MCID: CLS049
MIFTS: 38

Classic Phenylketonuria

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Classic Phenylketonuria

MalaCards integrated aliases for Classic Phenylketonuria:

Name: Classic Phenylketonuria 59
Phenylketonuria Classical 55
Classical Phenylketonuria 73
Classic Pku 59

Characteristics:

Orphanet epidemiological data:

59
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 bone, and related phenotypes are depressivity and seizures

Related Diseases for Classic Phenylketonuria

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 phenylketonuria 32.3 PAH PTS QDPR
2 hyperphenylalaninemia, bh4-deficient, a 31.1 PAH PTS QDPR
3 mild phenylketonuria 11.5
4 maternal hyperphenylalaninemia 11.2
5 autism 9.9
6 leukemia, acute lymphoblastic 9.9
7 holoprosencephaly 9.9
8 lymphocytic leukemia 9.9
9 lobar holoprosencephaly 9.9
10 hyperphenylalaninemia, bh4-deficient, b 9.8 PTS QDPR
11 tyrosinemia 9.8 PAH PTS
12 keratomalacia 9.7 PAH QDPR
13 mild hyperphenylalaninemia 9.6 PAH PTS QDPR
14 hyperphenylalaninemia 9.6 PAH PTS QDPR
15 tetrahydrobiopterin deficiency 9.6 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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
4 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
5 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
6 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
7 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
8 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
11 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
12 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
13 lack of skin elasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100679
14 motor deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002333
15 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
16 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
17 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
18 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
19 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
20 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
21 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
22 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
23 paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010550
24 hyperphenylalaninemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004923
25 behavioral abnormality 59 Very frequent (99-80%)
26 mental deterioration 59 Frequent (79-30%)

UMLS symptoms related to Classic Phenylketonuria:


dry skin

MGI Mouse Phenotypes related to Classic Phenylketonuria:

46
# 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:

41
Skin, Brain, Bone

Publications for Classic Phenylketonuria

Articles related to Classic Phenylketonuria:

(show all 39)
# Title Authors Year
1
Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. ( 29433755 )
2018
2
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. ( 30201326 )
2018
3
Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations. ( 28182360 )
2017
4
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection. ( 27156318 )
2016
5
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria. ( 27742442 )
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
[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis]. ( 23225049 )
2012
9
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). ( 22290024 )
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
Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. ( 17628756 )
2007
15
Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up. ( 17480007 )
2007
16
Cerebral glucose metabolism in adults with early treated classic phenylketonuria. ( 16343970 )
2006
17
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]. ( 15793771 )
2005
18
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. ( 16242984 )
2005
19
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. ( 15991863 )
2005
20
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. ( 15922970 )
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
Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria. ( 10200057 )
1998
25
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. ( 9427141 )
1997
26
[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]. ( 7812811 )
1994
27
Treatment variables and intellectual outcome in children with classic phenylketonuria. A single-center-based study. ( 8365077 )
1993
28
Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method. ( 1843186 )
1991
29
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. ( 2365821 )
1990
30
A Chinese classic phenylketonuria manifested as autism. ( 2597924 )
1989
31
A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria. ( 3761073 )
1986
32
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia. ( 3939594 )
1985
33
Prenatal diagnosis of classic phenylketonuria by DNA analysis. ( 2857902 )
1985
34
Amino acid and protein requirements in a preterm infant with classic phenylketonuria. ( 3985660 )
1985
35
Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis. ( 6472974 )
1984
36
Neurophysiological, psychological, and nutritional investigations during discontinuation of the phenylalanine-restricted diet in children with classic phenylketonuria. ( 6615595 )
1983
37
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. ( 6316140 )
1983
38
Classic phenylketonuria: diagnosis through heterozygote detection. ( 1127497 )
1975
39
Classic phenylketonuria: heterozygote detection during pregnancy. ( 4773479 )
1973

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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