MCID: HYP141
MIFTS: 51

Hyperphenylalaninemia malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Hyperphenylalaninemia

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Sources:
63Wikipedia, 20GeneTests, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hyperphenylalaninemia, Aliases & Descriptions:

Name: Hyperphenylalaninemia 63 20 43 47
Hyperphenylalaninaemia 63 60
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 47
Hyperphenylalaninemia Due to Bh4 Deficiency 47
 
Hyperphenylalaninemia, Non-Phenylketonuric 60
Non-Phenylketonuric Hyperphenylalaninemia 47
Hpa 63


Classifications:



Characteristics (Orphanet epidemiological data):

47
hyperphenylalaninemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 238583
ICD10 via Orphanet26 E70.1
UMLS via Orphanet61 C0751436

Summaries for Hyperphenylalaninemia

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Wikipedia:63 Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated levels of the... more...

MalaCards based summary: Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to phenylketonuria and gtp cyclohydrolase i deficiency. An important gene associated with Hyperphenylalaninemia is PCBD1 (pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha), and among its related pathways are phenylalanine degradation I and Tyrosine metabolism p.1 dopamine . The compounds 7-biopterin and tetrahydropterin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver, and related mouse phenotypes are integument and muscle.

Related Diseases for Hyperphenylalaninemia

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Diseases in the Hyperphenylalaninemia family:

Benign Hyperphenylalaninemia

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

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.8PTS, QDPR, PAH
2gtp cyclohydrolase i deficiency31.0PTS, QDPR, TH, GCH1
3mood disorder30.9TPH1, NOS1, TH
4bipolar disorder30.7TH, NOS1
5segawa syndrome, recessive30.7TH
6tyrosinemia30.4PAH, FAH, TAT, PTS
7mental retardation30.4QDPR, TAT, PAH, TPH1, PTS, TH
8homocystinuria30.2G6PD, PTS
9galactosemia29.9BGLAP, TAT, G6PD, FAH
10melanoma29.6PTS, TPH1, CAT, MBP, NOS1
11schizophrenia29.3MBP, NOS1, CNP, PAH, TPH1, TH
12mild hyperphenylalaninemia10.7
13maternal hyperphenylalaninemia10.7
14tetrahydrobiopterin deficiency10.6
15hyperphenylalaninemia, bh4-deficient, a10.5
16hyperphenylalaninemia, bh4-deficient, d10.5
17hyperphenylalaninemia due to dehydratase deficiency10.5
18hyperphenylalaninemia, bh4-deficient, c10.4
19neuroblastoma10.4TH
20favism10.4G6PD
21cerebritis10.4
22movement disease10.4GCH1, TH
23benign hyperphenylalaninemia10.4
24parkinson disease, late-onset10.4GCH1, TH
25autoimmune polyendocrine syndrome type 110.4TPH1, TH
26methemoglobinemia10.4G6PD
27tyrosinemia, type ii10.3FAH, TAT
28neurotic disorder10.3TH, TPH1, NOS1
29hyperphenylalaninemia, bh4-deficient, b10.3
30dystonia, dopa-responsive, with or without hyperphenylalaninemia10.3
31psychotic disorder10.3NOS1, TPH1, TH
32neonatal hypoxic and ischemic brain injury10.3MBP, TH
33tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.3
34progressive multifocal leukoencephalopathy10.2TAT, MBP
35hypermethioninemia10.2SOD1
36rickets10.2PAH, FAH, BGLAP
37diabetic cataract10.2G6PD, CAT
38dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.2
39dystonia10.2
40prosopagnosia10.2
41hypokalemic periodic paralysis, type 110.2CACNA1C, QDPR
42aids dementia complex10.2TAT, MBP
43toxic encephalopathy10.2CAT, TH, NEFH
44dementia10.1TH, TAT, NOS1
45brain disease10.1MBP, TAT, TH
46hypothyroidism10.1
47alcohol dependence10.1
48thrombocytopenia10.1
49alexithymia10.1
50irritable bowel syndrome10.1

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Symptoms for Hyperphenylalaninemia

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Drugs & Therapeutics for Hyperphenylalaninemia

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Drug clinical trials:

Search ClinicalTrials for Hyperphenylalaninemia

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

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Genetic tests related to Hyperphenylalaninemia:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia20

Anatomical Context for Hyperphenylalaninemia

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MalaCards organs/tissues related to Hyperphenylalaninemia:

31
Brain, Testes, Liver, Cortex, Bone, Fetal brain, Bone marrow, Cerebellum, Thyroid

Animal Models for Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperphenylalaninemia:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9CACNA1C, PCBD1, PAH, TPH1, PTS, TH
2MP:00053697.9PTS, TPH1, SOD1, CNP, CACNA1C, NOS1
3MP:00053857.9TH, PTS, TPH1, SOD1, G6PD, CACNA1C
4MP:00053917.8TH, SOD1, PAH, CNP, PCBD1, NOS1
5MP:00053907.7TPH1, SOD1, PRKG2, CNP, NOS1, QDPR
6MP:00053797.6TH, PTS, SOD1, FAH, CNP, CACNA1C
7MP:00053897.4PTS, SOD1, PAH, CNP, CACNA1C, NOS1
8MP:00053787.4TPH1, PTS, TH, SPR, G6PD, PAH
9MP:00053847.4TH, SOD1, G6PD, NEFH, FAH, CAT
10MP:00053866.6SPR, TH, PTS, TPH1, SOD1, PAH
11MP:00036316.4SOD1, PTS, TH, SPR, G6PD, PAH
12MP:00107686.1SOD1, PTS, TH, SPR, G6PD, FAH
13MP:00053765.2MBP, SPR, TH, PTS, TPH1, SOD1

Publications for Hyperphenylalaninemia

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Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 294)
idTitleAuthorsYear
1
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
2
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
3
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. (18276179)
2008
4
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. (18346471)
2008
5
Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. (17708870)
2007
6
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? (16182582)
2005
7
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. (14681498)
2004
8
Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. (11997085)
2002
9
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
2002
10
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
11
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. (11438997)
2001
12
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. (10767173)
2000
13
Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia. (10790306)
2000
14
Neuropsychological function in mild hyperphenylalaninemia. (10755172)
2000
15
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. (10404727)
1999
16
Mutations causing hereditary hyperphenylalaninemia]. (10910639)
1999
17
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (9521426)
1998
18
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non- phenylketonuria hyperphenylalaninemia. (9852673)
1998
19
Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia. (10089284)
1998
20
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. (8682503)
1996
21
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. (7749420)
1995
22
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. (7508163)
1993
23
Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. (8432076)
1993
24
Branched chain amino acids improve radial-arm maze acquisition and water maze forced-choice learning in rat offspring exposed in utero to hyperphenylalaninemia. (1593977)
1992
25
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. (1301942)
1992
26
On the mechanism of permanent brain dysfunction in hyperphenylalaninemia. (1793607)
1991
27
Cognitive profile of rats exposed to lactational hyperphenylalaninemia: correspondence with human mental retardation. (2379759)
1990
28
Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. (2740145)
1989
29
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. (2675577)
1989
30
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. (3382399)
1988
31
Hyperphenylalaninemia syndromes: current status of diagnosis and management. (3286956)
1988
32
Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain. (2997643)
1985
33
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
1984
34
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals. (7106768)
1982
35
Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats. (6257849)
1981
36
Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis. (7262099)
1981
37
Effect of hyperphenylalaninemia on Na+ + K+-ATPase in rat brain. (6118285)
1981
38
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
1980
39
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. (978323)
1976
40
Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. (944951)
1976
41
The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates. (991440)
1976
42
Tolerance of protein and lipid synthesis to mild hyperphenylalaninemia in developing rat brain. (1174961)
1975
43
Lipid metabolism in liver and brain in acute hyperphenylalaninemia in rats of different ages. Correlation with tissue phenylalanine and tyrosine levels. (4844245)
1974
44
Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin. (4357501)
1973
45
Experimental maternal hyperphenylalaninemia: disaggregation of fetal brain ribosomes. (4269294)
1973
46
Persistent hyperphenylalaninemia. (5021455)
1972
47
Sex ratio in hyperphenylalaninemia. (5434124)
1970
48
Hyperphenylalaninemia: the effect of cerebral amino acid levels during development. (5404016)
1969
49
Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring. (6042624)
1967
50
Dietary induction of hyperphenylalaninemia in the rat. (6067644)
1967

Variations for Hyperphenylalaninemia

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Clinvar genetic disease variations for Hyperphenylalaninemia:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1PCBD1NM_000281.3(PCBD1): c.259G> T (p.Glu87Ter)single nucleotide variantPathogenicrs104894172GRCh37Chr 10, 72643763: 72643763
2PCBD1NM_000281.3(PCBD1): c.244T> C (p.Cys82Arg)single nucleotide variantPathogenicrs104894177GRCh37Chr 10, 72643778: 72643778
3PCBD1NM_000281.3(PCBD1): c.236C> T (p.Thr79Ile)single nucleotide variantPathogenicrs121913014GRCh37Chr 10, 72643786: 72643786
4PCBD1PCBD1, GLU86TERsingle nucleotide variantPathogenic
5PCBD1NM_000281.3(PCBD1): c.292C> T (p.Gln98Ter)single nucleotide variantPathogenicrs121913015GRCh37Chr 10, 72643730: 72643730
6PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)single nucleotide variantPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
7PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)single nucleotide variantPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
8PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)single nucleotide variantPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
9PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)single nucleotide variantPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
10PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928
11PTSPTS, 55-BP DEL, NT694deletionPathogenic
12PTSPTS, IVS1, -322A-Tsingle nucleotide variantPathogenic
13QDPRQDPR, 3-BP INS, 390ACTinsertionPathogenic
14QDPRNM_000320.2(QDPR): c.68G> A (p.Gly23Asp)single nucleotide variantPathogenicrs104893863GRCh37Chr 4, 17513610: 17513610
15QDPRNM_000320.2(QDPR): c.322T> G (p.Trp108Gly)single nucleotide variantPathogenicrs104893864GRCh37Chr 4, 17503456: 17503456
16QDPRNM_000320.2(QDPR): c.106T> C (p.Trp36Arg)single nucleotide variantPathogenicrs104893865GRCh37Chr 4, 17510986: 17510986
17QDPRQDPR, IVS3, A-G, 152-BP INSinsertionPathogenic
18QDPRNM_000320.2(QDPR): c.449A> G (p.Tyr150Cys)single nucleotide variantPathogenicrs104893866GRCh37Chr 4, 17493951: 17493951
19QDPRNM_000320.2(QDPR): c.270G> A (p.Trp90Ter)single nucleotide variantPathogenicrs104893867GRCh37Chr 4, 17506027: 17506027
20GCH1NM_000161.2(GCH1): c.633G> A (p.Met211Ile)single nucleotide variantPathogenicrs104894443GRCh37Chr 14, 55310855: 55310855
21GCH1NM_000161.2(GCH1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs104894445GRCh37Chr 14, 55312561: 55312561

Expression for genes affiliated with Hyperphenylalaninemia

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Search GEO for disease gene expression data for Hyperphenylalaninemia.

Pathways for genes affiliated with Hyperphenylalaninemia

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Pathways related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV36
tetrahydrobiopterin salvage36
10.0QDPR, PAH
210.0TH, PAH
39.9NOS1, PRKG2
4
Show member pathways
9.9NOS1, PRKG2
59.8PAH, TPH1, TH
6
Show member pathways
catecholamine biosynthesis36
9.8TH, PAH, TPH1
79.7CACNA1C, TH
89.6SPR, PTS, GCH1, QDPR
99.6SOD1, TH
10
Show member pathways
9.5SPR, PTS, PRKG2, GCH1
11
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.5TAT, PAH, G6PD
129.4CAT, SOD1
13
Show member pathways
phenylalanine utilization36
noradrenaline and adrenaline degradation36
phenylalanine degradation IV36
9.4TH, TAT, FAH, PAH
149.1CNP, MBP
15
Show member pathways
9.1SOD1, NOS1, CAT
16
Show member pathways
8.9PRKG2, CACNA1C, NOS1, TH, TPH1
17
Show member pathways
Amyotrophic lateral sclerosis (ALS)36
8.8NOS1, CAT, SOD1, NEFH
18
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.7TH, PAH, TPH1, QDPR, TAT, PCBD1
198.0NOS1, CNP, NEFH, SOD1, TPH1, TH
20
Show member pathways
6.1TH, PTS, TPH1, G6PD, PAH, FAH

Compounds for genes affiliated with Hyperphenylalaninemia

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Compounds related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 197)
idCompoundScoreTop Affiliating Genes
17-biopterin4310.2QDPR, PCBD1, PAH
2tetrahydropterin4310.1TH, TPH1, PAH
3dihydroneopterin triphosphate43 2411.1GCH1, PTS, SPR
45-hydroxytryptophan439.9PTS, TH, TPH1, QDPR
54a-hydroxytetrahydrobiopterin43 2410.8PAH, TPH1, TH, GCH1, PCBD1
6carbidopa43 2810.8TPH1, TH, PTS
7neopterin439.8PTS, GCH1, PAH, QDPR, TPH1
8Sapropterin249.7QDPR, PAH, TPH1, TH, SPR
9dihydrofolate439.7PAH, GCH1, QDPR, SPR
106-pyruvoyltetrahydropterin439.6GCH1, PCBD1, PTS, TH, QDPR, SPR
11pteridine439.6PTS, SPR, TH, QDPR, NOS1, GCH1
12catecholamine439.5PAH, GCH1, TPH1, PTS, TH, QDPR
13methamphetamine43 49 1211.5TPH1, TH, TAT, NOS1
14dihydropteridine43 2410.4PTS, SPR, TH, QDPR, GCH1, PCBD1
15diphenyliodonium439.4CAT, SOD1, NOS1
16ptio439.3SOD1, NOS1, CAT
17gtp43 2810.3QDPR, GCH1, PCBD1, PAH, PTS, TH
18nacn439.3NOS1, CAT, SOD1
19folate439.2GCH1, NOS1, QDPR, PAH, G6PD
20s-nitroso-n-acetylpenicillamine439.1TPH1, SOD1, CAT, NOS1
21pterin43 2410.1QDPR, NOS1, PCBD1, PAH, PTS, TPH1
22dihydrobiopterin43 2410.1SPR, TH, TPH1, QDPR, NOS1, GCH1
23apocynin43 5910.1NOS1, SOD1, CAT, TAT
24formate439.1SOD1, G6PD, CAT, GCH1
25corticosterone43 59 2411.0MBP, NOS1, TAT, BGLAP, TH
26NADP249.0SPR, G6PD, NOS1, QDPR, CAT
27sepiapterin43 249.9SPR, TH, QDPR, NOS1, GCH1, PCBD1
28phenylalanine438.9PTS, TPH1, PAH, FAH, GCH1, QDPR
29dopamine43 28 24 1211.7GCH1, TAT, QDPR, NOS1, TPH1, PTS
30thiobarbituric acid438.7G6PD, CAT, SOD1
31sodium nitroprusside438.6NOS1, CAT, TH, G6PD, SOD1, TPH1
32diphenyleneiodonium438.5G6PD, SOD1, TAT, CAT
33levodopa43 129.5QDPR, GCH1, PAH, SOD1, TPH1, PTS
34norepinephrine43 24 1210.4SPR, NOS1, TH, MBP, QDPR, TAT
35superoxide43 249.3NOS1, SOD1, G6PD, NEFH, TPH1, GCH1
36nadph43 249.3NOS1, CAT, GCH1, G6PD, QDPR, SOD1
37ascorbic acid43 249.1BGLAP, NOS1, GCH1, CAT, G6PD, SOD1
38nitric oxide43 24 1210.1PTS, SOD1, SPR, PAH, PRKG2, CAT
39estrogen438.0G6PD, NOS1, TPH1, GCH1, TAT, PCBD1
40aspartate438.0MBP, NOS1, TAT, FAH, PAH, G6PD
41Water247.9CAT, GCH1, NOS1, TPH1, TH, PCBD1
42arginine437.9TPH1, SOD1, PAH, TAT, BGLAP, GCH1
43tyrosine437.8FAH, MBP, TAT, QDPR, GCH1, SPR
44tetrahydrobiopterin43 24 129.8QDPR, NOS1, GCH1, CAT, PCBD1, PAH
45alanine437.7MBP, TAT, TH, BGLAP, SOD1, FAH
46serine437.7PTS, FAH, NEFH, PAH, G6PD, BGLAP
47oxygen43 248.7G6PD, PAH, CAT, TAT, GCH1, NOS1
48glutamate437.5TAT, CNP, PTS, TPH1, SOD1, NOS1
49cysteine437.4SOD1, TPH1, NOS1, TAT, CAT, PAH
50h2o2436.8GCH1, NOS1, MBP, QDPR, CAT, PCBD1

GO Terms for genes affiliated with Hyperphenylalaninemia

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

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430059.8TH, TPH1, QDPR
2cytoplasmic vesicleGO:00314109.1SOD1, GCH1, TH
3mitochondrionGO:00057398.5QDPR, TH, SOD1, NEFH, TAT, PTS
4extracellular vesicular exosomeGO:00700627.7PCBD1, CNP, FAH, G6PD, QDPR, SOD1
5cytoplasmGO:00057376.3CNP, NOS1, QDPR, GCH1, CACNA1C, PCBD1
6cytosolGO:00058296.1SPR, NOS1, GCH1, TAT, CAT, PRKG2

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1catecholamine biosynthetic processGO:004242310.2TH, PAH
2dopamine biosynthetic processGO:004241610.2TH, GCH1
3arginine catabolic processGO:000652710.1NOS1, FAH
4tyrosine catabolic processGO:000657210.1FAH, TAT
5nitric oxide biosynthetic processGO:000680910.1NOS1, GCH1, SPR
6neurotransmitter biosynthetic processGO:004213610.0TH, PAH, NOS1
7negative regulation of blood pressureGO:004577610.0NOS1, GCH1
8regulation of nitric-oxide synthase activityGO:00509999.9SPR, PTS, PRKG2, GCH1
9nitric oxide metabolic processGO:00462099.8SPR, PTS, PRKG2, GCH1
10tetrahydrobiopterin biosynthetic processGO:00067299.8SPR, PTS, PCBD1, GCH1, QDPR
11response to zinc ionGO:00100439.7TH, BGLAP
12response to nutrient levelsGO:00316679.7TH, SOD1
13L-phenylalanine catabolic processGO:00065599.6PAH, FAH, PCBD1, TAT, QDPR
14regulation of organ growthGO:00466209.5SOD1, CACNA1C
15response to hypoxiaGO:00016669.5NOS1, CAT, TH
16cellular response to growth factor stimulusGO:00713639.4TH, BGLAP, CAT, NOS1
17regulation of blood pressureGO:00082179.4GCH1, CACNA1C, SOD1
18response to lipopolysaccharideGO:00324969.3GCH1, CNP, TH
19cell agingGO:00075699.2SOD1, BGLAP
20response to ethanolGO:00454719.1TH, BGLAP, SOD1, G6PD
21cellular nitrogen compound metabolic processGO:00346419.1TH, TPH1, PAH, FAH, PCBD1, TAT
22substantia nigra developmentGO:00217629.0MBP, CNP, G6PD
23small molecule metabolic processGO:00442816.7QDPR, SPR, TH, PTS, TPH1, G6PD

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

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.7NOS1, PAH, TPH1
2tetrahydrobiopterin bindingGO:00346179.7NOS1, TH
3amino acid bindingGO:00165979.5TAT, PAH, TPH1, TH
4NADP bindingGO:00506619.1SPR, G6PD, CAT, NOS1
5protein homodimerization activityGO:00428038.3PTS, SOD1, G6PD, CAT, GCH1, QDPR

Products for genes affiliated with Hyperphenylalaninemia

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Sources for Hyperphenylalaninemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet