HPA
MCID: HYP141
MIFTS: 49

Hyperphenylalaninemia (HPA) malady

Summaries for Hyperphenylalaninemia

About this section
Sources:
63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

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

MalaCards: Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to phenylketonuria and gtp cyclohydrolase i deficiency. An important gene associated with Hyperphenylalaninemia is PTS (6-pyruvoyltetrahydropterin synthase), and among its related pathways are glutamate degradation II and NO-dependent CFTR activation (normal and CF). The compounds 7-biopterin and 7,8-Dihydrobiopterin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver, and related mouse phenotypes are growth/size and behavior/neurological.

Aliases & Classifications for Hyperphenylalaninemia

About this section
Sources:
63Wikipedia, 20GeneTests, 44Novoseek, 60UMLS
See all sources

Aliases & Descriptions:

hyperphenylalaninemia 63 20 44
hyperphenylalaninaemia 63 60
hpa 63


Related Diseases for Hyperphenylalaninemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hyperphenylalaninemia family:

Benign Hyperphenylalaninemia

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

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.1QDPR, PAH, PTS
2gtp cyclohydrolase i deficiency30.5TH, PTS, QDPR, GCH1
3mood disorder30.3TPH1, TH, NOS1
4hypothyroidism30.0CNP
5tyrosinemia30.0TAT, FAH, PTS, PAH
6galactosemia29.8FAH, G6PD, BGLAP, TAT
7panic disorder29.8TPH1
8pneumonia29.8NOS1
9bipolar disorder29.8NOS1, TH
10arthritis29.8BGLAP, TAT
11schizophrenia29.8CNP, CACNA1C, NOS1, PAH, TPH1, TH
12alzheimer's disease29.8NEFH, TPH1, CAT, PTS, NOS1, TH
13tetrahydrobiopterin deficiency10.6
14hyperphenylalaninemia due to dehydratase deficiency10.4
15hyperphenylalaninemia, bh4-deficient, a10.4
16cerebritis10.4
17maternal hyperphenylalaninemia10.3
18benign hyperphenylalaninemia10.2
19bh4-deficient hyperphenylalaninemia c10.2
20prosopagnosia10.2
21tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.1
22mild hyperphenylalaninemia10.1
23dihydropteridine reductase deficiency10.1
246-pyruvoyl-tetrahydropterin synthase deficiency10.1
25dopa-responsive dystonia due to sepiapterin reductase deficiency10.1
26dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1
27irritable bowel syndrome10.0
28alcohol dependence10.0
29anxiety disorder10.0
30purpura10.0
31thrombocytopenia10.0
32anorexia nervosa10.0TPH1
33hypertension10.0TH
34cerebral palsy10.0GCH1
35stomach cancer10.0PTS
36autoimmune polyendocrine syndrome10.0TPH1
37neuroblastoma10.0TH
38borderline personality disorder10.0TPH1
39migraine10.0TPH1
40neuropathy10.0NEFH
41tyrosine hydroxylase deficiency10.0TH
42pick's disease10.0PTS
43rett syndrome10.0TH
44obsessive-compulsive disorder10.0TPH1
45alpha thalassemia10.0G6PD
46multiple sclerosis10.0CNP
47obesity10.0PTS, NOS1
48iron deficiency anemia10.0G6PD
49viral hepatitis10.0G6PD
50sickle cell disease10.0G6PD

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Clinical Features for Hyperphenylalaninemia

About this section

Drugs & Therapeutics for Hyperphenylalaninemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hyperphenylalaninemia

Drug clinical trials:

Search ClinicalTrials for Hyperphenylalaninemia

Search NIH Clinical Center for Hyperphenylalaninemia

Search CenterWatch for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Hyperphenylalaninemia:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia20

Anatomical Context for Hyperphenylalaninemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hyperphenylalaninemia:

32
Brain, Testes, Liver, Cortex, Bone, Fetal brain, Bone marrow, Cerebellum, Thyroid

Animal Models for Hyperphenylalaninemia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6G6PD, PRKG2, CNP, TH, NOS1, PAH
2MP:00053867.3CACNA1C, SOD1, NEFH, CNP, TH, NOS1
3MP:00036317.0NEFH, G6PD, SOD1, CACNA1C, CNP, TH
4MP:00053766.1TPH1, CACNA1C, CAT, SOD1, FAH, G6PD

Publications for Hyperphenylalaninemia

About this section
Sources:
50PubMed
See all sources

Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 287)
idTitleAuthorsYear
1
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. (24376837)
2013
2
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. (23537842)
2013
3
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. (23771645)
2013
4
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. (20842687)
2011
5
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
6
Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. (17708870)
2007
7
Mitochondrial damage induced by fetal hyperphenylalaninemia in the rat brain and liver: its prevention by melatonin, Vitamin E, and Vitamin C. (16309833)
2006
8
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? (16182582)
2005
9
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. (15984017)
2005
10
Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. (15346830)
2004
11
Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. (11997085)
2002
12
Hyperphenylalaninemia and birth weight. (12381438)
2002
13
Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. (12011081)
2002
14
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. (11264437)
2001
15
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia. (11284432)
2001
16
Neuropsychological function in mild hyperphenylalaninemia. (10755172)
2000
17
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies. (10924272)
2000
18
Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia. (11035829)
2000
19
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (9521426)
1998
20
Some morphological changes in the rat thyroid gland during experimental hyperphenylalaninemia. (9185991)
1997
21
Tetrahydrobiopterin and inherited hyperphenylalaninemias. (8819618)
1996
22
Origins of hyperphenylalaninemia in Israel. (7913865)
1994
23
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. (8352282)
1993
24
Hyperphenylalaninemia. (1549248)
1992
25
Neurological outcome in 22 treated adolescents with hyperphenylalaninemia. A clinical and electrophysiological study. (1316707)
1992
26
Nonphenylketonuric hyperphenylalaninemia. (2589280)
1989
27
Mendelian hyperphenylalaninemia. (3071251)
1988
28
hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. (3360305)
1988
29
Hyperphenylalaninemia in malignant histiocytosis and virus-associated hemophagocytic syndrome. (3389140)
1988
30
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase. (3222065)
1988
31
Experimental hyperphenylalaninemia in the pregnant guinea pig: possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity. (2962329)
1987
32
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria. (3761084)
1986
33
Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency. (3873535)
1985
34
Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia. (6844267)
1983
35
Effects of maternal hyperphenylalaninemia on fetal brain development: a biochemical study. (6186515)
1983
36
Effect of experimental hyperphenylalaninemia on myelin metabolism at later stages of brain development. (6686838)
1983
37
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. (7110817)
1982
38
Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis. (7262099)
1981
39
Experimental hyperphenylalaninemia: effect on central nervous system myelin subfractions. (7349991)
1980
40
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). (7365585)
1980
41
The effect of hyperphenylalaninemia on size and density of synapses in rat neocortex. (509232)
1979
42
Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients. (884867)
1977
43
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. (978323)
1976
44
Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: deviation from proportionality with gene dosage. (1153238)
1975
45
Sex ratio in hyperphenylalaninemia. (5434124)
1970
46
Two siblings of hyperphenylalaninemia: suggestion to a genetic variant of phenylketonuria. (5442719)
1970
47
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. (5374976)
1969
48
Hyperphenylalaninemia: effect on the developing rat brain. (5813486)
1969
49
Transient hyperphenylalaninemia. (5647296)
1968
50
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta). (4968669)
1968

Genetic Variations for Hyperphenylalaninemia

About this section

Expression for genes affiliated with Hyperphenylalaninemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hyperphenylalaninemia

Search GEO for disease gene expression data for Hyperphenylalaninemia.

Pathways for genes affiliated with Hyperphenylalaninemia

About this section
Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB, 51QIAGEN, 4Cell Signaling Technology
See all sources

Pathways related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0TAT, PAH
2
NO-dependent CFTR activation (normal and CF)
9.9NOS1, PRKG2
3
Hide members
9.8TH, PAH, TPH1
49.8TH, CACNA1C
59.7SOD1, CAT
69.7CAT, SOD1
79.7GCH1, QDPR, PTS, SPR
8
Hide members
9.6SPR, PTS, PRKG2, GCH1
9
Hide members
9.5QDPR, PCBD2, PAH
10
Hide members
9.4PAH, TH, TAT, FAH
11
Hide members
9.3PAH, TAT, PCBD1, QDPR, FAH
12
Hide members
9.2CAT, SOD1, NEFH, NOS1
13
Hide members
8.8TAT, TH, NOS1, PAH, PTS, SPR
148.8FAH, QDPR, PCBD1, TAT, TH, PAH
158.5SOD1, NEFH, CNP, TH, NOS1, TPH1
16
Hide members
8.1GCH1, CACNA1C, CAT, FAH, G6PD, PRKG2

Compounds for genes affiliated with Hyperphenylalaninemia

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
17-biopterin4410.3QDPR, PAH, PCBD1
27,8-Dihydrobiopterin1110.2PCBD1, PAH, TH
3tetrahydropterin4410.2TH, PAH, TPH1
4dihydroneopterin triphosphate44 2411.2GCH1, PTS, SPR
5carbidopa44 2811.0TPH1, PTS, TH
6oxygen44 2411.0NOS1, PAH, PTS, TPH1
75-hydroxytryptophan4410.0TPH1, PTS, TH, QDPR
8diphenyleneiodonium449.9SOD1, TAT
9dihydrofolate449.9PAH, SPR, QDPR, GCH1
10neopterin449.8PTS, TPH1, PAH, QDPR, GCH1
11L-Tyrosine11 2410.8TAT, TH, PAH
12nacn449.8NOS1, CAT, SOD1
13ptio449.8SOD1, CAT, NOS1
14diphenyliodonium449.7CAT, NOS1, SOD1
15methamphetamine44 49 1111.7TAT, TPH1, NOS1, TH
166-pyruvoyltetrahydropterin449.7QDPR, SPR, PTS, TH, PCBD1, GCH1
17L-Phenylalanine11 2410.6PAH, TH, TAT
18catecholamine449.6PAH, PTS, TPH1, TH, QDPR, GCH1
19pteridine449.6SPR, GCH1, QDPR, TH, NOS1, PTS
20thiobarbituric acid449.6SOD1, G6PD, CAT
21s-nitroso-n-acetylpenicillamine449.5NOS1, TPH1, SOD1, CAT
22formate449.5CAT, SOD1, GCH1, G6PD
23apocynin44 5910.5CAT, TAT, NOS1, SOD1
24dihydropteridine44 2410.5PAH, TH, PCBD1, QDPR, GCH1, SPR
25folate449.4PAH, NOS1, QDPR, G6PD, GCH1
26gtp44 2810.4PAH, GCH1, QDPR, PCBD1, SPR, PTS
274a-hydroxytetrahydrobiopterin44 2410.3TPH1, PAH, TH, PCBD1, PCBD2, GCH1
28norepinephrine44 11 2411.3TAT, GCH1, QDPR, TPH1, SPR, PAH
29peroxynitrite449.2TPH1, NOS1, SOD1, CAT
30pterin44 2410.2TPH1, SPR, PAH, NOS1, TH, PCBD1
31tetrahydrobiopterin44 11 2411.2GCH1, QDPR, PCBD1, TH, NOS1, PAH
32dihydrobiopterin44 2410.2TPH1, SPR, PAH, NOS1, TH, PCBD1
33sodium azide449.0CAT, SOD1, G6PD
34sodium nitroprusside449.0TPH1, TH, G6PD, SOD1, CAT, NOS1
35sepiapterin44 2410.0TH, PCBD1, QDPR, GCH1, NOS1, PAH
36phenylalanine449.0FAH, TH, SPR, PTS, PAH, GCH1
37dmso448.9NOS1, TPH1, G6PD, SOD1, CAT
38levodopa44 119.9TH, PAH, PTS, QDPR, SOD1, CAT
39dopamine44 28 11 2411.9QDPR, PTS, PAH, NOS1, TH, TPH1
40superoxide44 249.8SOD1, NOS1, G6PD, NEFH, GCH1, TPH1
41nadph44 249.7PTS, QDPR, SPR, NOS1, G6PD, SOD1
42nitric oxide44 11 2410.5GCH1, CAT, PRKG2, SOD1, TPH1, SPR
43tyrosine448.4PTS, PAH, TH, TAT, QDPR, TPH1
44aspartate448.2FAH, BGLAP, TAT, TH, G6PD, PTS
45arginine448.2GCH1, TAT, NOS1, PAH, PTS, TPH1
46ascorbic acid44 249.1G6PD, BGLAP, TPH1, PTS, SOD1, NOS1
47alanine448.0FAH, BGLAP, QDPR, TAT, TH, NOS1
48estrogen448.0TPH1, TH, PCBD1, GCH1, BGLAP, G6PD
49cysteine447.8CAT, BGLAP, PTS, PAH, TPH1, SOD1
50h2o2447.3PCBD1, GCH1, BGLAP, CAT, SOD1, G6PD

GO Terms for genes affiliated with Hyperphenylalaninemia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:0314109.6TH, SOD1, GCH1
2mitochondrionGO:0057398.2SOD1, NEFH, QDPR, PCBD2, TAT, TH
3cytoplasmGO:0057376.9GCH1, CACNA1C, SOD1, G6PD, QDPR, CNP
4cytosolGO:0058296.5TPH1, GCH1, CAT, SOD1, FAH, G6PD

Biological processes related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1catecholamine biosynthetic processGO:04242310.2TH, PAH
2tyrosine catabolic processGO:00657210.1FAH, TAT
3nitric oxide biosynthetic processGO:00680910.1SPR, NOS1, GCH1
4neurotransmitter biosynthetic processGO:04213610.0TH, NOS1, PAH
5dopamine biosynthetic processGO:0424169.9TH, GCH1
6arginine catabolic processGO:0065279.9NOS1, FAH
7neurofilament cytoskeleton organizationGO:0600529.9SOD1, NEFH
8nitric oxide metabolic processGO:0462099.9SPR, PTS, PRKG2, GCH1
9regulation of nitric-oxide synthase activityGO:0509999.9GCH1, PRKG2, PTS, SPR
10response to nutrient levelsGO:0316679.8TH, SOD1
11protein heterooligomerizationGO:0512919.8PCBD1, PCBD2, GCH1
12L-phenylalanine catabolic processGO:0065599.6FAH, QDPR, PCBD1, TAT, PAH
13protein homotetramerizationGO:0512899.6PCBD1, PCBD2, CAT
14regulation of blood pressureGO:0082179.5SOD1, CACNA1C, GCH1
15regulation of organ growthGO:0466209.3SOD1, CACNA1C
16tetrahydrobiopterin biosynthetic processGO:0067299.3SPR, PTS, PCBD1, PCBD2, QDPR, GCH1
17cellular nitrogen compound metabolic processGO:0346419.1FAH, QDPR, PCBD1, TAT, TH, PAH
18cellular response to growth factor stimulusGO:0713639.1BGLAP, CAT, TH, NOS1
19response to ethanolGO:0454718.9TH, G6PD, SOD1, BGLAP
20small molecule metabolic processGO:0442817.1PRKG2, G6PD, FAH, CAT, CACNA1C, GCH1

Molecular functions related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin bindingGO:03461710.0NOS1, TH
2phenylalanine 4-monooxygenase activityGO:0045059.7PCBD2, PCBD1
3amino acid bindingGO:0165979.6TPH1, PAH, TH, TAT
4NADP bindingGO:0506619.3SPR, NOS1, G6PD, CAT
5protein homodimerization activityGO:0428038.5PTS, QDPR, G6PD, SOD1, CAT, GCH1

Products for genes affiliated with Hyperphenylalaninemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphenylalaninemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet