PKU
MCID: PHN003
MIFTS: 82

Phenylketonuria (PKU) malady

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

Summaries for Phenylketonuria

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9Disease Ontology, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 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 mental retardation, and has symptoms including hyperactivity/attention deficit, autism/autistic disoders and decreased hair pigmentation/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.

NIH Rare Diseases:44 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

Wikipedia:66 Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by homozygous... more...

Description from OMIM:48 261600

GeneReviews summary for pku

Aliases & Classifications for Phenylketonuria

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Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 35MedlinePlus, 32LifeMap Discovery™, 63UMLS, 20GeneReviews, 46Novoseek, 41NCIt, 28ICD9CM, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet, 26ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 9 10 66 44 21 23 22 48 11 50 35 32
pku 9 66 44 22 50
phenylalanine hydroxylase deficiency 20 44 21 50
classical phenylketonuria 66 50 63
folling disease 66 44 22
pah deficiency 20 22 50
deficiency disease, phenylalanine hydroxylase 66 22
phenylalanine hydroxylase deficiency disease 66 22
maternal phenylketonuria 9 50
phenylketonurias 46 63
carbamoyl-phosphate synthase i deficiency disease 63
hyperphenylalaninemic embryopathy 50
maternal hyperphenylalaninemia 50
phenylketonuric embryopathy 50
oligophrenia phenylpyruvica 44
phenylketonuria, maternal 63
phenylketonuria classical 46
phenylketonuria maternal 46
classic phenylketonuria 50
f& 248;lling's disease 9
folling's disease 22
phenylalaninemia 9
classical pku 50
maternal pku 50
classic pku 50


External Ids:

Disease Ontology9 DOID:9281
NCIt41 C81315
ICD9CM28 270.1
OMIM48 261600
MESH via Orphanet37 D010661
ICD10 via Orphanet27 E70.0, E70.1, P00.8
UMLS via Orphanet64 C0031485, C0085547, C0751434
SNOMED-CT via Orphanet60 297225000, 7573000
ICD1026 E70.0

Related Diseases for Phenylketonuria

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Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia31.0SPR, PAH, PTS, QDPR
2mental retardation30.5PTS, QDPR, PAH
3obesity30.1PTS, HCRT, PDP1
4parkinson's disease29.8PAH, HCRT, SPR
5alzheimer's disease29.8PDP1, PTS, HCRT
6mild phenylketonuria10.5
7hypothyroidism10.5
8maple syrup urine disease10.4
9congenital hypothyroidism10.4
10cerebritis10.4
11galactosemia10.3
12mild hyperphenylalaninemia10.3
13dihydropteridine reductase deficiency10.3
14blindness10.2
15tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
16homocystinuria10.1
17vitamin b12 deficiency10.1
18tetrahydrobiopterin deficiency10.1
19maternal hyperphenylalaninemia10.1
20neonatal hypothyroidism10.1
21bh4-deficient hyperphenylalaninemia c10.1
22pick's disease10.1PTS
23microcephaly10.0
24hepatitis10.0
25leukemia10.0
26aminoacidopathies10.0
27pyruvate kinase deficiency10.0
28spasticity10.0
29gtp cyclohydrolase i deficiency10.0PTS, QDPR
30vitiligo10.0PAH, QDPR
31lactic acidosis10.0GSTZ1, PDP1
32tyrosinemia10.0PTS, GSTZ1, PAH
33tetralogy of fallot10.0
34chondrodysplasia10.0
35attention deficit hyperactivity disorder9.9
36lesch-nyhan syndrome9.9
37angelman syndrome9.9
38cystic fibrosis9.9
39eosinophilia-myalgia syndrome9.9
40congenital adrenal hyperplasia9.9
41fanconi syndrome9.9
42pemphigus9.9
43neuronitis9.9
44cystinuria9.9
45glycine encephalopathy9.9
46agoraphobia9.9
47rickets9.9
48cortical blindness9.9
49double outlet right ventricle9.9
50biotinidase deficiency9.9

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to phenylketonuria

Symptoms for Phenylketonuria

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

261600

Clinical features from OMIM:

261600

Symptoms:

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

Drugs & Therapeutics for Phenylketonuria

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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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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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Phenylketonuria:

34
Testes, Brain, Liver, Bone, Skin, Cortex, Prefrontal cortex, Heart, 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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38MGI
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MGI Mouse Phenotypes related to Phenylketonuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1GSTZ1, PAH, PTS, HCRT, SPR
2MP:00053867.4SPR, HCRT, PTS, PAH, NIPSNAP1
3MP:00053767.2NIPSNAP1, GSTZ1, PAH, PTS, HCRT, SPR

Publications for Phenylketonuria

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Sources:
53PubMed
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Articles related to Phenylketonuria:

(show top 50)    (show all 745)
idTitleAuthorsYear
1
A questionnaire survey on the usage of low protein staple foods by people with phenylketonuria in Scotland. (24387232)
2014
2
Impact of geographic access to care on compliance and metabolic control in phenylketonuria. (23177662)
2013
3
Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. (23573793)
2013
4
Unusual presentation of two Chinese phenylketonuria sisters who were misdiagnosed for years. (24068375)
2013
5
Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria. (24206933)
2013
6
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer. (23430494)
2013
7
Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. (23164313)
2013
8
Optimal serum phenylalanine for adult patients with phenylketonuria. (24094552)
2013
9
Children with phenylketonuria treated early: basic audiological and electrophysiological evaluation. (23038064)
2013
10
Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? (24051226)
2013
11
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
12
Breastfeeding follow-up in the treatment of children with phenylketonuria. (23306691)
2012
13
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? (23430918)
2012
14
Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI. (22231384)
2012
15
Processing speed and executive abilities in children with phenylketonuria. (22866986)
2012
16
Bone metabolism and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria. (20706750)
2011
17
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. (20123475)
2010
18
Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria. (19996619)
2010
19
Finding the fertile woman with phenylketonuria. (18262326)
2008
20
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. (17221866)
2007
21
Tetrahydrobiopterin for patients with phenylketonuria. (17693159)
2007
22
Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. (18046700)
2007
23
Phenylketonuria--the lived experience. (17891216)
2007
24
Normal-appearing white matter in patients with phenylketonuria: water content, myelin water fraction, and metabolite concentrations. (17185670)
2007
25
A neuropsychological profile of off-diet adults with phenylketonuria. (17497567)
2007
26
Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. (17968763)
2007
27
A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. (16483397)
2006
28
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. (15811181)
2005
29
Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU). (15925112)
2005
30
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
31
Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria. (16165388)
2005
32
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. (14654659)
2003
33
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
34
Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
2002
35
The impact of phenylketonuria on folate metabolism. (12208135)
2002
36
Treatable neurotransmitter deficiency in mild phenylketonuria. (11552030)
2001
37
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations. (9686365)
1998
38
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. (9452061)
1998
39
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. (9406548)
1997
40
Phenylketonuria with familial hyperglycinuria. (7837780)
1994
41
Gene therapy for phenylketonuria. (7766948)
1994
42
Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia. (8116675)
1994
43
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. (1301947)
1992
44
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. (1769645)
1991
45
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. (2246858)
1990
46
Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. (2740145)
1989
47
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

65 (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

Clinvar genetic disease variations for Phenylketonuria:

1 (show all 50)
id Gene Name Type Significance SNP ID Assembly Location
1PAHPAH, IVS12DS, G-A, +1single nucleotide variantPathogenic
2PAHNM_000277.1(PAH): c.1222C> T (p.Arg408Trp)single nucleotide variantPathogenicrs5030858GRCh37Chr 12, 103234271: 103234271
3PAHNM_000277.1(PAH): c.932T> C (p.Leu311Pro)single nucleotide variantPathogenicrs62642936GRCh37Chr 12, 103240710: 103240710
4PAHNM_000277.1(PAH): c.977G> A (p.Trp326Ter)single nucleotide variantPathogenicrs62514959GRCh37Chr 12, 103238202: 103238202
5PAHNM_000277.1(PAH): c.838G> A (p.Glu280Lys)single nucleotide variantPathogenicrs62508698GRCh37Chr 12, 103246597: 103246597
6PAHNM_000277.1(PAH): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs76296470GRCh37Chr 12, 103288534: 103288534
7PAHNM_000277.1(PAH): c.782G> A (p.Arg261Gln)single nucleotide variantPathogenicrs5030849GRCh37Chr 12, 103246653: 103246653
8PAHNM_000277.1(PAH): c.754C> T (p.Arg252Trp)single nucleotide variantPathogenicrs5030847GRCh37Chr 12, 103246681: 103246681
9PAHPAH, EX3DELdeletionPathogenic
10PAHNM_000277.1(PAH): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs62514891GRCh37Chr 12, 103310908: 103310908
11PAHNM_000277.1(PAH): c.473G> A (p.Arg158Gln)single nucleotide variantPathogenicrs5030843GRCh37Chr 12, 103260410: 103260410
12PAHNM_000277.1(PAH): c.727C> T (p.Arg243Ter)single nucleotide variantPathogenicrs5030846GRCh37Chr 12, 103246708: 103246708
13PAHNM_000277.1(PAH): c.842C> T (p.Pro281Leu)single nucleotide variantPathogenicrs5030851GRCh37Chr 12, 103246593: 103246593
14PAHNM_000277.1(PAH): c.611A> G (p.Tyr204Cys)single nucleotide variantPathogenicrs62514927GRCh37Chr 12, 103249009: 103249009
15PAHNM_000277.1(PAH): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs62508588GRCh37Chr 12, 103246707: 103246707
16PAHNM_000277.1(PAH): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenicrs79931499GRCh37Chr 12, 103234255: 103234255
17PAHPAH, IVS4AS, G-A, -1single nucleotide variantPathogenic
18PAHNM_000277.1(PAH): c.1068C> G (p.Tyr356Ter)single nucleotide variantPathogenicrs62516095GRCh37Chr 12, 103237555: 103237555
19PAHNM_000277.1(PAH): c.814G> T (p.Gly272Ter)single nucleotide variantPathogenicrs62514952GRCh37Chr 12, 103246621: 103246621
20PAHPAH, 3-BP DEL, CTTdeletionPathogenic
21PAHNM_000277.1(PAH): c.818C> T (p.Ser273Phe)single nucleotide variantPathogenicrs62514953GRCh37Chr 12, 103246617: 103246617
22PAHPAH, IVS7DS, G-A, +1single nucleotide variantPathogenic
23PAHNM_000277.1(PAH): c.764T> C (p.Leu255Ser)single nucleotide variantPathogenicrs62642930GRCh37Chr 12, 103246671: 103246671
24PAHPAH, 1197A-Tsingle nucleotide variantPathogenic
25PAHNM_000277.1(PAH): c.776C> T (p.Ala259Val)single nucleotide variantPathogenicrs118203921GRCh37Chr 12, 103246659: 103246659
26PAHNM_000277.1(PAH): c.829T> G (p.Tyr277Asp)single nucleotide variantPathogenicrs78655458GRCh37Chr 12, 103246606: 103246606
27PAHPAH, 3-BP DEL, ATCdeletionPathogenic
28PAHNM_000277.1(PAH): c.117C> G (p.Phe39Leu)single nucleotide variantPathogenicrs62642926GRCh37Chr 12, 103306620: 103306620
29PAHPAH, SER349ARGundetermined variantPathogenic
30PAHPAH, IVS10AS, G-A, -11single nucleotide variantPathogenic
31PAHNM_000277.1(PAH): c.143T> C (p.Leu48Ser)single nucleotide variantPathogenicrs5030841GRCh37Chr 12, 103306594: 103306594
32PAHNM_000277.1(PAH): c.662A> G (p.Glu221Gly)single nucleotide variantPathogenicrs62514934GRCh37Chr 12, 103248958: 103248958
33PAHNM_000277.1(PAH): c.781C> T (p.Arg261Ter)single nucleotide variantPathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
34PAHPAH, 1-BP DEL, CODON 55deletionPathogenic
35PAHNM_000277.1(PAH): c.1223G> A (p.Arg408Gln)single nucleotide variantPathogenicrs5030859GRCh37Chr 12, 103234270: 103234270
36PAHNM_000277.1(PAH): c.896T> G (p.Phe299Cys)single nucleotide variantPathogenicrs62642933GRCh37Chr 12, 103245481: 103245481
37PAHPAH, IVS7DS, T-A, +2single nucleotide variantPathogenic
38PAHNM_000277.1(PAH): c.1045T> C (p.Ser349Pro)single nucleotide variantPathogenicrs62508646GRCh37Chr 12, 103238134: 103238134
39PAHNM_000277.1(PAH): c.1162G> A (p.Val388Met)single nucleotide variantPathogenicrs62516101GRCh37Chr 12, 103237461: 103237461
40PAHPAH, 15-BP DEL, EX11deletionPathogenic
41PAHNM_000277.1(PAH): c.731C> T (p.Pro244Leu)single nucleotide variantPathogenicrs118203923GRCh37Chr 12, 103246704: 103246704
42PAHNM_000277.1(PAH): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs62514893GRCh37Chr 12, 103310906: 103310906
43PAHPAH, IVS10AS, C-T, -3single nucleotide variantPathogenic
44PAHNM_000277.1(PAH): c.1169A> G (p.Glu390Gly)single nucleotide variantPathogenicrs5030856GRCh37Chr 12, 103237454: 103237454
45PAHNM_000277.1(PAH): c.1076C> G (p.Ser359Ter)single nucleotide variantPathogenicrs5030854GRCh37Chr 12, 103237547: 103237547
46PAHNM_000277.1(PAH): c.136G> A (p.Gly46Ser)single nucleotide variantPathogenicrs74603784GRCh37Chr 12, 103306601: 103306601
47PAHPAH, 1-BP DEL, 1129TdeletionPathogenic
48PAHNM_000277.1(PAH): c.1220C> T (p.Pro407Leu)single nucleotide variantPathogenicrs62644473GRCh37Chr 12, 103234273: 103234273
49PAHNM_000277.1(PAH): c.194T> C (p.Ile65Thr)single nucleotide variantPathogenicrs75193786GRCh37Chr 12, 103288671: 103288671
50PAHPAH, EX9-11DELdeletionPathogenic

Expression for genes affiliated with Phenylketonuria

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome
See all sources

Pathways related to Phenylketonuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV39
tetrahydrobiopterin salvage39
9.8QDPR, PAH
2
Show member pathways
phenylalanine utilization39
noradrenaline and adrenaline degradation39
phenylalanine degradation IV39
9.7GSTZ1, PAH
3
Show member pathways
9.4PTS, SPR
4
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.3PAH, GSTZ1, QDPR
59.0QDPR, PTS, SPR
6
Show member pathways
7.7SPR, PTS, PAH, PDP1, GSTZ1, QDPR

Compounds for genes affiliated with Phenylketonuria

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB
See all sources

Compounds related to Phenylketonuria according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
17-biopterin4610.1QDPR, PAH
26-biopterin4610.1QDPR, PAH
35-hydroxytryptophan469.9QDPR, PTS
4dichloroacetate469.8GSTZ1, PDP1
5Dyspropterin259.8PTS, SPR
6dihydroneopterin triphosphate46 2510.7PTS, SPR
7neopterin469.7QDPR, PAH, PTS
8levodopa46 1210.6QDPR, PAH, PTS
9amine469.6PTS, PAH, QDPR
10sulfate46 2510.6GSTZ1, PTS
11nad+469.6PDP1, QDPR
12asparagine469.6PTS, PAH
13Sapropterin259.5QDPR, PAH, SPR
14dihydrobiopterin46 2510.5SPR, PAH, QDPR
15dihydrofolate469.5SPR, PAH, QDPR
166-pyruvoyltetrahydropterin469.4SPR, PTS, QDPR
17pteridine469.4QDPR, PTS, SPR
18lysine469.4QDPR, PAH, PTS
19h2o2469.4PTS, PAH, QDPR
20melatonin46 30 62 25 1213.3SPR, HCRT, PAH
21epinephrine46 25 1211.3PDP1, PAH, HCRT
22acetylcholine46 52 30 25 1213.2QDPR, PDP1, HCRT
23catecholamine469.2QDPR, PAH, PTS, HCRT
24dihydropteridine46 2510.1QDPR, PAH, PTS, SPR
25sepiapterin46 2510.1SPR, PTS, PAH, QDPR
26pterin46 2510.1SPR, PTS, PAH, QDPR
27hydrogen46 2510.1PTS, PAH, PDP1, QDPR
28tetrahydrobiopterin46 25 1211.1QDPR, PAH, PTS, SPR
29threonine469.0QDPR, PDP1, PAH, PTS
30gtp46 3010.0QDPR, PAH, PTS, SPR
31norepinephrine46 25 1211.0SPR, HCRT, PAH, QDPR
32alanine469.0HCRT, PAH, PDP1, QDPR
33oligonucleotide468.9PAH, PTS, HCRT
34nadph46 259.8SPR, PTS, PDP1, QDPR
35atp46 309.8HCRT, PTS, PDP1, QDPR
36nitric oxide46 25 1210.8SPR, HCRT, PTS, PAH
37phenylalanine468.7SPR, PTS, PAH, GSTZ1, QDPR
38dopamine46 30 25 1211.5SPR, HCRT, PTS, PAH, QDPR
39calcium46 52 25 1211.4HCRT, PTS, PAH, PDP1, QDPR
40tyrosine467.6SPR, HCRT, PTS, PAH, PDP1, GSTZ1

GO Terms for genes affiliated with Phenylketonuria

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Sources:
17Gene Ontology
See all sources

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:0065209.6QDPR, PTS
2L-phenylalanine catabolic processGO:0065599.5QDPR, GSTZ1, PAH
3cellular nitrogen compound metabolic processGO:0346419.3QDPR, GSTZ1, PAH
4regulation of nitric-oxide synthase activityGO:0509999.3SPR, PTS
5tetrahydrobiopterin biosynthetic processGO:0067299.2QDPR, PTS, SPR
6nitric oxide metabolic processGO:0462099.1SPR, PTS
7small molecule metabolic processGO:0442817.8SPR, PTS, PAH, PDP1, GSTZ1, 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Phenylketonuria

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet