PKU
MCID: PHN003
MIFTS: 77

Phenylketonuria (PKU) malady

Metabolic, Neuronal, Fetal categories

Summaries for Phenylketonuria

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MedlinePlus:34 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 maple syrup urine disease, and has symptoms including autosomal recessive inheritance, nausea/vomiting/regurgitation/merycism/hyperemesis and motor deficit/trouble. 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 skin, liver and brain, 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:43 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:64 Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation... more...

Description from OMIM:47 261600

GeneReviews summary for pku

Aliases & Classifications for Phenylketonuria

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 40NCIt, 35MeSH, 27ICD9CM, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 64 43 20 22 21 47 10 49 34 31
pku 8 64 43 21 49
phenylalanine hydroxylase deficiency 19 43 20 49
classical phenylketonuria 64 49 61
folling disease 64 43 21
pah deficiency 19 21 49
deficiency disease, phenylalanine hydroxylase 64 21
phenylalanine hydroxylase deficiency disease 64 21
maternal phenylketonuria 8 49
phenylketonurias 45 61
carbamoyl-phosphate synthase i deficiency disease 61
hyperphenylalaninemic embryopathy 49
maternal hyperphenylalaninemia 49
oligophrenia phenylpyruvica 43
phenylketonuric embryopathy 49
phenylketonuria classical 45
phenylketonuria, maternal 61
phenylketonuria maternal 45
classic phenylketonuria 49
f& 248;lling's disease 8
folling's disease 21
phenylalaninemia 8
classical pku 49
maternal pku 49
classic pku 49


External Ids:

Disease Ontology8 DOID:9281
NCIt40 C81315
ICD9CM27 270.1
OMIM47 261600
MESH via Orphanet36 D010661
ICD10 via Orphanet26 E70.0, E70.1, P00.8
UMLS via Orphanet62 C0031485
ICD1025 E70.0

Related Diseases for Phenylketonuria

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 133)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia31.1QDPR, TPH1, PTS, PAH, TH, PCBD1
2maple syrup urine disease30.6OTC, BTD, HADHA
3congenital hypothyroidism30.5G6PD, BTD, ACADM
4mental retardation30.3QDPR, BTD, TH, OTC, PAH, PTS
5homocystinuria30.1HADHA, G6PD, BTD, OTC, PTS, ADSL
6brain disease30.0HCRT, BTD, TH, OTC, ACADM, ADSL
7down syndrome29.8HBB
8congenital adrenal hyperplasia29.8HADHA, BTD, ACADM
9cystic fibrosis29.8HADHA, BTD, HBB, OTC, ACADM, PAH
10mild phenylketonuria10.6
11carbamoyl phosphate synthetase i deficiency disease10.6
12tangier disease10.5
13selective igm deficiency disease10.5
14choline deficiency disease10.5
15selective igg deficiency disease10.5
16gm2 activator deficiency10.5
17maternal hyperphenylalaninemia10.4
18dihydropteridine reductase deficiency10.3
19mild hyperphenylalaninemia10.3
20tyrosine hydroxylase deficiency10.2
21neonatal hypothyroidism10.2
22n syndrome10.2
23tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
24tetrahydrobiopterin deficiency10.1
25bh4-deficient hyperphenylalaninemia c10.1
26microcephaly10.0
27acute leukemia10.0
28aminoacidopathies10.0
29cousin syndrome10.0
30pyruvate kinase deficiency10.0
31autoimmune polyendocrine syndrome10.0TPH1
32intellectual disability10.0PAH
33hypertension10.0TH
34rett syndrome10.0OTC, TH
35hepatitis10.0OTC, TTR
36reye syndrome10.0ACADM, OTC
37guillain-barre syndrome10.0HCRT
38glycogen storage disease10.0OTC, BTD
39gtp cyclohydrolase i deficiency10.0QDPR, TH, PTS
40obesity10.0CSN1S1, HCRT, PTS
41multiple carboxylase deficiency10.0ACADM, OTC, BTD
42tyrosinemia10.0BTD, PAH, PTS, GSTZ1
43anorexia nervosa10.0TPH1, TTR, HCRT
44argininosuccinic aciduria10.0OTC, ADSL
45lysinuric protein intolerance10.0OTC, SLC7A5, G6PD
46prion disease10.0HCRT
47medium-chain acyl-coenzyme a dehydrogenase deficiency10.0HADHA, BTD, ACADM
48hemoglobinopathy10.0G6PD, BTD, HBB
49diabetes mellitus10.0PTS, G6PD, CSN1S1
50histiocytosis-lymphadenopathy plus syndrome10.0HBB, G6PD

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to phenylketonuria

Clinical Features for Phenylketonuria

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

261600

Clinical synopsis from OMIM:

261600

Symptoms:

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

Drugs & Therapeutics for Phenylketonuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

Sources:
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

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Phenylketonuria:

33
Skin, Liver, Brain, Kidney, Whole blood, Cortex, Heart, Breast, T cells, B lymphoblasts, B cells, Fetal brain, Prefrontal cortex, Amygdala, Fetal liver, Adrenal cortex

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

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

Publications for Phenylketonuria

Sources:
51PubMed
See all sources

Articles related to Phenylketonuria:

(show top 50)    (show all 754)
idTitleAuthorsYear
1
Impact of geographic access to care on compliance and metabolic control in phenylketonuria. (23177662)
2013
2
Unusual presentation of two Chinese phenylketonuria sisters who were misdiagnosed for years. (24068375)
2013
3
Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents. (23296365)
2013
4
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. (23771645)
2013
5
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
6
The development of nonweighed pilot methods for estimating phenylalanine exchanges in non-phenylketonuria volunteers. (21733144)
2012
7
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program. (23033178)
2012
8
A long-term study of bone mineral density in patients with phenylketonuria under diet therapy. (22295034)
2011
9
Rapid screening of phenylketonuria using a CD microfluidic device. (21371716)
2011
10
Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria. (19996619)
2010
11
Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations. (19915519)
2010
12
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. (20187763)
2010
13
Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). (20638310)
2010
14
Phenylketonuria management from an European perspective: a commentary. (20363168)
2010
15
Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: effects of concurrent phenylalanine level and dietary control. (20123462)
2010
16
Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria (PKU). (19214054)
2009
17
Undiagnosed maternal phenylketonuria: own clinical experience and literature review. (19557660)
2009
18
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. (19444284)
2009
19
Maternal phenylketonuria. (19817251)
2009
20
Rescuing proteins of low kinetic stability by chaperones and natural ligands phenylketonuria, a case study. (19186253)
2008
21
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria. (18755275)
2008
22
Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. (18568900)
2008
23
Phenylketonuria--the lived experience. (17891216)
2007
24
Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. (17968763)
2007
25
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. (17517248)
2007
26
Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan. (17641826)
2007
27
Treating phenylketonuria: a single centre experience. (18034987)
2007
28
Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU). (16601867)
2006
29
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. (16319949)
2006
30
Phenylketonuria: management in primary care. (16886728)
2006
31
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. (15811181)
2005
32
Abnormal expression of genes associated with development and inflammation in the heart of mouse maternal phenylketonuria offspring. (16164837)
2005
33
Plasma phenylalanine in patients with phenylketonuria self-managing their diet. (15665170)
2005
34
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. (15991863)
2005
35
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. (16091307)
2005
36
A case of co-incident phenylketonuria, pemphigus foliaceus, and tinea amiantacea treated with tetracycline and nicotinamide. (12852375)
2003
37
Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels. (15792042)
2002
38
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. (12174822)
2002
39
A study of phenylketonuria heterozygotes screening in married population of Tianjin area]. (11172645)
2001
40
Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer. (10203136)
1999
41
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. (8406445)
1993
42
Mouse models of human phenylketonuria. (8375656)
1993
43
Eosinophilia-myalgia syndrome in a child with phenylketonuria. (1408523)
1992
44
Phenylketonuria: detection of a frequent haplotype 4 allele mutation. (2606484)
1989
45
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. (3702929)
1986
46
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
1984
47
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6633585)
1983
48
Cystinylglycine in plasma: diagnostic relevance for pyroglutamic acidemia, homocystinuria, and phenylketonuria. (7333014)
1981
49
Transaminations between amino acids and keto acids elevated in phenylketonuria and maple syrup urine disease. (4698286)
1973
50
A study of cerebral atrophy in phenylketonuria. Sonoencephalographic examination of 45 PKU patients. (4941188)
1970

Genetic Variations for Phenylketonuria

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Phenylketonuria:

63 (show all 222)
id Symbol AA change Variation 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

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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Phenylketonuria

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Phenylketonuria according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
17-biopterin4510.7QDPR, PCBD1, PAH
26-pyruvoyltetrahydropterin4510.7QDPR, PCBD1, TH, PTS
37,8-Dihydrobiopterin1110.6PCBD1, TH, PAH
4tetrahydropterin4510.6TH, PAH, TPH1
54a-hydroxytetrahydrobiopterin45 2411.6PCBD1, TH, PAH, TPH1
6dihydropteridine45 2411.6QDPR, PCBD1, TH, PAH, PTS
7tetrahydrobiopterin45 11 2412.6QDPR, PCBD1, TH, PAH, TPH1
8dihydrobiopterin45 2411.6QDPR, PCBD1, TH, PAH, TPH1
95-hydroxytryptophan4510.6QDPR, TH, PTS, TPH1
10sepiapterin45 2411.6QDPR, PCBD1, TH, PAH, PTS, TPH1
11pterin45 2411.6QDPR, PCBD1, TH, PAH, PTS, TPH1
12catecholamine4510.5HCRT, QDPR, TH, PAH, PTS, TPH1
13levodopa45 1111.5QDPR, TH, SLC7A5, PAH, PTS, TPH1
14neopterin4510.5LBR, QDPR, TTR, PAH, PTS, TPH1
15amine4510.5QDPR, HBB, PAH, PTS, TPH1
16carbidopa45 2911.5TH, PTS, TPH1
17pteridine4510.5PTS, TH, QDPR
18glutamate4510.4HADHA, HCRT, OTC, ACADM, PTS, ADSL
19carnitine4510.4ACADM, OTC, TTR, G6PD, HADHA
20norepinephrine45 11 2412.4LBR, HCRT, QDPR, TTR, TH, PAH
21histidine4510.4CSN1S1, HBB, OTC, PAH, PTS, ADSL
22sodium nitroprusside4510.4CSN1S1, HADHA, G6PD, TH, TPH1
23estrogen4510.4TPH1, TTR, PCBD1
24epinephrine45 11 2412.4LBR, G6PD, HCRT, TTR, TH, PAH
25valine4510.4CSN1S1, G6PD, HBB, TTR, PAH, TPH1
26urea45 11 2412.4CSN1S1, TTR, OTC, PAH, ADSL
27dopamine45 29 11 2413.3HCRT, QDPR, TTR, TH, PAH, PTS
283-methylcrotonyl-coa45 2411.3ACADM, BTD, HADHA
29glucose4510.3HADHA, LBR, HCRT, BTD, SLC7A5, OTC
30lysine4510.3CSN1S1, HADHA, QDPR, BTD, HBB, OTC
31acetylcholine45 50 29 11 2414.3CSN1S1, LBR, HCRT, QDPR, TH, TPH1
32methionine4510.3CSN1S1, LBR, HBB, TTR, SLC7A5, TPH1
33leucine4510.3PAH, OTC, SLC7A5, TTR, HBB, LBR
34aspartate4510.3CSN1S1, PTS, PAH, OTC, TH, TTR
35folate4510.3CSN1S1, G6PD, QDPR, TTR, PAH
36acetyl-l-carnitine4510.3HADHA, OTC, ACADM
37creatinine4510.2CSN1S1, HADHA, G6PD, PCBD1, TTR, OTC
38h2o24510.2CSN1S1, LBR, G6PD, QDPR, PCBD1, HBB
39lactate4510.2CSN1S1, HADHA, G6PD, BTD, HBB, TTR
40alanine4510.2CSN1S1, HADHA, HCRT, QDPR, BTD, HBB
41atp45 2911.2CSN1S1, HADHA, LBR, G6PD, HCRT, QDPR
42glutamine4510.2CSN1S1, HADHA, G6PD, HBB, TTR, TH
43cysteine4510.2HBB, BTD, LBR, CSN1S1, TTR, TH
44arginine4510.1HBB, BTD, LBR, CSN1S1, TTR, SLC7A5
45chloramphenicol45 2 1112.1ACADM, OTC, TH, HBB, LBR
46tyrosine4510.1CSN1S1, LBR, HCRT, QDPR, BTD, HBB
47phenylalanine4510.1GSTZ1, CSN1S1, LBR, QDPR, BTD, PCBD1
48serine4510.0CSN1S1, HADHA, LBR, G6PD, BTD, HBB
49gtp45 2911.0CSN1S1, QDPR, PCBD1, TH, PAH, PTS
50fatty acid459.8HADHA, BTD, HBB, OTC, ACADM, PAH

GO Terms for genes affiliated with Phenylketonuria

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phenylketonuria

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