MHPA
MCID: MLD011
MIFTS: 24

Mild Hyperphenylalaninemia (MHPA)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mild Hyperphenylalaninemia

MalaCards integrated aliases for Mild Hyperphenylalaninemia:

Name: Mild Hyperphenylalaninemia 58
Non-Pku Hpa 58
Mild Hpa 58
Mhpa 58

Characteristics:

Orphanet epidemiological data:

58
mild hyperphenylalaninemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E70.1
Orphanet 58 ORPHA79651

Summaries for Mild Hyperphenylalaninemia

MalaCards based summary : Mild Hyperphenylalaninemia, also known as non-pku hpa, is related to phenylketonuria and classic phenylketonuria. An important gene associated with Mild Hyperphenylalaninemia is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Folate biosynthesis. The drug Phenylalanine has been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Mild Hyperphenylalaninemia

Graphical network of the top 20 diseases related to Mild Hyperphenylalaninemia:



Diseases related to Mild Hyperphenylalaninemia

Symptoms & Phenotypes for Mild Hyperphenylalaninemia

GenomeRNAi Phenotypes related to Mild Hyperphenylalaninemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.91 DNAJC12
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.91 DNAJC12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.91 DNAJC12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.91 DNAJC12 QDPR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.91 QDPR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.91 DNAJC12 QDPR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.91 DNAJC12 QDPR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.91 DNAJC12
9 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.91 DNAJC12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.91 DNAJC12

MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 PAH PCBD1 PTS

Drugs & Therapeutics for Mild Hyperphenylalaninemia

Drugs for Mild Hyperphenylalaninemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenylalanine Approved, Investigational, Nutraceutical 63-91-2 6140

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neuropsychological and Quality of Life Outcomes in Untreated Adults With Mild Hyperphenylalaninemia (MHP)/Phenylketonuria (PKU) With Phenylalanine Levels Between 360 and 600 µmol/L Caused by Phenylalanine Hydroxylase (PAH) Deficiency. Completed NCT01924026

Search NIH Clinical Center for Mild Hyperphenylalaninemia

Genetic Tests for Mild Hyperphenylalaninemia

Anatomical Context for Mild Hyperphenylalaninemia

Publications for Mild Hyperphenylalaninemia

Articles related to Mild Hyperphenylalaninemia:

(show top 50) (show all 151)
# Title Authors PMID Year
1
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan. 61
33803550 2021
2
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants. 61
33677757 2021
3
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. 61
32893076 2021
4
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria. 61
33581706 2020
5
Neonatal phenylalanine wash-out in phenylketonuria. 61
32661828 2020
6
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects. 61
32800687 2020
7
Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia. 61
32519510 2020
8
The Genetic Landscape and Epidemiology of Phenylketonuria. 61
32668217 2020
9
Neuroendocrine Response to Apomorphine After Tetrahydrobiopterin Use in a Depressed Teenager With Mild Hyperphenylalaninemia: A Case Report. 61
32639296 2020
10
Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background. 61
32409273 2020
11
Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country. 61
31688717 2020
12
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. 61
31623983 2019
13
Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis. 61
31484352 2019
14
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 61
30747360 2019
15
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil. 61
30829006 2019
16
Phenylketonuria: Current Treatments and Future Developments. 61
30864096 2019
17
Phenylketonuria Diet Promotes Shifts in Firmicutes Populations. 61
31058098 2019
18
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. 61
31737040 2019
19
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. 61
30139987 2018
20
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. 61
30459323 2018
21
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. 61
30037505 2018
22
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice. 61
29520738 2018
23
Carbohydrate status in patients with phenylketonuria. 61
29945661 2018
24
Phenylketonuric diet negatively impacts on butyrate production. 61
29502926 2018
25
Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence. 61
29651832 2018
26
Cognitive and behavioral impairment in mild hyperphenylalaninemia. 61
31365197 2018
27
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. 61
29102225 2017
28
Growth and Final Height Among Children With Phenylketonuria. 61
29089407 2017
29
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial. 61
28274234 2017
30
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark. 61
26542770 2016
31
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 61
27121329 2016
32
[High plasma folate in patients with phenylketonuria]. 61
27137821 2016
33
Cognitive functioning in mild hyperphenylalaninemia. 61
28649547 2015
34
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 61
26666653 2015
35
New insights in growth of phenylketonuric patients. 61
25367055 2015
36
[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian]. 61
25863076 2015
37
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. 61
25825540 2015
38
Computational study of missense mutations in phenylalanine hydroxylase. 61
25750018 2015
39
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride. 61
25497838 2015
40
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. 61
28649530 2015
41
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. 61
25237320 2014
42
[What disorders suspect following an increase of phenylalanine on newborn screening?]. 61
24736139 2014
43
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 61
24296287 2014
44
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen? 61
24246852 2014
45
Randomized controlled trial of a protein substitute with prolonged release on the protein status of children with phenylketonuria. 61
24724767 2014
46
The complexity of newborn screening follow-up in phenylketonuria. 61
25155776 2014
47
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. 61
23690520 2013
48
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. 61
23357515 2013
49
Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? 61
24051226 2013
50
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. 61
22644647 2012

Variations for Mild Hyperphenylalaninemia

Expression for Mild Hyperphenylalaninemia

Search GEO for disease gene expression data for Mild Hyperphenylalaninemia.

Pathways for Mild Hyperphenylalaninemia

GO Terms for Mild Hyperphenylalaninemia

Biological processes related to Mild Hyperphenylalaninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 QDPR PCBD1 PAH
2 cellular amino acid metabolic process GO:0006520 9.16 QDPR PTS
3 L-phenylalanine catabolic process GO:0006559 9.13 QDPR PCBD1 PAH
4 tetrahydrobiopterin biosynthetic process GO:0006729 8.8 QDPR PTS PCBD1

Molecular functions related to Mild Hyperphenylalaninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.96 PTS PCBD1
2 phenylalanine 4-monooxygenase activity GO:0004505 8.62 PCBD1 PAH

Sources for Mild Hyperphenylalaninemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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