HPA
MCID: HYP141
MIFTS: 54

Hyperphenylalaninemia (HPA) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Hyperphenylalaninemia

About this section


Fully expand this MalaCard
Wikipedia:65 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.

Aliases & Classifications for Hyperphenylalaninemia

About this section
Sources:
65Wikipedia, 20GeneTests, 44Novoseek, 62UMLS
See all sources

Hyperphenylalaninemia, Aliases & Descriptions:

Name: Hyperphenylalaninemia 65 20 44
Hyperphenylalaninaemia 65 62
 
Hpa 65


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Hyperphenylalaninemia

About this section

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 119)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.8QDPR, PAH, PTS
2gtp cyclohydrolase i deficiency31.2TH, PTS, GCH1, QDPR
3mood disorder30.9NOS1, TPH1, TH
4bipolar disorder30.7TH, NOS1
5tyrosinemia30.4TAT, FAH, PAH, PTS
6mental retardation30.4TH, PTS, TPH1, PAH, TAT, QDPR
7homocystinuria30.2G6PD, PTS
8galactosemia29.9BGLAP, G6PD, FAH, TAT
9melanoma29.6PTS, TPH1, CAT, NOS1, MBP
10schizophrenia29.3TH, TPH1, PAH, CNP, CACNA1C, NOS1
11alzheimer's disease29.2TH, PTS, TPH1, SOD1, NEFH, CAT
12mild hyperphenylalaninemia10.7
13maternal hyperphenylalaninemia10.6
14tetrahydrobiopterin deficiency10.6
15tyrosine hydroxylase deficiency10.5TH
16hyperphenylalaninemia due to dehydratase deficiency10.5
17hyperphenylalaninemia, bh4-deficient, a10.5
18dihydropteridine reductase deficiency10.4
19neuroblastoma10.4TH
20favism10.4G6PD
21cerebritis10.4
22movement disease10.4TH, GCH1
23parkinson's disease10.4GCH1, TH
24autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.4TH, TPH1
25methemoglobinemia10.4G6PD
26benign hyperphenylalaninemia10.3
27tyrosinemia type ii10.3TAT, FAH
28psychotic disorder10.3TH, TPH1, NOS1
29neonatal hypoxic and ischemic brain injury10.3TH, MBP
30bh4-deficient hyperphenylalaninemia c10.3
31prosopagnosia10.2
32progressive multifocal leukoencephalopathy10.2MBP, TAT
33hypermethioninemia10.2SOD1
34rickets10.2BGLAP, PAH, FAH
35diabetic cataract10.2CAT, G6PD
36dystonia10.2
376-pyruvoyl-tetrahydropterin synthase deficiency10.2
38tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
39hypokalemic periodic paralysis10.2QDPR, CACNA1C
40aids dementia complex10.2TAT, MBP
41toxic encephalopathy10.2CAT, NEFH, TH
42mild phenylketonuria10.2
43dementia10.1NOS1, TAT, TH
44brain disease10.1TH, TAT, MBP
45hypothyroidism10.1
46dopa-responsive dystonia due to sepiapterin reductase deficiency10.1
47dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1
48thrombocytopenia10.1
49irritable bowel syndrome10.1
50alcohol dependence10.1

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Symptoms for Hyperphenylalaninemia

About this section

Drugs & Therapeutics for Hyperphenylalaninemia

About this section

Drug clinical trials:

Search ClinicalTrials for Hyperphenylalaninemia

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

About this section

Genetic tests related to Hyperphenylalaninemia:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia20

Anatomical Context for Hyperphenylalaninemia

About this section

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

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

36 (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

About this section

Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 289)
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

About this section

Expression for genes affiliated with Hyperphenylalaninemia

About this section
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

Pathways related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV37
tetrahydrobiopterin salvage37
10.0QDPR, PAH
210.0PAH, TH
3
Show member pathways
9.9NOS1, PRKG2
49.9PRKG2, NOS1
5
Show member pathways
catecholamine biosynthesis37
9.8PAH, TPH1, TH
69.8PAH, TPH1, TH
79.7CACNA1C, TH
89.6QDPR, GCH1, PTS, SPR
99.6TH, SOD1
10
Show member pathways
9.5SPR, PTS, PRKG2, GCH1
11
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.5G6PD, PAH, TAT
129.4SOD1, CAT
13
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.4TH, PAH, FAH, TAT
149.1MBP, CNP
15
Show member pathways
9.1SOD1, CAT, NOS1
16
Show member pathways
8.9NOS1, CACNA1C, PRKG2, TPH1, TH
17
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
8.8SOD1, NEFH, CAT, NOS1
18
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.7TH, TPH1, PAH, FAH, PCBD1, TAT
198.0TH, TPH1, SOD1, NEFH, CNP, NOS1
20
Show member pathways
6.1QDPR, SPR, TH, PTS, TPH1, G6PD

Compounds for genes affiliated with Hyperphenylalaninemia

About this section

Compounds related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show top 50)    (show all 197)
idCompoundScoreTop Affiliating Genes
17-biopterin4410.2QDPR, PCBD1, PAH
2tetrahydropterin4410.1TH, TPH1, PAH
3dihydroneopterin triphosphate44 2411.1GCH1, PTS, SPR
45-hydroxytryptophan449.9PTS, TH, TPH1, QDPR
54a-hydroxytetrahydrobiopterin44 2410.8PAH, TPH1, TH, GCH1, PCBD1
6carbidopa44 2810.8TPH1, TH, PTS
7neopterin449.8PTS, GCH1, PAH, QDPR, TPH1
8Sapropterin249.7QDPR, PAH, TPH1, TH, SPR
9dihydrofolate449.7PAH, GCH1, QDPR, SPR
106-pyruvoyltetrahydropterin449.6GCH1, PCBD1, PTS, TH, QDPR, SPR
11catecholamine449.5PAH, GCH1, TPH1, PTS, TH, QDPR
12pteridine449.5PTS, SPR, TH, QDPR, NOS1, GCH1
13methamphetamine44 50 1111.5TPH1, TH, TAT, NOS1
14dihydropteridine44 2410.4PTS, SPR, TH, QDPR, GCH1, PCBD1
15diphenyliodonium449.4CAT, SOD1, NOS1
16ptio449.3SOD1, NOS1, CAT
17gtp44 2810.3QDPR, GCH1, PCBD1, PAH, PTS, TH
18nacn449.3NOS1, CAT, SOD1
19folate449.2GCH1, NOS1, QDPR, PAH, G6PD
20s-nitroso-n-acetylpenicillamine449.1TPH1, SOD1, CAT, NOS1
21pterin44 2410.1QDPR, NOS1, PCBD1, PAH, PTS, TPH1
22dihydrobiopterin44 2410.1SPR, TH, TPH1, QDPR, NOS1, GCH1
23apocynin44 6110.1NOS1, SOD1, CAT, TAT
24formate449.1SOD1, G6PD, CAT, GCH1
25corticosterone44 61 2411.0MBP, NOS1, TAT, BGLAP, TH
26NADP249.0SPR, G6PD, NOS1, QDPR, CAT
27sepiapterin44 249.9SPR, TH, QDPR, NOS1, GCH1, PCBD1
28phenylalanine448.9PTS, TPH1, PAH, FAH, GCH1, QDPR
29dopamine44 28 24 1111.7GCH1, TAT, QDPR, NOS1, TPH1, PTS
30thiobarbituric acid448.7G6PD, CAT, SOD1
31sodium nitroprusside448.6NOS1, CAT, TH, G6PD, SOD1, TPH1
32diphenyleneiodonium448.5G6PD, SOD1, TAT, CAT
33levodopa44 119.5QDPR, GCH1, PAH, SOD1, TPH1, PTS
34norepinephrine44 24 1110.4SPR, NOS1, TH, MBP, QDPR, TAT
35superoxide44 249.3NOS1, SOD1, G6PD, NEFH, TPH1, GCH1
36nadph44 249.3NOS1, CAT, GCH1, G6PD, QDPR, SOD1
37ascorbic acid44 249.1BGLAP, NOS1, GCH1, CAT, G6PD, SOD1
38nitric oxide44 24 1110.1PTS, SOD1, SPR, PAH, PRKG2, CAT
39estrogen448.0G6PD, NOS1, TPH1, GCH1, TAT, PCBD1
40aspartate448.0MBP, NOS1, TAT, FAH, PAH, G6PD
41Water247.9CAT, GCH1, NOS1, TPH1, TH, PCBD1
42arginine447.9TPH1, SOD1, PAH, TAT, BGLAP, GCH1
43tyrosine447.8FAH, MBP, TAT, QDPR, GCH1, SPR
44tetrahydrobiopterin44 24 119.8QDPR, NOS1, GCH1, CAT, PCBD1, PAH
45alanine447.7MBP, TAT, TH, BGLAP, SOD1, FAH
46serine447.7PTS, FAH, NEFH, PAH, G6PD, BGLAP
47oxygen44 248.7G6PD, PAH, CAT, TAT, GCH1, NOS1
48glutamate447.5TAT, CNP, PTS, TPH1, SOD1, NOS1
49cysteine447.4SOD1, TPH1, NOS1, TAT, CAT, PAH
50h2o2446.8GCH1, NOS1, MBP, QDPR, CAT, PCBD1

GO Terms for genes affiliated with Hyperphenylalaninemia

About this section

Cellular components related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:0430059.8QDPR, TPH1, TH
2cytoplasmic vesicleGO:0314109.1GCH1, SOD1, TH
3mitochondrionGO:0057398.5TH, PTS, SOD1, NEFH, TAT, QDPR
4extracellular vesicular exosomeGO:0700627.7SPR, SOD1, G6PD, FAH, CNP, PCBD1
5cytoplasmGO:0057376.3SPR, TH, PTS, SOD1, G6PD, NEFH
6cytosolGO:0058296.1QDPR, SPR, TH, PTS, TPH1, SOD1

Biological processes related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1catecholamine biosynthetic processGO:04242310.2TH, PAH
2dopamine biosynthetic processGO:04241610.2TH, GCH1
3arginine catabolic processGO:00652710.1NOS1, FAH
4tyrosine catabolic processGO:00657210.1FAH, TAT
5nitric oxide biosynthetic processGO:00680910.1NOS1, GCH1, SPR
6neurotransmitter biosynthetic processGO:04213610.0TH, PAH, NOS1
7negative regulation of blood pressureGO:04577610.0NOS1, GCH1
8regulation of nitric-oxide synthase activityGO:0509999.9SPR, PTS, PRKG2, GCH1
9nitric oxide metabolic processGO:0462099.8SPR, PTS, PRKG2, GCH1
10tetrahydrobiopterin biosynthetic processGO:0067299.8SPR, PTS, PCBD1, GCH1, QDPR
11response to zinc ionGO:0100439.7TH, BGLAP
12response to nutrient levelsGO:0316679.7TH, SOD1
13L-phenylalanine catabolic processGO:0065599.6PAH, FAH, PCBD1, TAT, QDPR
14regulation of organ growthGO:0466209.5SOD1, CACNA1C
15response to hypoxiaGO:0016669.5NOS1, CAT, TH
16cellular response to growth factor stimulusGO:0713639.4TH, BGLAP, CAT, NOS1
17regulation of blood pressureGO:0082179.4GCH1, CACNA1C, SOD1
18response to lipopolysaccharideGO:0324969.3GCH1, CNP, TH
19cell agingGO:0075699.2SOD1, BGLAP
20response to ethanolGO:0454719.1TH, BGLAP, SOD1, G6PD
21cellular nitrogen compound metabolic processGO:0346419.1TH, TPH1, PAH, FAH, PCBD1, TAT
22substantia nigra developmentGO:0217629.0MBP, CNP, G6PD
23small molecule metabolic processGO:0442816.7QDPR, SPR, TH, PTS, TPH1, G6PD

Molecular functions related to Hyperphenylalaninemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.8NOS1, PAH, TPH1
2tetrahydrobiopterin bindingGO:0346179.7NOS1, TH
3amino acid bindingGO:0165979.5TAT, PAH, TPH1, TH
4NADP bindingGO:0506619.1SPR, G6PD, CAT, NOS1
5protein homodimerization activityGO:0428038.3PTS, SOD1, G6PD, CAT, GCH1, QDPR

Products for genes affiliated with Hyperphenylalaninemia

About this section
  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet