HPA
MCID: HYP141
MIFTS: 47

Hyperphenylalaninemia (HPA) malady

Summaries for Hyperphenylalaninemia

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 liver, brain and bone marrow, and related mouse phenotypes are growth/size and behavior/neurological.

Aliases & Classifications for Hyperphenylalaninemia

Sources:
64Wikipedia, 20GeneTests, 45Novoseek, 61UMLS
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Aliases & Descriptions:

hyperphenylalaninemia 64 20 45
hyperphenylalaninaemia 64 61
hpa 64


Related Diseases for Hyperphenylalaninemia

Sources:
17GeneCards, 18GeneDecks
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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 133)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.1QDPR, PAH, PTS
2gtp cyclohydrolase i deficiency30.6TH, PTS, QDPR, GCH1
3mental retardation30.2QDPR, PTS, PAH, TPH1, TAT, TH
4tyrosinemia30.1TAT, FAH, PTS, PAH
5panic disorder29.8TPH1
6bipolar disorder29.8NOS1, TH
7arthritis29.8BGLAP, TAT
8maternal hyperphenylalaninemia10.7
9mild hyperphenylalaninemia10.7
10tetrahydrobiopterin deficiency10.6
11hyperphenylalaninemia due to dehydratase deficiency10.4
12dihydropteridine reductase deficiency10.4
13hyperphenylalaninemia, bh4-deficient, a10.4
14benign hyperphenylalaninemia10.4
15mild phenylketonuria10.3
16bh4-deficient hyperphenylalaninemia c10.2
17prosopagnosia10.2
18prosopagnosia, hereditary10.2
19tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
206-pyruvoyl-tetrahydropterin synthase deficiency10.1
21sepiapterin reductase deficiency10.1
22dopa-responsive dystonia due to sepiapterin reductase deficiency10.1
23dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1
24irritable bowel syndrome10.1
25anxiety disorder10.1
26thrombocytopenia10.1
27anorexia nervosa10.0TPH1
28hypertension10.0TH
29cerebral palsy10.0GCH1
30stomach cancer10.0PTS
31autoimmune polyendocrine syndrome10.0TPH1
32neuroblastoma10.0TH
33borderline personality disorder10.0TPH1
34migraine10.0TPH1
35neuropathy10.0NEFH
36tyrosine hydroxylase deficiency10.0TH
37pneumonia10.0NOS1
38pick's disease10.0PTS
39rett syndrome10.0TH
40obsessive-compulsive disorder10.0TPH1
41thalassemia10.0G6PD
42multiple sclerosis10.0CNP
43obesity10.0PTS, NOS1
44iron deficiency anemia10.0G6PD
45viral hepatitis10.0G6PD
46sickle cell disease10.0G6PD
47hyperthyroidism10.0BGLAP
48favism10.0G6PD
49prion disease10.0CAT
50hypothyroidism10.0CNP

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Clinical Features for Hyperphenylalaninemia

Drugs & Therapeutics for Hyperphenylalaninemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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

Sources:
20GeneTests
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Genetic tests related to Hyperphenylalaninemia:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia20

Anatomical Context for Hyperphenylalaninemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperphenylalaninemia:

33
Liver, Brain, Bone marrow, Cortex, Cerebellum, Thyroid, T cells, B lymphoblasts, B cells, Fetal brain, Fetal liver, Fetal thyroid

Animal Models for Hyperphenylalaninemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

37
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

Sources:
51PubMed
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Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 289)
idTitleAuthorsYear
1
Mutation analysis in hyperphenylalaninemia patients from South Italy. (23792259)
2013
2
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. (23942198)
2013
3
Mild hyperphenylalaninemia: to treat or not to treat. (21347590)
2011
4
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. (21336059)
2011
5
Spotlight on sapropterin in primary hyperphenylalaninemia. (19627172)
2009
6
Bone mineral turnover and bone densitometry in patients with a high-risk diet: hyperphenylalaninemia and galactosemia]. (16219275)
2005
7
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. (14601136)
2003
8
BH4-sensitive hyperphenylalaninemia: new case and review of literature. (12770680)
2003
9
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
10
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. (10404727)
1999
11
Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. (9921872)
1999
12
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. (10495930)
1999
13
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non- phenylketonuria hyperphenylalaninemia. (9852673)
1998
14
Antioxidant status in hyperphenylalaninemia. (9760015)
1998
15
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. (9760199)
1998
16
Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia. (8618906)
1995
17
Loss of neurotransmitter receptors by hyperphenylalaninemia in the HPH-5 mouse brain. (7766946)
1994
18
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl- tetrahydropterin synthase. (8178819)
1994
19
Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. (8432076)
1993
20
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. (1301942)
1992
21
Disturbed myelinogenesis and recovery in hyperphenylalaninemia in rats: an immunohistochemical study. (1537394)
1992
22
Genetics and hyperphenylalaninemias in 1992]. (1363245)
1992
23
The metabolic basis of the hyperphenylalaninemias and tyrosinemia]. (1357201)
1992
24
Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction]. (1413808)
1992
25
On the mechanism of permanent brain dysfunction in hyperphenylalaninemia. (1793607)
1991
26
Malignant hyperphenylalaninemia: CT and MR of the brain. (2105595)
1990
27
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). (2398144)
1990
28
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level? (2181433)
1990
29
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. (2795366)
1989
30
Cerebral serotonin regulation by phenylalanine analogues and during hyperphenylalaninemia. (2436623)
1987
31
Developmental changes of myelin-associated glycoprotein in rat brain: study on experimental hyperphenylalaninemia. (2438567)
1987
32
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
1984
33
More on untreated maternal hyperphenylalaninemia. (6482926)
1984
34
Effect of experimental hyperphenylalaninemia on biogenic amine synthesis at later stages of brain development. (6615490)
1983
35
Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin. (6139056)
1983
36
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine. (7014037)
1981
37
Experimental hyperphenylalaninemia: dendritic alterations in cerebellum of rat. (6169538)
1981
38
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. (7421947)
1980
39
Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria. (487572)
1979
40
Effect of postweaning hyperphenylalaninemia on brain development in rats: myelination, lipid, and fatty acid composition of myelin. (152206)
1978
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
Maternal hyperphenylalaninemia: an experimental model in rats. (986972)
1976
43
Use of a formula based on whey protein concentrate in the feeding of an infant with hyperphenylalaninemia. (4462035)
1974
44
Effect of hyperphenylalaninemia on amino acid metabolism and compartmentation in neonatal rat brain. (4157167)
1974
45
Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin. (4357501)
1973
46
Report on a cooperative study of various fluorometric procedures and the Guthrie Bacterial Inhibition Assay in the determination of hyperphenylalaninemia. (4720476)
1973
47
Hyperphenylalaninemia and pregnancy. (5078181)
1972
48
Differential effects of hyperphenylalaninemia on the development of the brain in the rat. (5165736)
1971
49
Dietary induction of hyperphenylalaninemia in the rat. (6067644)
1967
50
Hyperphenylalaninemia without phenylketonuria. (6036013)
1967

Genetic Variations for Hyperphenylalaninemia

Expression for genes affiliated with Hyperphenylalaninemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 50PharmGKB, 52QIAGEN, 4Cell Signaling Technology
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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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
17-biopterin4510.3QDPR, PAH, PCBD1
27,8-Dihydrobiopterin1110.2PCBD1, PAH, TH
3tetrahydropterin4510.2TH, PAH, TPH1
4dihydroneopterin triphosphate45 2411.2GCH1, PTS, SPR
5carbidopa45 2911.0TPH1, PTS, TH
6oxygen45 2411.0NOS1, PAH, PTS, TPH1
75-hydroxytryptophan4510.0TPH1, PTS, TH, QDPR
8diphenyleneiodonium459.9SOD1, TAT
9dihydrofolate459.9PAH, SPR, QDPR, GCH1
10neopterin459.8PTS, TPH1, PAH, QDPR, GCH1
11L-Tyrosine11 2410.8TAT, TH, PAH
12nacn459.8NOS1, CAT, SOD1
13ptio459.8SOD1, CAT, NOS1
14diphenyliodonium459.7CAT, NOS1, SOD1
15methamphetamine45 50 1111.7TAT, TPH1, NOS1, TH
166-pyruvoyltetrahydropterin459.7QDPR, SPR, PTS, TH, PCBD1, GCH1
17L-Phenylalanine11 2410.6PAH, TH, TAT
18catecholamine459.6PAH, PTS, TPH1, TH, QDPR, GCH1
19pteridine459.6SPR, GCH1, QDPR, TH, NOS1, PTS
20thiobarbituric acid459.6SOD1, G6PD, CAT
21s-nitroso-n-acetylpenicillamine459.5NOS1, TPH1, SOD1, CAT
22formate459.5CAT, SOD1, GCH1, G6PD
23apocynin45 6010.5CAT, TAT, NOS1, SOD1
24dihydropteridine45 2410.5PAH, TH, PCBD1, QDPR, GCH1, SPR
25folate459.4PAH, NOS1, QDPR, G6PD, GCH1
26gtp45 2910.4PAH, GCH1, QDPR, PCBD1, SPR, PTS
274a-hydroxytetrahydrobiopterin45 2410.3TPH1, PAH, TH, PCBD1, PCBD2, GCH1
28norepinephrine45 11 2411.3TAT, GCH1, QDPR, TPH1, SPR, PAH
29peroxynitrite459.2TPH1, NOS1, SOD1, CAT
30pterin45 2410.2TPH1, SPR, PAH, NOS1, TH, PCBD1
31tetrahydrobiopterin45 11 2411.2GCH1, QDPR, PCBD1, TH, NOS1, PAH
32dihydrobiopterin45 2410.2TPH1, SPR, PAH, NOS1, TH, PCBD1
33sodium azide459.0CAT, SOD1, G6PD
34sodium nitroprusside459.0TPH1, TH, G6PD, SOD1, CAT, NOS1
35sepiapterin45 2410.0TH, PCBD1, QDPR, GCH1, NOS1, PAH
36phenylalanine459.0FAH, TH, SPR, PTS, PAH, GCH1
37dmso458.9NOS1, TPH1, G6PD, SOD1, CAT
38levodopa45 119.9TH, PAH, PTS, QDPR, SOD1, CAT
39dopamine45 29 11 2411.9QDPR, PTS, PAH, NOS1, TH, TPH1
40superoxide45 249.8SOD1, NOS1, G6PD, NEFH, GCH1, TPH1
41nadph45 249.7PTS, QDPR, SPR, NOS1, G6PD, SOD1
42nitric oxide45 11 2410.5GCH1, CAT, PRKG2, SOD1, TPH1, SPR
43tyrosine458.4PTS, PAH, TH, TAT, QDPR, TPH1
44aspartate458.2FAH, BGLAP, TAT, TH, G6PD, PTS
45arginine458.2GCH1, TAT, NOS1, PAH, PTS, TPH1
46ascorbic acid45 249.1G6PD, BGLAP, TPH1, PTS, SOD1, NOS1
47alanine458.0FAH, BGLAP, QDPR, TAT, TH, NOS1
48estrogen458.0TPH1, TH, PCBD1, GCH1, BGLAP, G6PD
49cysteine457.8CAT, BGLAP, PTS, PAH, TPH1, SOD1
50h2o2457.3PCBD1, GCH1, BGLAP, CAT, SOD1, G6PD

GO Terms for genes affiliated with Hyperphenylalaninemia

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

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Sources for Hyperphenylalaninemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet