MCID: CLS049
MIFTS: 35

Classic Phenylketonuria

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Classic Phenylketonuria

MalaCards integrated aliases for Classic Phenylketonuria:

Name: Classic Phenylketonuria 60
Phenylketonuria Classical 56
Classical Phenylketonuria 74
Classic Pku 60

Characteristics:

Orphanet epidemiological data:

60
classic phenylketonuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for Classic Phenylketonuria

MalaCards based summary : Classic Phenylketonuria, also known as phenylketonuria classical, is related to phenylketonuria and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including dry skin An important gene associated with Classic Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Folate biosynthesis. Affiliated tissues include skin, brain and liver, and related phenotypes are global developmental delay and intellectual disability, severe

Related Diseases for Classic Phenylketonuria

Diseases related to Classic Phenylketonuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 phenylketonuria 32.0 PAH PTS QDPR
2 hyperphenylalaninemia, bh4-deficient, a 30.9 PAH PTS QDPR
3 hyperphenylalaninemia 29.1 PAH PTS QDPR
4 maternal hyperphenylalaninemia 11.2
5 mild phenylketonuria 11.2
6 cataract 10.0
7 autism 9.9
8 leukemia, acute lymphoblastic 9.9
9 holoprosencephaly 9.9
10 leukemia 9.9
11 lymphocytic leukemia 9.9
12 lobar holoprosencephaly 9.9
13 hyperphenylalaninemia, bh4-deficient, b 9.7 PTS QDPR
14 tyrosinemia 9.6 PAH PTS
15 keratomalacia 9.6 PAH QDPR
16 mild hyperphenylalaninemia 9.4 PAH PTS QDPR
17 tetrahydrobiopterin deficiency 9.4 PAH PTS QDPR

Graphical network of the top 20 diseases related to Classic Phenylketonuria:



Diseases related to Classic Phenylketonuria

Symptoms & Phenotypes for Classic Phenylketonuria

Human phenotypes related to Classic Phenylketonuria:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
4 hypopigmentation of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0005599
5 hypopigmentation of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001010
6 hyperphenylalaninemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004923
7 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
8 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
9 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
10 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
11 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
12 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
13 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
14 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
15 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
16 eczema 60 33 frequent (33%) Frequent (79-30%) HP:0000964
17 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
18 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
19 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
20 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
21 lack of skin elasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0100679
22 motor deterioration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002333
23 hemiplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002301
24 paraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010550
25 behavioral abnormality 60 Very frequent (99-80%)
26 mental deterioration 60 Frequent (79-30%)

UMLS symptoms related to Classic Phenylketonuria:


dry skin

MGI Mouse Phenotypes related to Classic Phenylketonuria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 PAH PTS

Drugs & Therapeutics for Classic Phenylketonuria

Search Clinical Trials , NIH Clinical Center for Classic Phenylketonuria

Genetic Tests for Classic Phenylketonuria

Anatomical Context for Classic Phenylketonuria

MalaCards organs/tissues related to Classic Phenylketonuria:

42
Skin, Brain, Liver, Bone, Testes

Publications for Classic Phenylketonuria

Articles related to Classic Phenylketonuria:

(show top 50) (show all 63)
# Title Authors Year
1
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. ( 30201326 )
2018
2
Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. ( 29433755 )
2018
3
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria. ( 27742442 )
2017
4
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations. ( 28182360 )
2017
5
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection. ( 27156318 )
2016
6
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family]. ( 25449068 )
2014
7
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. ( 23465864 )
2013
8
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). ( 22290024 )
2012
9
[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis]. ( 23225049 )
2012
10
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. ( 21592835 )
2011
11
Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. ( 19652961 )
2009
12
Prevalence of classical phenylketonuria in mentally retarded individuals in Iran. ( 19768570 )
2009
13
Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. ( 18249021 )
2008
14
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up. ( 17480007 )
2007
15
Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. ( 17628756 )
2007
16
Cerebral glucose metabolism in adults with early treated classic phenylketonuria. ( 16343970 )
2006
17
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. ( 15991863 )
2005
18
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. ( 15922970 )
2005
19
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. ( 16242984 )
2005
20
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]. ( 15793771 )
2005
21
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies. ( 14530542 )
2003
22
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. ( 12555936 )
2002
23
Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. ( 11078575 )
2000
24
Postnatal growth in a mouse genetic model of classical phenylketonuria. ( 11487255 )
2000
25
Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria. ( 9184243 )
1997
26
Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria. ( 9266357 )
1997
27
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. ( 9427141 )
1997
28
Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study. ( 8828607 )
1996
29
Classical phenylketonuria associated with Goldenhar's syndrome. A case report. ( 8016917 )
1994
30
Long-term follow-up of children with classical phenylketonuria after diet discontinuation: a review. ( 8077570 )
1994
31
[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]. ( 7812811 )
1994
32
Treatment variables and intellectual outcome in children with classic phenylketonuria. A single-center-based study. ( 8365077 )
1993
33
Neurophysiological studies of patients with classical phenylketonuria: evaluation of results of IQ scores, EEG and evoked potentials. ( 8236512 )
1993
34
Iron status and iron supplementation in children with classical phenylketonuria. ( 8263269 )
1993
35
Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria. ( 1867197 )
1991
36
Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method. ( 1843186 )
1991
37
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. ( 2365821 )
1990
38
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. ( 1981599 )
1990
39
A Chinese classic phenylketonuria manifested as autism. ( 2597924 )
1989
40
Introduction of genomic diagnosis of classical phenylketonuria to the health care system of the German Democratic Republic. ( 2890455 )
1987
41
A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria. ( 3761073 )
1986
42
Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis. ( 2880342 )
1986
43
Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP. ( 3017615 )
1986
44
Pubertal maturation and classical phenylketonuria. ( 3099074 )
1986
45
Prenatal diagnosis of classic phenylketonuria by DNA analysis. ( 2857902 )
1985
46
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia. ( 3939594 )
1985
47
Amino acid and protein requirements in a preterm infant with classic phenylketonuria. ( 3985660 )
1985
48
Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis. ( 6472974 )
1984
49
Prenatal diagnosis of classical phenylketonuria by gene mapping. ( 6700105 )
1984
50
Neurophysiological, psychological, and nutritional investigations during discontinuation of the phenylalanine-restricted diet in children with classic phenylketonuria. ( 6615595 )
1983

Variations for Classic Phenylketonuria

Expression for Classic Phenylketonuria

Search GEO for disease gene expression data for Classic Phenylketonuria.

Pathways for Classic Phenylketonuria

GO Terms for Classic Phenylketonuria

Biological processes related to Classic Phenylketonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid metabolic process GO:0006520 9.16 PTS QDPR
2 L-phenylalanine catabolic process GO:0006559 8.96 PAH QDPR
3 tetrahydrobiopterin biosynthetic process GO:0006729 8.62 PTS QDPR

Sources for Classic Phenylketonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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