PKU
MCID: PHN003
MIFTS: 83

Phenylketonuria (PKU) malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Fetal diseases categories

Summaries for Phenylketonuria

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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 based summary: Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to hyperphenylalaninemia and mental retardation, and has symptoms including aminoaciduria, aminoaciduria and hypopigmentation of hair. An important gene associated with Phenylketonuria is PAH (phenylalanine hydroxylase), and among its related pathways are phenylalanine degradation I and Phenylalanine metabolism. The compounds 7-biopterin and 6-biopterin have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and liver, and related mouse phenotypes are growth/size/body and behavior/neurological.

Disease Ontology:9 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (pah), rendering it nonfunctional.

Genetics Home Reference:22 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.

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

OMIM:46 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine... (261600) more...

Wikipedia:64 Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by homozygous... more...

GeneReviews summary for pku

Aliases & Classifications for Phenylketonuria

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Sources:
31LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 64Wikipedia, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 61UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 28ICD9CM, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Phenylketonuria, Aliases & Descriptions:

Name: Phenylketonuria 31 9 10 64 42 21 23 22 46 11 48 33
Phenylalanine Hydroxylase Deficiency 20 42 21 48 61
Pku 9 64 42 22 48
Phenylalanine Hydroxylase Deficiency Disease 64 22 61
Classical Phenylketonuria 64 48 61
Folling Disease 64 42 22
Pah Deficiency 20 22 48
Deficiency Disease, Phenylalanine Hydroxylase 64 22
Oligophrenia Phenylpyruvica 42 61
Maternal Phenylketonuria 9 48
Phenylketonurias 44 61
Carbamoyl-Phosphate Synthase I Deficiency Disease 61
Hyperphenylalaninemic Embryopathy 48
 
Maternal Hyperphenylalaninemia 48
Phenylketonuric Embryopathy 48
Phenylketonuria, Maternal 61
Phenylketonuria Classical 44
Phenylketonuria Maternal 44
Classic Phenylketonuria 48
F& 248;lling's Disease 9
Folling's Disease 22
Phenylalaninemia 9
Classical Pku 48
Maternal Pku 48
Classic Pku 48


Classifications:



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


External Ids:

Disease Ontology9 DOID:9281
OMIM46 261600
NCIt39 C81315
ICD9CM28 270.1
MESH via Orphanet35 D010661
ICD10 via Orphanet27 E70.0, E70.1
UMLS via Orphanet62 C0031485, C0085547, C0751434
ICD1026 E70.0

Related Diseases for Phenylketonuria

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

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia30.8SPR, PAH, PTS, QDPR
2mental retardation30.6PTS, QDPR, PAH
3obesity29.7PTS, HCRT, PDP1
4parkinson's disease29.6PAH, HCRT, SPR
5alzheimer's disease29.6PDP1, PTS, HCRT
6mild phenylketonuria10.5
7hypothyroidism10.5
8maple syrup urine disease10.4
9congenital hypothyroidism10.4
10cerebritis10.4
11galactosemia10.4
12dihydropteridine reductase deficiency10.3
13mild hyperphenylalaninemia10.3
14pick's disease10.3PTS
15blindness10.3
16gtp cyclohydrolase i deficiency10.2PTS, QDPR
17homocystinuria10.1
18vitamin b12 deficiency10.1
19tetrahydrobiopterin deficiency10.1
20maternal hyperphenylalaninemia10.1
21neonatal hypothyroidism10.1
22bh4-deficient hyperphenylalaninemia c10.1
23tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.1
24vitiligo10.1PAH, QDPR
25lactic acidosis10.1GSTZ1, PDP1
26hepatitis10.1
27leukemia10.1
28microcephaly10.1
29dementia10.1
30aminoacidopathies10.1
31precocious puberty10.1
32pyruvate kinase deficiency10.1
33spasticity10.1
34tyrosinemia10.0PTS, GSTZ1, PAH
35tetralogy of fallot10.0
36chondrodysplasia10.0
37attention deficit hyperactivity disorder9.9
38west syndrome9.9
39acute lymphoblastic leukemia9.9
40cystic fibrosis9.9
41cystinuria9.9
42glycogen storage disease9.9
43holoprosencephaly9.9
44pemphigus foliaceus9.9
45systemic scleroderma9.9
46tay-sachs disease9.9
47renal agenesis9.9
48hypophosphatasia9.9
49fabry disease9.9
50lesch-nyhan syndrome9.9

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to phenylketonuria

Symptoms for Phenylketonuria

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Symptoms by clinical synopsis from OMIM:

261600

Clinical features from OMIM:

261600

Symptoms:

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

HPO human phenotypes related to Phenylketonuria:

(show all 45)
id Description Frequency HPO Source Accession
1 aminoaciduria hallmark (90%) HP:0003355
2 aminoaciduria hallmark (90%) HP:0003355
3 hypopigmentation of hair hallmark (90%) HP:0005599
4 abnormal hair quantity hallmark (90%) HP:0011362
5 cognitive impairment typical (50%) HP:0100543
6 microcephaly typical (50%) HP:0000252
7 autism typical (50%) HP:0000717
8 eczema typical (50%) HP:0000964
9 seizures typical (50%) HP:0001250
10 hypertonia typical (50%) HP:0001276
11 tremor typical (50%) HP:0001337
12 hyperreflexia typical (50%) HP:0001347
13 nausea and vomiting typical (50%) HP:0002017
14 memory impairment typical (50%) HP:0002354
15 attention deficit hyperactivity disorder typical (50%) HP:0007018
16 malformation of the heart and great vessels occasional (7.5%) HP:0002564
17 cataract occasional (7.5%) HP:0000518
18 cerebral calcification occasional (7.5%) HP:0002514
19 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
20 lack of skin elasticity occasional (7.5%) HP:0100679
21 self-injurious behavior occasional (7.5%) HP:0100716
22 autosomal recessive inheritance HP:0000007
23 microcephaly HP:0000252
24 cataract HP:0000518
25 blue irides HP:0000635
26 psychosis HP:0000709
27 aggressive behavior HP:0000718
28 obsessive-compulsive behavior HP:0000722
29 irritability HP:0000737
30 anxiety HP:0000739
31 self-mutilation HP:0000742
32 dry skin HP:0000958
33 eczema HP:0000964
34 intellectual disability HP:0001249
35 seizures HP:0001250
36 hyperreflexia HP:0001347
37 fair hair HP:0002286
38 cerebral calcification HP:0002514
39 phenylpyruvic acidemia HP:0004920
40 hyperphenylalaninemia HP:0004923
41 reduced phenylalanine hydroxylase activity HP:0005982
42 attention deficit hyperactivity disorder HP:0007018
43 generalized hypopigmentation HP:0007513
44 scleroderma HP:0100324
45 maternal hyperphenylalaninemia HP:0100610

Drugs & Therapeutics for Phenylketonuria

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Drug clinical trials:

Search ClinicalTrials for Phenylketonuria

Search NIH Clinical Center 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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Genetic tests related to Phenylketonuria:

id Genetic test Affiliating Genes
1 Phenylalanine Hydroxylase Deficiency21 PAH
2 Phenylketonuria21 23

Anatomical Context for Phenylketonuria

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MalaCards organs/tissues related to Phenylketonuria:

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

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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MGI Mouse Phenotypes related to Phenylketonuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1SPR, HCRT, PTS, PAH, GSTZ1
2MP:00053867.4NIPSNAP1, PAH, PTS, HCRT, SPR
3MP:00053767.2PTS, SPR, PAH, GSTZ1, NIPSNAP1, HCRT

Publications for Phenylketonuria

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Articles related to Phenylketonuria:

(show top 50)    (show all 769)
idTitleAuthorsYear
1
Epilepsy and phenylketonuria: a case description and EEG-fMRI findings. (25014052)
2014
2
A Prospective Population Pharmacokinetic Analysis of Sapropterin Dihydrochloride in Infants and Young Children with Phenylketonuria. (25338975)
2014
3
A questionnaire survey on the usage of low protein staple foods by people with phenylketonuria in Scotland. (24387232)
2014
4
Impact of geographic access to care on compliance and metabolic control in phenylketonuria. (23177662)
2013
5
Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. (23573793)
2013
6
Unusual presentation of two Chinese phenylketonuria sisters who were misdiagnosed for years. (24068375)
2013
7
Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria. (24206933)
2013
8
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer. (23430494)
2013
9
Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. (23164313)
2013
10
Optimal serum phenylalanine for adult patients with phenylketonuria. (24094552)
2013
11
Children with phenylketonuria treated early: basic audiological and electrophysiological evaluation. (23038064)
2013
12
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
13
Breastfeeding follow-up in the treatment of children with phenylketonuria. (23306691)
2012
14
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? (23430918)
2012
15
Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI. (22231384)
2012
16
Processing speed and executive abilities in children with phenylketonuria. (22866986)
2012
17
Bone metabolism and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria. (20706750)
2011
18
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. (20123475)
2010
19
Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria. (19996619)
2010
20
Finding the fertile woman with phenylketonuria. (18262326)
2008
21
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. (17221866)
2007
22
Tetrahydrobiopterin for patients with phenylketonuria. (17693159)
2007
23
Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. (18046700)
2007
24
Phenylketonuria--the lived experience. (17891216)
2007
25
A neuropsychological profile of off-diet adults with phenylketonuria. (17497567)
2007
26
A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. (16483397)
2006
27
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. (15811181)
2005
28
Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU). (15925112)
2005
29
Increased plasma adiponectin concentrations in poorly controlled patients with phenylketonuria normalize with a strict diet: evidence for catecholamine-mediated adiponectin regulation and a complex effect of phenylketonuria diet on atherogenesis risk factors. (16154435)
2005
30
Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria. (16165388)
2005
31
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. (14654659)
2003
32
High levels of orexin A in the brain of the mouse model for phenylketonuria: possible role of orexin A in hyperactivity seen in children with PKU. (14649732)
2003
33
Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
2002
34
The impact of phenylketonuria on folate metabolism. (12208135)
2002
35
Treatable neurotransmitter deficiency in mild phenylketonuria. (11552030)
2001
36
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations. (9686365)
1998
37
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. (9452061)
1998
38
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. (9406548)
1997
39
Phenylketonuria with familial hyperglycinuria. (7837780)
1994
40
Gene therapy for phenylketonuria. (7766948)
1994
41
Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia. (8116675)
1994
42
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. (1301947)
1992
43
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. (1769645)
1991
44
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. (2246858)
1990
45
Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. (2740145)
1989
46
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
47
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. (2615649)
1989
48
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals. (7106768)
1982
49
Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. (732826)
1978
50
A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria. (848858)
1977

Variations for Phenylketonuria

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UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

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

Clinvar genetic disease variations for Phenylketonuria:

7 (show all 90)
id Gene Name Type Significance SNP ID Assembly Location
1PAHNM_000277.1(PAH): c.1004A> C (p.Lys335Thr)single nucleotide variantLikely pathogenicrs281865434GRCh38Chr 12, 102844397: 102844397
2PAHNM_000277.1(PAH): c.1066-2A> Tsingle nucleotide variantLikely pathogenicrs281865447GRCh38Chr 12, 102843781: 102843781
3PAHNM_000277.1(PAH): c.1163T> C (p.Val388Ala)single nucleotide variantLikely pathogenicrs281865435GRCh38Chr 12, 102843682: 102843682
4PAHNM_000277.1(PAH): c.1171A> G (p.Ser391Gly)single nucleotide variantLikely pathogenicrs281865453GRCh37Chr 12, 103237452: 103237452
5PAHNM_000277.1(PAH): c.1180G> T (p.Asp394Tyr)single nucleotide variantLikely pathogenicrs62516142GRCh38Chr 12, 102843665: 102843665
6PAHNM_000277.1(PAH): c.1196T> C (p.Val399Ala)single nucleotide variantLikely pathogenicrs281865436GRCh37Chr 12, 103237427: 103237427
7PAHNM_000277.1(PAH): c.1240T> C (p.Tyr414His)single nucleotide variantLikely pathogenicrs281865437GRCh38Chr 12, 102840475: 102840475
8PAHNM_000277.1(PAH): c.164T> C (p.Phe55Ser)single nucleotide variantLikely pathogenicrs281865438GRCh37Chr 12, 103306573: 103306573
9PAHNM_000277.1(PAH): c.169G> T (p.Glu57Ter)single nucleotide variantLikely pathogenicrs140945592GRCh37Chr 12, 103288696: 103288696
10PAHNM_000277.1(PAH): c.183C> A (p.Asn61Lys)single nucleotide variantLikely pathogenicrs199475634GRCh38Chr 12, 102894904: 102894904
11PAHNM_000277.1(PAH): c.196G> T (p.Glu66Ter)single nucleotide variantLikely pathogenicrs281865454GRCh37Chr 12, 103288669: 103288669
12PAHNM_000277.1(PAH): c.205_210dupCCTTCT (p.Ser70_Arg71insProSer)duplicationLikely pathogenicrs281865431GRCh38Chr 12, 102894877: 102894882
13PAHNM_000277.1(PAH): c.284_285delTCinsCA (p.Ile95Thr)indelLikely pathogenicrs281865432GRCh37Chr 12, 103288579: 103288581
14PAHNM_000277.1(PAH): c.350C> T (p.Thr117Ile)single nucleotide variantLikely pathogenicrs281865439GRCh37Chr 12, 103288515: 103288515
15PAHNM_000277.1(PAH): c.350delC (p.Thr117Lysfs)deletionLikely pathogenicrs281865428GRCh38Chr 12, 102894737: 102894737
16PAHNM_000277.1(PAH): c.441+6T> Asingle nucleotide variantLikely pathogenicrs199475698GRCh37Chr 12, 103271234: 103271234
17PAHNM_000277.1(PAH): c.442-2A> Csingle nucleotide variantLikely pathogenicrs281865448GRCh37Chr 12, 103260443: 103260443
18PAHNM_000277.1(PAH): c.504C> A (p.Tyr168Ter)single nucleotide variantLikely pathogenicrs281865455GRCh38Chr 12, 102866601: 102866601
19PAHNM_000277.1(PAH): c.547_548delGAinsTT (p.Glu183Leu)indelLikely pathogenicrs281865433GRCh37Chr 12, 103249071: 103249073
20PAHNM_000277.1(PAH): c.568G> A (p.Val190Met)single nucleotide variantLikely pathogenicrs281865441GRCh38Chr 12, 102855274: 102855274
21PAHNM_000277.1(PAH): c.591G> C (p.Leu197Phe)single nucleotide variantLikely pathogenicrs281865442GRCh38Chr 12, 102855251: 102855251
22PAHNM_000277.1(PAH): c.60+5G> Asingle nucleotide variantLikely pathogenicrs62514895GRCh38Chr 12, 102917066: 102917066
23PAHNM_000277.1(PAH): c.632C> T (p.Pro211Leu)single nucleotide variantLikely pathogenicrs281865443GRCh38Chr 12, 102855210: 102855210
24PAHNM_000277.1(PAH): c.682G> A (p.Glu228Lys)single nucleotide variantLikely pathogenicrs281865444GRCh38Chr 12, 102855160: 102855160
25PAHNM_000277.1(PAH): c.785T> G (p.Val262Gly)single nucleotide variantLikely pathogenicrs281865445GRCh37Chr 12, 103246650: 103246650
26PAHNM_000277.1(PAH): c.796A> C (p.Thr266Pro)single nucleotide variantLikely pathogenicrs62508752GRCh38Chr 12, 102852861: 102852861
27PAHNM_000277.1(PAH): c.812A> T (p.His271Leu)single nucleotide variantLikely pathogenicrs199475692GRCh37Chr 12, 103246623: 103246623
28PAHNM_000277.1(PAH): c.837delC (p.Glu280Asnfs)deletionLikely pathogenicrs281865429GRCh38Chr 12, 102852820: 102852820
29PAHNM_000277.1(PAH): c.841C> G (p.Pro281Ala)single nucleotide variantLikely pathogenicrs199475654GRCh37Chr 12, 103246594: 103246594
30PAHNM_000277.1(PAH): c.869A> T (p.His290Leu)single nucleotide variantLikely pathogenicrs62642919GRCh38Chr 12, 102851730: 102851730
31PAHNM_000277.1(PAH): c.887A> G (p.Asp296Gly)single nucleotide variantLikely pathogenicrs281865446GRCh38Chr 12, 102851712: 102851712
32PAHNM_000277.1(PAH): c.912+2T> Csingle nucleotide variantLikely pathogenicrs281865449GRCh37Chr 12, 103245463: 103245463
33PAHNM_000277.1(PAH): c.912+3A> Csingle nucleotide variantLikely pathogenicrs281865450GRCh38Chr 12, 102851684: 102851684
34PAHNM_000277.1(PAH): c.913-3C> Gsingle nucleotide variantLikely pathogenicrs281865451GRCh37Chr 12, 103240732: 103240732
35PAHNM_000277.1(PAH): c.913-8A> Gsingle nucleotide variantLikely pathogenicrs281865452GRCh37Chr 12, 103240737: 103240737
36PAHNM_000277.1(PAH): c.916delA (p.Ile306Leufs)deletionLikely pathogenicrs281865456GRCh38Chr 12, 102846948: 102846948
37PAHNM_000277.1(PAH): c.931_932delCT (p.Leu311Glyfs)deletionLikely pathogenicrs281865430GRCh38Chr 12, 102846932: 102846933
38PAHNM_000277.1(PAH): c.970-1G> Asingle nucleotide variantLikely pathogenicrs202183605GRCh38Chr 12, 102844432: 102844432
39PAHNM_000277.1(PAH): c.505C> T (p.Arg169Cys)single nucleotide variantLikely pathogenicrs281865440GRCh38Chr 12, 102866600: 102866600
40PAHNM_000277.1(PAH): c.781C> G (p.Arg261Gly)single nucleotide variantLikely pathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
41PAHPAH, IVS12DS, G-A, +1single nucleotide variantPathogenic
42PAHNM_000277.1(PAH): c.1222C> T (p.Arg408Trp)single nucleotide variantPathogenicrs5030858GRCh37Chr 12, 103234271: 103234271
43PAHNM_000277.1(PAH): c.932T> C (p.Leu311Pro)single nucleotide variantPathogenicrs62642936GRCh37Chr 12, 103240710: 103240710
44PAHNM_000277.1(PAH): c.977G> A (p.Trp326Ter)single nucleotide variantPathogenicrs62514959GRCh37Chr 12, 103238202: 103238202
45PAHNM_000277.1(PAH): c.838G> A (p.Glu280Lys)single nucleotide variantPathogenicrs62508698GRCh37Chr 12, 103246597: 103246597
46PAHNM_000277.1(PAH): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs76296470GRCh37Chr 12, 103288534: 103288534
47PAHNM_000277.1(PAH): c.782G> A (p.Arg261Gln)single nucleotide variantPathogenicrs5030849GRCh37Chr 12, 103246653: 103246653
48PAHNM_000277.1(PAH): c.754C> T (p.Arg252Trp)single nucleotide variantPathogenicrs5030847GRCh37Chr 12, 103246681: 103246681
49PAHPAH, EX3DELdeletionPathogenic
50PAHNM_000277.1(PAH): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs62514891GRCh37Chr 12, 103310908: 103310908
51PAHNM_000277.1(PAH): c.473G> A (p.Arg158Gln)single nucleotide variantPathogenicrs5030843GRCh37Chr 12, 103260410: 103260410
52PAHNM_000277.1(PAH): c.727C> T (p.Arg243Ter)single nucleotide variantPathogenicrs5030846GRCh37Chr 12, 103246708: 103246708
53PAHNM_000277.1(PAH): c.842C> T (p.Pro281Leu)single nucleotide variantPathogenicrs5030851GRCh37Chr 12, 103246593: 103246593
54PAHNM_000277.1(PAH): c.611A> G (p.Tyr204Cys)single nucleotide variantPathogenicrs62514927GRCh37Chr 12, 103249009: 103249009
55PAHNM_000277.1(PAH): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs62508588GRCh37Chr 12, 103246707: 103246707
56PAHNM_000277.1(PAH): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenicrs79931499GRCh37Chr 12, 103234255: 103234255
57PAHPAH, IVS4AS, G-A, -1single nucleotide variantPathogenic
58PAHNM_000277.1(PAH): c.1068C> G (p.Tyr356Ter)single nucleotide variantPathogenicrs62516095GRCh37Chr 12, 103237555: 103237555
59PAHNM_000277.1(PAH): c.814G> T (p.Gly272Ter)single nucleotide variantPathogenicrs62514952GRCh37Chr 12, 103246621: 103246621
60PAHPAH, 3-BP DEL, CTTdeletionPathogenic
61PAHNM_000277.1(PAH): c.818C> T (p.Ser273Phe)single nucleotide variantPathogenicrs62514953GRCh37Chr 12, 103246617: 103246617
62PAHPAH, IVS7DS, G-A, +1single nucleotide variantPathogenic
63PAHNM_000277.1(PAH): c.764T> C (p.Leu255Ser)single nucleotide variantPathogenicrs62642930GRCh37Chr 12, 103246671: 103246671
64PAHPAH, 1197A-Tsingle nucleotide variantPathogenic
65PAHNM_000277.1(PAH): c.776C> T (p.Ala259Val)single nucleotide variantPathogenicrs118203921GRCh37Chr 12, 103246659: 103246659
66PAHNM_000277.1(PAH): c.829T> G (p.Tyr277Asp)single nucleotide variantPathogenicrs78655458GRCh37Chr 12, 103246606: 103246606
67PAHPAH, 3-BP DEL, ATCdeletionPathogenic
68PAHNM_000277.1(PAH): c.117C> G (p.Phe39Leu)single nucleotide variantPathogenicrs62642926GRCh37Chr 12, 103306620: 103306620
69PAHPAH, SER349ARGundetermined variantPathogenic
70PAHPAH, IVS10AS, G-A, -11single nucleotide variantPathogenic
71PAHNM_000277.1(PAH): c.143T> C (p.Leu48Ser)single nucleotide variantPathogenicrs5030841GRCh37Chr 12, 103306594: 103306594
72PAHNM_000277.1(PAH): c.662A> G (p.Glu221Gly)single nucleotide variantPathogenicrs62514934GRCh37Chr 12, 103248958: 103248958
73PAHNM_000277.1(PAH): c.781C> T (p.Arg261Ter)single nucleotide variantPathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
74PAHPAH, 1-BP DEL, CODON 55deletionPathogenic
75PAHNM_000277.1(PAH): c.1223G> A (p.Arg408Gln)single nucleotide variantPathogenicrs5030859GRCh37Chr 12, 103234270: 103234270
76PAHNM_000277.1(PAH): c.896T> G (p.Phe299Cys)single nucleotide variantPathogenicrs62642933GRCh37Chr 12, 103245481: 103245481
77PAHPAH, IVS7DS, T-A, +2single nucleotide variantPathogenic
78PAHNM_000277.1(PAH): c.1045T> C (p.Ser349Pro)single nucleotide variantPathogenicrs62508646GRCh37Chr 12, 103238134: 103238134
79PAHNM_000277.1(PAH): c.1162G> A (p.Val388Met)single nucleotide variantPathogenicrs62516101GRCh37Chr 12, 103237461: 103237461
80PAHPAH, 15-BP DEL, EX11deletionPathogenic
81PAHNM_000277.1(PAH): c.731C> T (p.Pro244Leu)single nucleotide variantPathogenicrs118203923GRCh37Chr 12, 103246704: 103246704
82PAHNM_000277.1(PAH): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs62514893GRCh37Chr 12, 103310906: 103310906
83PAHPAH, IVS10AS, C-T, -3single nucleotide variantPathogenic
84PAHNM_000277.1(PAH): c.1169A> G (p.Glu390Gly)single nucleotide variantPathogenicrs5030856GRCh37Chr 12, 103237454: 103237454
85PAHNM_000277.1(PAH): c.1076C> G (p.Ser359Ter)single nucleotide variantPathogenicrs5030854GRCh37Chr 12, 103237547: 103237547
86PAHNM_000277.1(PAH): c.136G> A (p.Gly46Ser)single nucleotide variantPathogenicrs74603784GRCh37Chr 12, 103306601: 103306601
87PAHPAH, 1-BP DEL, 1129TdeletionPathogenic
88PAHNM_000277.1(PAH): c.1220C> T (p.Pro407Leu)single nucleotide variantPathogenicrs62644473GRCh37Chr 12, 103234273: 103234273
89PAHNM_000277.1(PAH): c.194T> C (p.Ile65Thr)single nucleotide variantPathogenicrs75193786GRCh37Chr 12, 103288671: 103288671
90PAHPAH, EX9-11DELdeletionPathogenic

Expression for genes affiliated with Phenylketonuria

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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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Pathways related to Phenylketonuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV37
tetrahydrobiopterin salvage37
9.8PAH, QDPR
2
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.7PAH, GSTZ1
3
Show member pathways
9.4SPR, PTS
4
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
9.3QDPR, GSTZ1, PAH
59.0QDPR, SPR, PTS
6
Show member pathways
7.7PTS, PAH, PDP1, GSTZ1, QDPR, SPR

Compounds for genes affiliated with Phenylketonuria

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Compounds related to Phenylketonuria according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
17-biopterin4410.1QDPR, PAH
26-biopterin4410.1QDPR, PAH
35-hydroxytryptophan449.9QDPR, PTS
4dichloroacetate449.8GSTZ1, PDP1
5Dyspropterin259.8PTS, SPR
6dihydroneopterin triphosphate44 2510.7PTS, SPR
7neopterin449.7QDPR, PAH, PTS
8levodopa44 1210.6QDPR, PAH, PTS
9amine449.6PTS, PAH, QDPR
10sulfate44 2510.6GSTZ1, PTS
11nad+449.6PDP1, QDPR
12asparagine449.6PTS, PAH
13Sapropterin259.5QDPR, PAH, SPR
14dihydrobiopterin44 2510.5SPR, PAH, QDPR
15dihydrofolate449.5SPR, PAH, QDPR
166-pyruvoyltetrahydropterin449.4SPR, PTS, QDPR
17pteridine449.4QDPR, PTS, SPR
18lysine449.4QDPR, PAH, PTS
19h2o2449.4PTS, PAH, QDPR
20melatonin44 29 60 25 1213.3SPR, HCRT, PAH
21epinephrine44 25 1211.3PDP1, PAH, HCRT
22acetylcholine44 50 29 25 1213.2QDPR, PDP1, HCRT
23catecholamine449.2QDPR, PAH, PTS, HCRT
24dihydropteridine44 2510.1QDPR, PAH, PTS, SPR
25sepiapterin44 2510.1SPR, PTS, PAH, QDPR
26pterin44 2510.1SPR, PTS, PAH, QDPR
27hydrogen44 2510.1PTS, PAH, PDP1, QDPR
28tetrahydrobiopterin44 25 1211.1QDPR, PAH, PTS, SPR
29threonine449.0QDPR, PDP1, PAH, PTS
30gtp44 2910.0QDPR, PAH, PTS, SPR
31norepinephrine44 25 1211.0SPR, HCRT, PAH, QDPR
32alanine449.0HCRT, PAH, PDP1, QDPR
33oligonucleotide448.9PAH, PTS, HCRT
34nadph44 259.8SPR, PTS, PDP1, QDPR
35atp44 299.8HCRT, PTS, PDP1, QDPR
36nitric oxide44 25 1210.8SPR, HCRT, PTS, PAH
37phenylalanine448.7SPR, PTS, PAH, GSTZ1, QDPR
38dopamine44 29 25 1211.5SPR, HCRT, PTS, PAH, QDPR
39calcium44 50 25 1211.4HCRT, PTS, PAH, PDP1, QDPR
40tyrosine447.6SPR, HCRT, PTS, PAH, PDP1, GSTZ1

GO Terms for genes affiliated with Phenylketonuria

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Cellular components related to Phenylketonuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.3QDPR, GSTZ1, PAH, PTS, SPR
2mitochondrionGO:0057398.1QDPR, NIPSNAP1, GSTZ1, PTS

Biological processes related to Phenylketonuria according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:0065209.6PTS, QDPR
2L-phenylalanine catabolic processGO:0065599.5QDPR, GSTZ1, PAH
3cellular nitrogen compound metabolic processGO:0346419.3GSTZ1, QDPR, PAH
4nitric oxide metabolic processGO:0462099.3SPR, PTS
5tetrahydrobiopterin biosynthetic processGO:0067299.2PTS, QDPR, SPR
6regulation of nitric-oxide synthase activityGO:0509999.1PTS, SPR
7small molecule metabolic processGO:0442817.8GSTZ1, PDP1, PAH, SPR, PTS, QDPR

Molecular functions related to Phenylketonuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.2QDPR, GSTZ1, PTS

Products for genes affiliated with Phenylketonuria

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  • Antibodies
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Sources for Phenylketonuria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet