PKU
MCID: PHN003
MIFTS: 93

Phenylketonuria (PKU) malady

Metabolic diseases, Neuronal diseases, Fetal diseases categories

Summaries for Phenylketonuria

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 Phenylketonuria (pku) is a genetic disorder in which the body can't process part of a protein called phenylalanine (phe). phe is in almost all foods. if the phe level gets too high, it can damage the brain and cause severe intellectual disability. all babies born in u.s. hospitals must now have a screening test for pku. this makes it easier to diagnose and treat the problem early. the best treatment for pku is a diet of low-protein foods. there are special formulas for newborns. for older children and adults, the diet includes many fruits and vegetables. it also includes some low-protein breads, pastas and cereals. nutritional formulas provide the vitamins and minerals they can't get from their food. babies who get on this special diet soon after they are born develop normally. many have no symptoms of pku. it is important that they stay on the diet for the rest of their lives. nih: national institute of child health and human development

MalaCards: Phenylketonuria, also known as PKU, is related to hyperphenylalaninemia and hypothyroidism, and has symptoms including cataract/lens opacification, tight skin/lack of elasticity and intracranial/cerebral calcifications. An important gene associated with Phenylketonuria is PAH (phenylalanine hydroxylase), and among its related pathways are tyrosine biosynthesis IV and Folate biosynthesis. The compounds 7-biopterin and 6-pyruvoyltetrahydropterin have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and liver, and related mouse phenotypes are liver/biliary system and integument.

Disease Ontology:8 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (pah), rendering it nonfunctional.

NIH Rare Diseases:42 Phenylketonuria (pku) is an inherited condition that is caused by toxic levels of phenylalanine in the body. if left untreated, this buildup of phenylalanine can cause severe intellectual disabilities.  because pku can be detected by a simple blood test and is treatable, newborn screening is available for this disorder. last updated: 11/30/2009

Genetics Home Reference:21 Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

Wikipedia:63 Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation... more...

Description from OMIM:46 261600

GeneReviews summary for pku

Aliases & Classifications for Phenylketonuria

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 39NCIt, 34MeSH, 27ICD9CM, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
phenylketonuria:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal
maternal phenylketonuria:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy
classical phenylketonuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

phenylketonuria 8 9 63 42 20 22 21 46 10 48 33 30
pku 8 63 42 21 48
phenylalanine hydroxylase deficiency 19 42 20 48
classical phenylketonuria 63 48 60
folling disease 63 42 21
pah deficiency 19 21 48
deficiency disease, phenylalanine hydroxylase 63 21
phenylalanine hydroxylase deficiency disease 63 21
maternal phenylketonuria 8 48
phenylketonurias 44 60
carbamoyl-phosphate synthase i deficiency disease 60
hyperphenylalaninemic embryopathy 48
maternal hyperphenylalaninemia 48
oligophrenia phenylpyruvica 42
phenylketonuric embryopathy 48
phenylketonuria classical 44
phenylketonuria, maternal 60
phenylketonuria maternal 44
classic phenylketonuria 48
f& 248;lling's disease 8
folling's disease 21
phenylalaninemia 8
classical pku 48
maternal pku 48
classic pku 48


External Ids:

Disease Ontology8 DOID:9281
NCIt39 C81315
ICD9CM27 270.1
OMIM46 261600
MESH via Orphanet35 D010661
ICD10 via Orphanet26 E70.0, E70.1, P00.8
UMLS via Orphanet61 C0031485
SNOMED-CT via Orphanet57 297225000, 7573000
ICD1025 E70.0

Related Diseases for Phenylketonuria

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Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia31.0QDPR, TPH1, PTS, PAH, TH, PCBD1
2hypothyroidism30.6TTR, BTD
3maple syrup urine disease30.6OTC, BTD, HADHA
4congenital hypothyroidism30.5G6PD, BTD, ACADM
5galactosemia30.4HADHA, G6PD, BTD, TTR
6obesity30.1CSN1S1, HCRT, PTS
7homocystinuria30.1HADHA, G6PD, BTD, OTC, PTS, ADSL
8hepatitis30.0OTC, TTR
9brain disease30.0HCRT, BTD, TH, OTC, ACADM, ADSL
10leukemia30.0LBR, QDPR, HBB, TTR, OTC
11congenital heart defect30.0G6PD, QDPR, TTR, TH, ACADM
12intellectual disability29.8PAH
13glycogen storage disease29.8OTC, BTD
14congenital adrenal hyperplasia29.8HADHA, BTD, ACADM
15parkinson's disease29.8HCRT, TTR, TH, PAH, TPH1
16cystic fibrosis29.8HADHA, BTD, HBB, OTC, ACADM, PAH
17alzheimer's disease29.8CSN1S1, LBR, HCRT, TTR, TH, PTS
18carbamoyl phosphate synthetase i deficiency disease10.6
19tangier disease10.4
20selective igm deficiency disease10.4
21choline deficiency disease10.4
22selective igg deficiency disease10.4
23gm2 activator deficiency10.4
24cerebritis10.3
25tetrahydrobiopterin deficiency10.2
26tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
27mild phenylketonuria10.2
28vitamin b12 deficiency10.1
29bh4-deficient hyperphenylalaninemia c10.1
30microcephaly10.0
31acute leukemia10.0
32maternal hyperphenylalaninemia10.0
33autoimmune polyendocrine syndrome10.0TPH1
34hypertension10.0TH
35down syndrome10.0HBB
36rett syndrome10.0OTC, TH
37reye syndrome10.0ACADM, OTC
38guillain-barre syndrome10.0HCRT
39gtp cyclohydrolase i deficiency10.0QDPR, TH, PTS
40multiple carboxylase deficiency10.0ACADM, OTC, BTD
41tyrosinemia10.0BTD, PAH, PTS, GSTZ1
42anorexia nervosa10.0TPH1, TTR, HCRT
43argininosuccinic aciduria10.0OTC, ADSL
44lysinuric protein intolerance10.0OTC, SLC7A5, G6PD
45prion disease10.0HCRT
46medium-chain acyl-coenzyme a dehydrogenase deficiency10.0HADHA, BTD, ACADM
47hemoglobinopathy10.0G6PD, BTD, HBB
48diabetes mellitus10.0PTS, G6PD, CSN1S1
49histiocytosis-lymphadenopathy plus syndrome10.0HBB, G6PD
50organic acidemia10.0BTD, ACADM

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to phenylketonuria

Clinical Features for Phenylketonuria

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

261600

Clinical synopsis from OMIM:

261600

Symptoms:

48 (show all 25)
  • cataract/lens opacification
  • tight skin/lack of elasticity
  • intracranial/cerebral calcifications
  • motor deficit/trouble
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • auto-aggressivity/auto-mutilation
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • autism/autistic disoders
  • psychic/behavioural troubles
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal odour of the urine
  • decreased hair pigmentation/hypopigmentation of hair
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • congenital cardiac anomaly/malformation/cardiopathy
  • autosomal recessive inheritance
  • aminoacid metabolism anomalies/aminoaciduria
  • microcephaly
  • hyperactivity/attention deficit
  • troubles of memory/amnesia/hypermnesia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypereflexia
  • hypertonia/spasticity/rigidity/stiffness
  • tremor
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • eczema

Drugs & Therapeutics for Phenylketonuria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Phenylketonuria

Drug clinical trials:

Search ClinicalTrials for Phenylketonuria

Search NIH Clinical Center for Phenylketonuria

Search CenterWatch for Phenylketonuria

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Phenylketonuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Phenylketonuria:
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Phenylketonuria:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636

Genetic Tests for Phenylketonuria

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20GeneTests, 22GTR
See all sources

Genetic tests related to Phenylketonuria:

id Genetic test Affiliating Genes
1 Phenylalanine Hydroxylase Deficiency20 PAH
2 Phenylketonuria20 22

Anatomical Context for Phenylketonuria

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Phenylketonuria:

32
Testes, Brain, Liver, Bone, Skin, Heart, Cortex, Prefrontal cortex, Amygdala, Whole blood, Kidney, Breast, T cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Phenylketonuria:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Phenylketonuria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Phenylketonuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.1GSTZ1, ACADM, OTC, TH, HBB, HADHA
2MP:00107719.9CSN1S1, LBR, BTD, PCBD1, HBB, TH
3MP:00053859.8HADHA, G6PD, HCRT, HBB, TH, ACADM
4MP:00053679.7HADHA, BTD, PCBD1, HBB, OTC, PAH
5MP:00053789.7BTD, HCRT, G6PD, LBR, HADHA, HBB
6MP:00053769.6GSTZ1, HADHA, LBR, G6PD, HCRT, BTD

Publications for Phenylketonuria

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50PubMed
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Articles related to Phenylketonuria:

(show top 50)    (show all 754)
idTitleAuthorsYear
1
Children with phenylketonuria treated early: basic audiological and electrophysiological evaluation. (23038064)
2013
2
Refractory hypotension after bilateral nephrectomies in a Denys-Drash patient with phenylketonuria. (22992984)
2013
3
Later effects of metabolic control in phenylketonuria. (23562163)
2013
4
Lower n-3 long-chain polyunsaturated fatty acid values in patients with phenylketonuria: a systematic review and meta-analysis. (23827125)
2013
5
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. (24373161)
2013
6
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. (23928118)
2013
7
Caring for children with phenylketonuria. (23946023)
2013
8
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. (23219290)
2013
9
High prevalence of overweight and obesity in females with phenylketonuria. (22846370)
2012
10
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients. (22112818)
2012
11
Impact of lipophilic antioxidants and level of antibodies against oxidized low-density lipoprotein in Polish children with phenylketonuria. (21895448)
2012
12
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector. (21322099)
2011
13
Adherence to diet and quality of life in patients with phenylketonuria. (21342250)
2011
14
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. (20595329)
2011
15
Phenylketonuria-related synaptic changes in a BTBR-Pah(enu2) mouse model. (21734610)
2011
16
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. (20123475)
2010
17
Challenges and pitfalls in the management of phenylketonuria. (20624808)
2010
18
Advances and challenges in phenylketonuria. (21086047)
2010
19
Executive function in early-treated phenylketonuria: profile and underlying mechanisms. (20123466)
2010
20
Esophageal atresia concomitant with congenital hypothyroidism and phenylketonuria in a newborn. (20432825)
2010
21
Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]. (20140859)
2010
22
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. (18956252)
2009
23
Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria. (19215250)
2009
24
Response monitoring in children with phenylketonuria. (19210041)
2009
25
Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? (19191004)
2009
26
Detecting 3D Corpus Callosum abnormalities in phenylketonuria. (20090172)
2009
27
Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication. (19718778)
2009
28
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. (19208488)
2009
29
Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. (19747868)
2009
30
Finding the fertile woman with phenylketonuria. (18262326)
2008
31
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria? (18581253)
2008
32
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. (18923919)
2008
33
Pharmacokinetics of sapropterin in patients with phenylketonuria. (19026037)
2008
34
Tetrahydrobiopterin for patients with phenylketonuria. (17693159)
2007
35
Progressive sclerodermatous skin changes in a child with phenylketonuria. (16650221)
2006
36
Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. (16879198)
2006
37
Behavioural factors related to metabolic control in patients with phenylketonuria. (16151893)
2005
38
Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. (16040919)
2005
39
MR imaging-based volumetry in patients with early-treated phenylketonuria. (16091513)
2005
40
Serum levels of neural protein S-100B in phenylketonuria. (14675567)
2004
41
Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. (15346830)
2004
42
The impact of phenylketonuria on folate metabolism. (12208135)
2002
43
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. (12501224)
2002
44
Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria. (9799096)
1998
45
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. (8444221)
1993
46
Cranial CT and MRI in malignant phenylketonuria. (1508595)
1992
47
In vitro OKT3-induced mitogenesis in selenium-deficient patients on a diet for phenylketonuria. (1720644)
1991
48
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. (2246858)
1990
49
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). (2398144)
1990
50
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. (1196708)
1975

Genetic Variations for Phenylketonuria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Phenylketonuria:

62 (show all 222)
id Symbol AA change Variation ID SNP ID
1PAHp.Ser16ProVAR_000869
2PAHp.Phe39LeuVAR_000870
3PAHp.Phe39LeuVAR_000870
4PAHp.Ser40LeuVAR_000872
5PAHp.Leu41PheVAR_000873
6PAHp.Lys42IleVAR_000874
7PAHp.Gly46SerVAR_000875
8PAHp.Ala47ValVAR_000876
9PAHp.Leu48SerVAR_000877
10PAHp.Arg53HisVAR_000878rs118092776
11PAHp.Phe55LeuVAR_000879
12PAHp.Phe55LeuVAR_000879
13PAHp.Glu56AspVAR_000880
14PAHp.Ile65AsnVAR_000882rs75193786
15PAHp.Ile65ThrVAR_000883rs75193786
16PAHp.Ser67ProVAR_000884
17PAHp.Arg68SerVAR_000885
18PAHp.Glu76AlaVAR_000886
19PAHp.Asp84TyrVAR_000887
20PAHp.Ser87ArgVAR_000888
21PAHp.Thr92IleVAR_000889
22PAHp.Leu98SerVAR_000891
23PAHp.Ala104AspVAR_000892
24PAHp.Thr124IleVAR_000893
25PAHp.Asp129TyrVAR_000894
26PAHp.Asp143GlyVAR_000895
27PAHp.His146TyrVAR_000896
28PAHp.Gly148SerVAR_000897
29PAHp.Asp151HisVAR_000898
30PAHp.Tyr154AsnVAR_000899
31PAHp.Arg157AsnVAR_000900
32PAHp.Arg158GlnVAR_000901
33PAHp.Arg158TrpVAR_000902
34PAHp.Gln160ProVAR_000903
35PAHp.Phe161SerVAR_000904
36PAHp.Ile164ThrVAR_000905
37PAHp.Asn167IleVAR_000906rs77554925
38PAHp.His170ArgVAR_000907
39PAHp.Gly171AlaVAR_000908
40PAHp.Gly171ArgVAR_000909
41PAHp.Pro173ThrVAR_000910
42PAHp.Ile174ThrVAR_000911
43PAHp.Pro175AlaVAR_000912
44PAHp.Arg176LeuVAR_000913
45PAHp.Arg176ProVAR_000914
46PAHp.Val177LeuVAR_000915
47PAHp.Glu178GlyVAR_000916
48PAHp.Val190AlaVAR_000917
49PAHp.Leu194ProVAR_000918
50PAHp.His201ArgVAR_000922
51PAHp.His201TyrVAR_000923
52PAHp.Tyr204CysVAR_000924
53PAHp.Tyr206AspVAR_000925
54PAHp.Asn207AspVAR_000926
55PAHp.Asn207SerVAR_000927
56PAHp.Pro211ThrVAR_000928
57PAHp.Leu212ProVAR_000929
58PAHp.Leu213ProVAR_000930
59PAHp.Cys217GlyVAR_000931
60PAHp.Gly218ValVAR_000932
61PAHp.Glu221GlyVAR_000933
62PAHp.Asp222ValVAR_000934
63PAHp.Ile224MetVAR_000935
64PAHp.Pro225ArgVAR_000936
65PAHp.Pro225ThrVAR_000937
66PAHp.Val230IleVAR_000938
67PAHp.Ser231ProVAR_000939
68PAHp.Phe233LeuVAR_000940
69PAHp.Thr238ProVAR_000941
70PAHp.Gly239SerVAR_000942
71PAHp.Arg241CysVAR_000943
72PAHp.Arg241CysVAR_000943
73PAHp.Arg241HisVAR_000944
74PAHp.Arg241LeuVAR_000945
75PAHp.Leu242PheVAR_000946
76PAHp.Arg243GlnVAR_000947
77PAHp.Arg243GlnVAR_000947
78PAHp.Pro244LeuVAR_000948
79PAHp.Val245AlaVAR_000949
80PAHp.Val245AlaVAR_000949
81PAHp.Val245AlaVAR_000949
82PAHp.Val245GluVAR_000950
83PAHp.Val245LeuVAR_000951
84PAHp.Ala246AspVAR_000952
85PAHp.Gly247ValVAR_000953
86PAHp.Leu248ProVAR_000954
87PAHp.Leu249PheVAR_000955
88PAHp.Arg252GlyVAR_000956
89PAHp.Arg252GlnVAR_000957
90PAHp.Arg252TrpVAR_000958
91PAHp.Leu255ValVAR_000959
92PAHp.Leu255SerVAR_000960
93PAHp.Gly257CysVAR_000961
94PAHp.Ala259ThrVAR_000962
95PAHp.Ala259ValVAR_000963
96PAHp.Arg261ProVAR_000964
97PAHp.Arg261GlnVAR_000965rs5030849
98PAHp.Arg261GlnVAR_000965rs5030849
99PAHp.Phe263LeuVAR_000966
100PAHp.His264LeuVAR_000967
101PAHp.Cys265GlyVAR_000968
102PAHp.Ile269LeuVAR_000969
103PAHp.Arg270LysVAR_000970
104PAHp.Arg270SerVAR_000971
105PAHp.His271TyrVAR_000972
106PAHp.Ser273PheVAR_000973
107PAHp.Met276IleVAR_000974
108PAHp.Met276ValVAR_000975
109PAHp.Tyr277CysVAR_000976
110PAHp.Tyr277AspVAR_000977
111PAHp.Thr278AlaVAR_000978
112PAHp.Thr278AsnVAR_000979
113PAHp.Glu280LysVAR_000980
114PAHp.Pro281LeuVAR_000981
115PAHp.Asp282AsnVAR_000982
116PAHp.Ile283PheVAR_000983
117PAHp.Ile283AsnVAR_000984
118PAHp.Arg297CysVAR_000985
119PAHp.Arg297HisVAR_000986
120PAHp.Phe299CysVAR_000987
121PAHp.Ala300SerVAR_000988
122PAHp.Ala300SerVAR_000988
123PAHp.Ala300ValVAR_000989
124PAHp.Ser303ProVAR_000990
125PAHp.Gln304ArgVAR_000991
126PAHp.Ile306ValVAR_000992
127PAHp.Ala309AspVAR_000993
128PAHp.Ala309ValVAR_000994
129PAHp.Ser310PheVAR_000995
130PAHp.Leu311ProVAR_000996
131PAHp.Pro314HisVAR_000997
132PAHp.Ala322GlyVAR_000998
133PAHp.Ala322ThrVAR_000999
134PAHp.Phe331LeuVAR_001000
135PAHp.Leu333PheVAR_001001
136PAHp.Cys334SerVAR_001002
137PAHp.Gly337ValVAR_001003
138PAHp.Asp338TyrVAR_001004
139PAHp.Lys341ArgVAR_001005
140PAHp.Lys341ThrVAR_001006
141PAHp.Ala342ThrVAR_001007
142PAHp.Tyr343CysVAR_001008
143PAHp.Ala345SerVAR_001009
144PAHp.Ala345ThrVAR_001010
145PAHp.Leu347PheVAR_001011
146PAHp.Leu348ValVAR_001012
147PAHp.Ser349LeuVAR_001013
148PAHp.Ser349ProVAR_001014
149PAHp.Ser350ThrVAR_001015
150PAHp.Pro362ThrVAR_001016
151PAHp.Pro366HisVAR_001019
152PAHp.Thr372SerVAR_001020
153PAHp.Tyr377CysVAR_001021
154PAHp.Thr380MetVAR_001022
155PAHp.Tyr386CysVAR_001023
156PAHp.Tyr387HisVAR_001024
157PAHp.Val388LeuVAR_001025
158PAHp.Val388MetVAR_001026
159PAHp.Glu390GlyVAR_001027
160PAHp.Glu390GlyVAR_001027
161PAHp.Asp394AlaVAR_001028
162PAHp.Asp394HisVAR_001029
163PAHp.Ala395GlyVAR_001030
164PAHp.Ala395ProVAR_001031
165PAHp.Ala403ValVAR_001033rs5030857
166PAHp.Ala403ValVAR_001033rs5030857
167PAHp.Arg408GlnVAR_001034
168PAHp.Arg408TrpVAR_001035rs5030858
169PAHp.Arg408TrpVAR_001035rs5030858
170PAHp.Arg413ProVAR_001036
171PAHp.Arg413ProVAR_001036
172PAHp.Arg413SerVAR_001037
173PAHp.Tyr414CysVAR_001038
174PAHp.Tyr414CysVAR_001038
175PAHp.Asp415AsnVAR_001039
176PAHp.Asp415AsnVAR_001039
177PAHp.Asp415AsnVAR_001039
178PAHp.Thr418ProVAR_001040
179PAHp.Leu430ProVAR_001041
180PAHp.Ala447AspVAR_001042
181PAHp.Gln20LeuVAR_009239
182PAHp.Leu41ProVAR_009240
183PAHp.Ser110CysVAR_009241
184PAHp.Arg155ProVAR_009242
185PAHp.Glu183GlnVAR_009243
186PAHp.Ser231PheVAR_009244
187PAHp.Tyr325CysVAR_009245
188PAHp.Glu330AspVAR_009246
189PAHp.Gly344ArgVAR_009247
190PAHp.Gly344ValVAR_009248
191PAHp.Phe410SerVAR_009249
192PAHp.Asp145ValVAR_011566
193PAHp.Asn167SerVAR_011567rs77554925
194PAHp.Arg169HisVAR_011568
195PAHp.His170AspVAR_011569
196PAHp.Ile174ValVAR_011570
197PAHp.Glu205AlaVAR_011571
198PAHp.Phe240SerVAR_011572
199PAHp.Ile318ThrVAR_011574
200PAHp.Cys357GlyVAR_011575
201PAHp.Pro407SerVAR_011576
202PAHp.His290TyrVAR_067758
203PAHp.Ala322ValVAR_067759
204PAHp.Ile421SerVAR_067760
205PAHp.Val45AlaVAR_067994
206PAHp.Asn61AspVAR_067995
207PAHp.Leu62ProVAR_067996
208PAHp.Ile65SerVAR_067997rs75193786
209PAHp.Ile65ValVAR_067998
210PAHp.Ile65ValVAR_067998
211PAHp.Glu76GlyVAR_067999
212PAHp.Arg157SerVAR_068000
213PAHp.His170GlnVAR_068001
214PAHp.Val177MetVAR_068002
215PAHp.Gln226HisVAR_068003
216PAHp.Pro275LeuVAR_068004
217PAHp.Ser310TyrVAR_068005
218PAHp.Pro314SerVAR_068006
219PAHp.Pro407LeuVAR_068007
220PAHp.Tyr417HisVAR_068008
221PAHp.Phe121LeuVAR_069776
222PAHp.Ser196TyrVAR_069777

Expression for genes affiliated with Phenylketonuria

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

Search GEO for disease gene expression data for Phenylketonuria.

Pathways for genes affiliated with Phenylketonuria

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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome
See all sources

Compounds for genes affiliated with Phenylketonuria

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Phenylketonuria according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
17-biopterin4410.7QDPR, PCBD1, PAH
26-pyruvoyltetrahydropterin4410.7TH, PCBD1, QDPR, PTS
37,8-Dihydrobiopterin1110.6PAH, TH, PCBD1
4tetrahydropterin4410.6TPH1, PAH, TH
54a-hydroxytetrahydrobiopterin44 2411.6TH, TPH1, PAH, PCBD1
6dihydropteridine44 2411.6PTS, PAH, TH, PCBD1, QDPR
7tetrahydrobiopterin44 11 2412.6QDPR, TH, PAH, TPH1, PCBD1
8dihydrobiopterin44 2411.6TPH1, PAH, TH, PCBD1, QDPR
95-hydroxytryptophan4410.6TPH1, PTS, TH, QDPR
10sepiapterin44 2411.6QDPR, TH, PAH, PTS, PCBD1, TPH1
11pterin44 2411.6PCBD1, QDPR, TH, PAH, PTS, TPH1
12catecholamine4410.5PTS, PAH, TH, TPH1, HCRT, QDPR
13levodopa44 1111.5PTS, TPH1, QDPR, TH, SLC7A5, PAH
14neopterin4410.5TTR, PTS, TPH1, QDPR, PAH, LBR
15amine4410.5TPH1, PAH, QDPR, PTS, HBB
16carbidopa44 2811.5TH, TPH1, PTS
17pteridine4410.5QDPR, PTS, TH
18glutamate4410.4TPH1, ADSL, ACADM, OTC, HCRT, PTS
19carnitine4410.4OTC, ACADM, HADHA, TTR, G6PD
20norepinephrine44 11 2412.4QDPR, TPH1, PAH, HCRT, LBR, TTR
21histidine4410.4HBB, TPH1, ADSL, PTS, PAH, OTC
22sodium nitroprusside4410.4TPH1, CSN1S1, G6PD, HADHA, TH
23estrogen4410.4TPH1, PCBD1, TTR
24epinephrine44 11 2412.4G6PD, LBR, TTR, TH, PAH, HCRT
25valine4410.4G6PD, TTR, PAH, TPH1, CSN1S1, HBB
26urea44 11 2412.4PAH, OTC, TTR, CSN1S1, ADSL
27dopamine44 28 11 2413.3TPH1, PAH, HCRT, QDPR, PTS, TH
283-methylcrotonyl-coa44 2411.3ACADM, BTD, HADHA
29glucose4410.3SLC7A5, OTC, BTD, HCRT, ACADM, LBR
30lysine4410.3PAH, BTD, HBB, PTS, OTC, ACADM
31acetylcholine44 49 28 11 2414.3LBR, TH, TPH1, CSN1S1, HCRT, QDPR
32methionine4410.3CSN1S1, LBR, HBB, TTR, SLC7A5, TPH1
33leucine4410.3LBR, HBB, CSN1S1, TTR, SLC7A5, OTC
34aspartate4410.3CSN1S1, TH, TTR, HBB, G6PD, PTS
35folate4410.3TTR, PAH, QDPR, G6PD, CSN1S1
36acetyl-l-carnitine4410.3HADHA, ACADM, OTC
37creatinine4410.2HADHA, PCBD1, CSN1S1, ADSL, G6PD, TTR
38h2o24410.2TH, PTS, LBR, QDPR, PCBD1, HBB
39lactate4410.2HADHA, G6PD, BTD, HBB, CSN1S1, ACADM
40alanine4410.2CSN1S1, PAH, HADHA, SLC7A5, HCRT, QDPR
41atp44 2811.2ADSL, LBR, CSN1S1, HADHA, G6PD, HCRT
42glutamine4410.2TTR, TH, SLC7A5, PAH, ACADM, OTC
43cysteine4410.2TPH1, PTS, PAH, CSN1S1, LBR, TH
44arginine4410.1TPH1, PTS, PAH, ACADM, OTC, SLC7A5
45chloramphenicol44 2 1112.1LBR, ACADM, TH, HBB, OTC
46tyrosine4410.1PTS, CSN1S1, LBR, HCRT, QDPR, BTD
47phenylalanine4410.1LBR, PAH, PTS, CSN1S1, TPH1, GSTZ1
48serine4410.0HBB, SLC7A5, TTR, PAH, CSN1S1, HADHA
49gtp44 2811.0PAH, PTS, TH, PCBD1, QDPR, CSN1S1
50fatty acid449.8OTC, ACADM, HBB, HADHA, PAH, BTD

GO Terms for genes affiliated with Phenylketonuria

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Sources:
16Gene Ontology
See all sources

Cellular components related to Phenylketonuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058299.8QDPR, PCBD1, HBB, TH, SLC7A5, PAH
2mitochondrionGO:0057399.6GSTZ1, HADHA, LBR, QDPR, TH, OTC

Biological processes related to Phenylketonuria according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00672910.4PTS, PCBD1, QDPR
2L-phenylalanine catabolic processGO:00655910.4QDPR, PCBD1, PAH, GSTZ1
3neurotransmitter biosynthetic processGO:04213610.4PAH, TH
4cellular amino acid metabolic processGO:00652010.3QDPR, SLC7A5, PTS
5catecholamine biosynthetic processGO:04242310.3PAH, TH
6cellular nitrogen compound metabolic processGO:03464110.2QDPR, PCBD1, TH, OTC, PAH, TPH1
7liver developmentGO:00188910.0ACADM, OTC, QDPR
8small molecule metabolic processGO:0442819.7GSTZ1, HADHA, LBR, G6PD, QDPR, BTD

Molecular functions related to Phenylketonuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:01659710.2TPH1, PAH, OTC, TH

Products for genes affiliated with Phenylketonuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phenylketonuria

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