MCID: MLD011
MIFTS: 26

Mild Hyperphenylalaninemia

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mild Hyperphenylalaninemia

MalaCards integrated aliases for Mild Hyperphenylalaninemia:

Name: Mild Hyperphenylalaninemia 56
Non-Pku Hpa 56
Mild Hpa 56
Mhpa 56

Characteristics:

Orphanet epidemiological data:

56
mild hyperphenylalaninemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 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 drug phenylalanine has been mentioned in the context of this disorder. Affiliated tissues include brain and bone, and related phenotype is pigmentation.

Related Diseases for Mild Hyperphenylalaninemia

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

id Related Disease Score Top Affiliating Genes
1 phenylketonuria 11.2
2 hyperphenylalaninemia 10.5
3 ocular hypertension 9.7 PAH PTS
4 frias syndrome 9.3 PTS QDPR
5 solar retinopathy 9.2 PAH QDPR
6 x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 8.9 PAH PTS QDPR
7 mycoplasma encephalitis 8.5 PAH PCBD1 PTS QDPR
8 47,xyy syndrome 8.5 PAH PCBD1 PTS QDPR
9 muscular dystrophy, duchenne and becker type 8.5 PAH PCBD1 PTS QDPR
10 noonan syndrome 1 8.4 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:

44
id 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 phenylalanine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study Completed NCT01924026
2 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
3 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520

Search NIH Clinical Center for Mild Hyperphenylalaninemia

Genetic Tests for Mild Hyperphenylalaninemia

Anatomical Context for Mild Hyperphenylalaninemia

MalaCards organs/tissues related to Mild Hyperphenylalaninemia:

39
Brain, Bone

Publications for Mild Hyperphenylalaninemia

Articles related to Mild Hyperphenylalaninemia:

(show all 28)
id 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
Mild hyperphenylalaninemia: to treat or not to treat. ( 21347590 )
2011
5
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. ( 21336059 )
2011
6
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. ( 21632269 )
2011
7
Neurocognitive function in mild hyperphenylalaninemia. ( 21418193 )
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
Neuropsychological function in mild hyperphenylalaninemia. ( 10755172 )
2000
13
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. ( 10495930 )
1999
14
Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. ( 9562969 )
1998
15
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. ( 9298832 )
1997
16
Maternal non-phenylketonuric mild hyperphenylalaninemia. ( 8828603 )
1996
17
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. ( 7749420 )
1995
18
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters. ( 8071761 )
1994
19
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. ( 8352282 )
1993
20
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. ( 1301200 )
1992
21
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria. ( 3761084 )
1986
22
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. ( 3702929 )
1986
23
Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. ( 6502349 )
1984
24
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. ( 312482 )
1979
25
Tolerance of protein and lipid synthesis to mild hyperphenylalaninemia in developing rat brain. ( 1174961 )
1975
26
Persistent mild hyperphenylalaninemia in the untreated state. A prospective study. ( 5557279 )
1971
27
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. ( 5374976 )
1969
28
Persistent mild hyperphenylalaninemia in various ethnic groups in Israel. ( 5820597 )
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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....