCH1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.58 DNAJC12 GCH1 PRKG2 SPR

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 PCBD1 PRKG2 PTS QDPR SOD1 SPR
2 behavior/neurological MP:0005386 10.14 TH TPH1 CACNA1C CNP MBP NEFH
3 cellular MP:0005384 10.11 CACNA1C CAT CNP G6PD MBP NEFH
4 growth/size/body region MP:0005378 10.06 SPR TH TPH1 CNP G6PD MBP
5 mortality/aging MP:0010768 9.93 NOS1 PTS QDPR SOD1 SPR TH
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 28)
# 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 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
4 Vasodilator Agents Phase 4,Phase 2,Phase 1
5 Calcium, Dietary Phase 4,Phase 2,Phase 1
6 Pharmaceutical Solutions Phase 4
7 phenylalanine Nutraceutical Phase 3,Phase 2,Not Applicable
8
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
9 Estradiol valerate Approved, Investigational, Vet_approved Phase 1 979-32-8
10
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
11
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
12
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
13
Polyestradiol phosphate Approved Phase 1 28014-46-2
14 Fluoroquinolones Phase 1
15 Contraceptive Agents Phase 1
16 Contraceptives, Oral Phase 1
17 Contraceptives, Oral, Combined Phase 1
18 Topoisomerase Inhibitors Phase 1
19 Norgestimate, ethinyl estradiol drug combination Phase 1
20 Nucleic Acid Synthesis Inhibitors Phase 1
21 Anti-Bacterial Agents Phase 1
22 Estradiol 17 beta-cypionate Phase 1
23 Estradiol 3-benzoate Phase 1
24 Anti-Infective Agents Phase 1
25 Antioxidants
26 Protective Agents
27 Vitamins Not Applicable
28 tyrosine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 20)
# 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 Not yet recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
6 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
7 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
8 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
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 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288
15 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299 Not Applicable
16 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Recruiting NCT00778206 Kuvan
17 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
18 Study of a National Cohort of Adult Patients With Phenylketonuria Active, not recruiting NCT01619722
19 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Enrolling by invitation NCT03167697 Not Applicable
20 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:

41
Brain, Testes, Bone, Liver, Cortex, Fetal Brain, Cerebellum

Publications for Hyperphenylalaninemia

Articles related to Hyperphenylalaninemia:

(show top 50) (show all 321)
# Title Authors Year
1
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. ( 29499199 )
2018
2
50 Years Ago in The Journal of Pediatrics: Variability in the Manifestations of Phenylketonuria/Transient Hyperphenylalaninemia. ( 29576183 )
2018
3
Brain bioenergetics in rats with acute hyperphenylalaninemia. ( 29454001 )
2018
4
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma. ( 29317692 )
2018
5
Reassessing the significance of the PAH c.158G&amp;gt;A (p.Arg53His) variant in patients with hyperphenylalaninemia. ( 29032371 )
2017
6
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. ( 28801146 )
2017
7
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. ( 28504493 )
2017
8
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. ( 28293905 )
2017
9
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria. ( 28850634 )
2017
10
&amp;quot;Mild&amp;quot; hyperphenylalaninemia? A case series of seven treated patients following newborn screening. ( 29102225 )
2017
11
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. ( 28132689 )
2017
12
DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia. ( 28389235 )
2017
13
Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015). ( 29184644 )
2017
14
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. ( 28794131 )
2017
15
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. ( 26910740 )
2016
16
Genetic background of hyperphenylalaninemia in Nagasaki, Japan. ( 27173423 )
2016
17
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. ( 26822703 )
2016
18
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. ( 25825540 )
2015
19
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
20
Micronutrient in hyperphenylalaninemia. ( 26322328 )
2015
21
Vitamin and mineral status in patients with hyperphenylalaninemia. ( 26123187 )
2015
22
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program. ( 26635939 )
2015
23
Cognitive functioning in mild hyperphenylalaninemia. ( 28649547 )
2015
24
Hyperphenylalaninemia and the genomic revolution. ( 25549965 )
2015
25
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. ( 28649530 )
2015
26
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. ( 25726095 )
2015
27
Prevalence of neonatal hyperphenylalaninemia in yazd province, iran. ( 25999633 )
2015
28
Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? ( 26226119 )
2015
29
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong. ( 24803483 )
2014
30
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring-Implications for clinical management of patients with hyperphenylalaninemia. ( 25261586 )
2014
31
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. ( 25237320 )
2014
32
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeqa8c panel and Ion Torrent PGM sequencing. ( 25456745 )
2014
33
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. ( 24078561 )
2013
34
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. ( 23357515 )
2013
35
Antioxidant treatment strategies for hyperphenylalaninemia. ( 23657560 )
2013
36
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia. ( 24032682 )
2013
37
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. ( 23942198 )
2013
38
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. ( 24376837 )
2013
39
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - Whom and what to screen? ( 24246852 )
2013
40
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. ( 23537842 )
2013
41
Mutation analysis in hyperphenylalaninemia patients from South Italy. ( 23792259 )
2013
42
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. ( 23771645 )
2013
43
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. ( 23436109 )
2013
44
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. ( 24133926 )
2013
45
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. ( 22205310 )
2012
46
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. ( 22644647 )
2012
47
Neurocognitive function in mild hyperphenylalaninemia. ( 21418193 )
2011
48
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. ( 20818608 )
2011
49
Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''. ( 21285043 )
2011
50
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. ( 20823030 )
2011

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
13.77 CACNA1C CAT G6PD GCH1 NOS1 PAH
2 12.03 CNP MBP NEFH NOS1 SOD1 TH
3
Show member pathways
11.79 PAH PCBD1 QDPR
4
Show member pathways
11.73 CAT NEFH NOS1 SOD1
5 11.47 NEFH NOS1 SOD1
6
Show member pathways
11.35 GCH1 PRKG2 PTS SPR
7
Show member pathways
11.18 CAT NOS1 SOD1
8
Show member pathways
10.78 PAH TH TPH1
9
Show member pathways
10.69 GCH1 PAH PCBD1 PTS QDPR SPR
10 10.66 SOD1 TH
11 10.61 NOS1 PRKG2
12 10.56 CACNA1C TH
13 10.34 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 mitochondrion GO:0005739 9.8 CAT NEFH NOS1 PTS QDPR SOD1
2 cytosol GO:0005829 9.8 CAT CNP G6PD GCH1 NOS1 PAH
3 cytoplasm GO:0005737 9.53 BGLAP CACNA1C CAT CNP DNAJC12 G6PD
4 myelin sheath GO:0043209 9.46 CNP MBP NEFH SOD1

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 response to lipopolysaccharide GO:0032496 9.85 CNP GCH1 NOS1 TH
3 aging GO:0007568 9.83 BGLAP CAT CNP SOD1
4 sensory perception of sound GO:0007605 9.81 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 9.77 CAT G6PD SOD1
8 response to nutrient levels GO:0031667 9.74 BGLAP SOD1 TH
9 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP CAT NOS1 TH
10 substantia nigra development GO:0021762 9.69 CNP G6PD MBP
11 response to activity GO:0014823 9.67 BGLAP CAT TH
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 9.58 CAT SOD1
20 dopamine biosynthetic process GO:0042416 9.58 GCH1 TH
21 neurofilament cytoskeleton organization GO:0060052 9.56 NEFH SOD1
22 catecholamine biosynthetic process GO:0042423 9.54 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 9.71 NOS1 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 10.13 BGLAP CACNA1C CAT GCH1 NOS1 PAH

Sources for Hyperphenylalaninemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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