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
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. (24133926)
2013
2
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
3
Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''. (21285043)
2011
4
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. (21336059)
2011
5
Incidence of neonatal hyperphenylalaninemia in fars province, South iran. (23056707)
2010
6
Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence. (17093378)
2006
7
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. (16319949)
2006
8
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. (15556637)
2004
9
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. (14601136)
2003
10
Pregnancy experiences in the woman with mild hyperphenylalaninemia. (14654663)
2003
11
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
12
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. (11443547)
2001
13
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. (11694255)
2001
14
Mutations causing hereditary hyperphenylalaninemia]. (10910639)
1999
15
Effect of experimental hyperphenylalaninemia on the postnatal rat brain. (9099613)
1997
16
Maternal non-phenylketonuric mild hyperphenylalaninemia. (8828603)
1996
17
Sustained attention in untreated non-PKU-hyperphenylalaninemia. (8877619)
1996
18
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. (7749420)
1995
19
Loss of neurotransmitter receptors by hyperphenylalaninemia in the HPH-5 mouse brain. (7766946)
1994
20
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl- tetrahydropterin synthase. (8178819)
1994
21
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. (8222274)
1993
22
Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods. (7507064)
1993
23
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
24
Disturbed myelinogenesis and recovery in hyperphenylalaninemia in rats: an immunohistochemical study. (1537394)
1992
25
Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. (2027491)
1991
26
The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia. (2381939)
1990
27
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). (2398144)
1990
28
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. (2675577)
1989
29
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. (2795366)
1989
30
Maternal phenylketonuria and hyperphenylalaninemia: implications for medical practice in the United States. (2686439)
1989
31
The effects of maternal hyperphenylalaninemia on learning in mature rats. (3172977)
1988
32
Developmental changes of myelin-associated glycoprotein in rat brain: study on experimental hyperphenylalaninemia. (2438567)
1987
33
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
1984
34
Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. (6502349)
1984
35
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals. (7106768)
1982
36
Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia. (6112253)
1981
37
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine. (7014037)
1981
38
Experimental hyperphenylalaninemia: dendritic alterations in cerebellum of rat. (6169538)
1981
39
Human dihydropteridine reductase: a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia. (41656)
1979
40
Recommended guidelines for screening programs for hyperphenylalaninemia in newborn infants. (896374)
1977
41
Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. (944951)
1976
42
The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates. (991440)
1976
43
Ultrastructural changes in rat optic nerve associated with hyperphenylalaninemia induced by para-chlorophenylalanine and phenylalanine. (123574)
1975
44
Effect of hyperphenylalaninemia on succinate dehydrogenase and glutamate dehydrogenase activities in brain regions of developing rats. (4277455)
1974
45
Persistent hyperphenylalaninemia. (5021455)
1972
46
Management of transient hyperphenylalaninemia and tyrosinemia in low birth weight Negro infants fed high protein diets. (4946844)
1971
47
Sex ratio in hyperphenylalaninemia. (5434125)
1970
48
Epidemiological considerations on maternal hyperphenylalaninemia. (5428284)
1970
49
Phenylalanine tolerance tests. In families with phenylketonuria and hyperphenylalaninemia. (5771502)
1969
50
Hyperphenylalaninemia without phenylketonuria. (6036013)
1967

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