MCID: MLD011
MIFTS: 27

Mild Hyperphenylalaninemia malady

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mild Hyperphenylalaninemia

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mild Hyperphenylalaninemia:

Name: Mild Hyperphenylalaninemia 51
Non-Pku Hpa 51
 
Mild Hpa 51
Mhpa 51

Characteristics:

Orphanet epidemiological data:

51
mild hyperphenylalaninemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 79651
ICD10 via Orphanet28 E70.1

Summaries for Mild Hyperphenylalaninemia

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MalaCards based summary: Mild Hyperphenylalaninemia, also known as non-pku hpa, is related to phenylketonuria and prostate cancer. An important gene associated with Mild Hyperphenylalaninemia is PAH (Phenylalanine Hydroxylase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and Folate biosynthesis. Affiliated tissues include neutrophil, t cells and breast, and related mouse phenotypes are pigmentation and integument.

Related Diseases for Mild Hyperphenylalaninemia

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



Diseases related to mild hyperphenylalaninemia

Symptoms for Mild Hyperphenylalaninemia

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Drugs & Therapeutics for Mild Hyperphenylalaninemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1phenylalanineNutraceutical145

Interventional clinical trials:

idNameStatusNCT IDPhase
1Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyCompletedNCT01924026
2Biological Variation of Phenylalanine in Patients With HyperphenylalaninemiaCompletedNCT01869972
3Hyperphenylalaninemia in Cerebral MalariaCompletedNCT00338520

Search NIH Clinical Center for Mild Hyperphenylalaninemia

Genetic Tests for Mild Hyperphenylalaninemia

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Anatomical Context for Mild Hyperphenylalaninemia

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MalaCards organs/tissues related to Mild Hyperphenylalaninemia:

33
Neutrophil, T cells, Breast

Animal Models for Mild Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9PAH, PCBD1, PTS
2MP:00107718.8PAH, PCBD1, PTS
3MP:00053768.0PAH, PCBD1, PTS, QDPR

Publications for Mild Hyperphenylalaninemia

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Articles related to Mild Hyperphenylalaninemia:

(show all 27)
idTitleAuthorsYear
1
Significance of alanine aminotransferase levels in patients admitted for cocaine intoxication. (24518798)
2015
2
The androgen receptor mediates antiapoptotic function in myometrial cells. (25032861)
2014
3
Eosinophilic gastroenteritis with refractory ulcer disease and gastrointestinal bleeding as a rare manifestation of seronegative gastrointestinal food allergy. (25228412)
2014
4
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. (23063362)
2012
5
Lamotrigine and aseptic meningitis. (22357718)
2012
6
Seminal plasma reactive oxygen species-antioxidants relationship with varicocele grade. (21651600)
2012
7
The nephrologist's role in metformin-induced lactic acidosis. (21959726)
2011
8
Gender and ethnic differences in arterial compliance in patients with intermittent claudication. (20206806)
2010
9
A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling. (18280283)
2008
10
Single nucleotide polymorphisms of the melanocortin-3 receptor gene are associated with substrate oxidation and first-phase insulin secretion in offspring of type 2 diabetic subjects. (17192297)
2007
11
Transferrin saturation in the diagnostic algorithm of genetic hemochromatosis]. (16624237)
2006
12
Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes. (16300924)
2006
13
Triton-polyacrylamide gel electrophoresis and leucine aminopeptidase activity staining detect Triton-slowed bands including high-molecular-mass aminopeptidase N (CD13) isoform in cholestatic patient sera. (16137667)
2006
14
C-reactive protein and cardiorespiratory fitness in young adults. (15942418)
2005
15
The evolution of the glandular kallikrein locus: identification of orthologs and pseudogenes in the cotton-top tamarin. (15588589)
2004
16
Multifaceted roles of TNF-alpha in myoblast destruction: a multitude of signal transduction pathways. (14603526)
2004
17
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. (12948741)
2003
18
Type IV glycogen storage disease. (12013018)
2002
19
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. (11983912)
2002
20
A DNA vaccine encoding the 42 kDa C-terminus of merozoite surface protein 1 of Plasmodium falciparum induces antibody, interferon-gamma and cytotoxic T cell responses in rhesus monkeys: immuno-stimulatory effects of granulocyte macrophage-colony stimulating factor. (11841841)
2002
21
Limited proteolysis of the IGF binding protein-2 (IGFBP-2) by a specific serine protease activity in early breast milk. (10400138)
1999
22
Leptin receptor activation of SH2 domain containing protein tyrosine phosphatase 2 modulates Ob receptor signal transduction. (10449753)
1999
23
Matrix metalloproteinase-1 is associated with poor prognosis in oesophageal cancer. (9771478)
1998
24
Peroxisome proliferator-activated receptor (PPAR) alpha-regulated growth responses and their importance to hepatocarcinogenesis. (10022238)
1998
25
Diagnosis of blastomycosis. (9313297)
1997
26
Gelsolin-actin interaction and actin polymerization in human neutrophils. (2161855)
1990
27
The first pregnancies after treating of oligospermia by collected and stored human semen. (1143102)
1975

Variations for Mild Hyperphenylalaninemia

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Expression for genes affiliated with Mild Hyperphenylalaninemia

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Search GEO for disease gene expression data for Mild Hyperphenylalaninemia.

Pathways for genes affiliated with Mild Hyperphenylalaninemia

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GO Terms for genes affiliated with Mild Hyperphenylalaninemia

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

idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00067299.4PCBD1, QDPR
2cellular nitrogen compound metabolic processGO:00346419.1PAH, QDPR

Sources for Mild Hyperphenylalaninemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet