MCID: MLD011
MIFTS: 30

Mild Hyperphenylalaninemia

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mild Hyperphenylalaninemia

MalaCards integrated aliases for Mild Hyperphenylalaninemia:

Name: Mild Hyperphenylalaninemia 59
Non-Pku Hpa 59
Mild Hpa 59
Mhpa 59

Characteristics:

Orphanet epidemiological data:

59
mild hyperphenylalaninemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA79651
ICD10 via Orphanet 34 E70.1

Summaries for Mild Hyperphenylalaninemia

MalaCards based summary : Mild Hyperphenylalaninemia, also known as non-pku hpa, is related to phenylketonuria and hyperphenylalaninemia. An important gene associated with Mild Hyperphenylalaninemia is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Verapamil and calcium channel blockers have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and bone, and related phenotypes are homeostasis/metabolism and pigmentation

Related Diseases for Mild Hyperphenylalaninemia

Diseases related to Mild Hyperphenylalaninemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phenylketonuria 30.0 PAH PTS QDPR
2 hyperphenylalaninemia 28.1 PAH PCBD1 PTS QDPR
3 hyperphenylalaninemia, bh4-deficient, c 9.8
4 hyperphenylalaninemia, bh4-deficient, a 9.8
5 hyperphenylalaninemia, bh4-deficient, b 9.2 PTS QDPR
6 keratomalacia 9.2 PAH QDPR
7 tyrosinemia 9.2 PAH PTS
8 classic phenylketonuria 8.7 PAH PTS QDPR
9 tetrahydrobiopterin deficiency 8.2 PAH PCBD1 PTS QDPR

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



Diseases related to Mild Hyperphenylalaninemia

Symptoms & Phenotypes for Mild Hyperphenylalaninemia

MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.26 PAH PCBD1 PTS QDPR
2 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):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4 52-53-9 2520
2 calcium channel blockers Phase 4
3 Anti-Arrhythmia Agents Phase 4
4 Vasodilator Agents Phase 4
5 Pharmaceutical Solutions Phase 4
6 Calcium, Dietary Phase 4
7 phenylalanine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
2 Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study Completed NCT01924026

Search NIH Clinical Center for Mild Hyperphenylalaninemia

Genetic Tests for Mild Hyperphenylalaninemia

Anatomical Context for Mild Hyperphenylalaninemia

MalaCards organs/tissues related to Mild Hyperphenylalaninemia:

41
Testes, Brain, Bone

Publications for Mild Hyperphenylalaninemia

Articles related to Mild Hyperphenylalaninemia:

(show all 29)
# Title Authors Year
1
Cognitive functioning in mild hyperphenylalaninemia. ( 28649547 )
2015
2
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. ( 25237320 )
2014
3
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - Whom and what to screen? ( 24246852 )
2013
4
Neurocognitive function in mild hyperphenylalaninemia. ( 21418193 )
2011
5
Mild hyperphenylalaninemia: to treat or not to treat. ( 21347590 )
2011
6
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. ( 21632269 )
2011
7
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. ( 21336059 )
2011
8
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. ( 18346471 )
2008
9
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. ( 15984017 )
2005
10
Pregnancy experiences in the woman with mild hyperphenylalaninemia. ( 14654663 )
2003
11
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. ( 11264437 )
2001
12
[Serum tyrosine in children with phenylketonuria and mild hyperphenylalaninemia]. ( 11013857 )
2000
13
Neuropsychological function in mild hyperphenylalaninemia. ( 10755172 )
2000
14
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. ( 10495930 )
1999
15
Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. ( 9562969 )
1998
16
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. ( 9298832 )
1997
17
Maternal non-phenylketonuric mild hyperphenylalaninemia. ( 8828603 )
1996
18
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. ( 7749420 )
1995
19
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters. ( 8071761 )
1994
20
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. ( 8352282 )
1993
21
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. ( 1301200 )
1992
22
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. ( 3702929 )
1986
23
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria. ( 3761084 )
1986
24
Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. ( 6502349 )
1984
25
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. ( 312482 )
1979
26
Tolerance of protein and lipid synthesis to mild hyperphenylalaninemia in developing rat brain. ( 1174961 )
1975
27
Persistent mild hyperphenylalaninemia in the untreated state. A prospective study. ( 5557279 )
1971
28
Persistent mild hyperphenylalaninemia in various ethnic groups in Israel. ( 5820597 )
1969
29
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. ( 5374976 )
1969

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 PAH PCBD1 QDPR
2 cellular amino acid metabolic process GO:0006520 9.16 PTS QDPR
3 L-phenylalanine catabolic process GO:0006559 9.13 PAH PCBD1 QDPR
4 tetrahydrobiopterin biosynthetic process GO:0006729 8.8 PCBD1 PTS QDPR

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 PCBD1 PTS
2 phenylalanine 4-monooxygenase activity GO:0004505 8.62 PAH PCBD1

Sources for Mild Hyperphenylalaninemia

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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