MCID: MLD011
MIFTS: 27

Mild Hyperphenylalaninemia malady

Neuronal diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Mild Hyperphenylalaninemia

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Mild Hyperphenylalaninemia:

Name: Mild Hyperphenylalaninemia 51
Hyperphenylalaninemia, Mild 65
Non-Pku Hpa 51
 
Mild Hpa 51
Mhpa 51


Classifications:



Characteristics (Orphanet epidemiological data):

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


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 hyperphenylalaninemia, mild, is related to phenylketonuria and hyperphenylalaninemia. 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 brain and bone, 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
1phenylalanineNutraceutical130

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
Brain, Bone

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

Publications for Mild Hyperphenylalaninemia

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Articles related to Mild Hyperphenylalaninemia:

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

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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Cellular components related to Mild Hyperphenylalaninemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.0PAH, PCBD1, PTS, QDPR

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

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:00065209.3PTS, QDPR
2L-phenylalanine catabolic processGO:00065599.2PAH, PCBD1, QDPR
3tetrahydrobiopterin biosynthetic processGO:00067298.8PCBD1, PTS, QDPR
4cellular nitrogen compound metabolic processGO:00346418.6PAH, PCBD1, QDPR
5oxidation-reduction processGO:00551148.6PAH, PCBD1, QDPR
6small molecule metabolic processGO:00442817.9PAH, PCBD1, PTS, QDPR

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

idNameGO IDScoreTop Affiliating Genes
1phenylalanine 4-monooxygenase activityGO:000450510.0PAH, PCBD1
2protein homodimerization activityGO:00428038.5PAH, PTS, 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