MCID: MLD011
MIFTS: 26

Mild Hyperphenylalaninemia malady

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mild Hyperphenylalaninemia

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mild Hyperphenylalaninemia:

Name: Mild Hyperphenylalaninemia 52
Non-Pku Hpa 52
 
Mild Hpa 52
Mhpa 52

Characteristics:

Orphanet epidemiological data:

52
mild hyperphenylalaninemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA79651
ICD10 via Orphanet29 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 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 homeostasis/metabolism.

Related Diseases for Mild Hyperphenylalaninemia

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

idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria10.7
2hyperphenylalaninemia10.6
3plummer's disease9.5PAH, QDPR
4hyperhomocysteinemia9.5PTS, QDPR
5noonan syndrome 18.9PAH, PTS, QDPR
6vulvovaginal gingival syndrome8.5PAH, PCBD1, PTS, QDPR
749, xxxxx8.5PAH, PCBD1, PTS, QDPR
8isodicentric 158.4PAH, PCBD1, PTS, QDPR

Graphical network of 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
1phenylalanineNutraceutical155

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:

34
Brain, Bone

Animal Models for Mild Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8PAH, PCBD1, PTS
2MP:00053768.0PAH, PCBD1, PTS, QDPR

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
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria. (3761084)
1986
21
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. (3702929)
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:00065209.5PTS, QDPR
2L-phenylalanine catabolic processGO:00065599.4PAH, PCBD1, QDPR
3oxidation-reduction processGO:00551148.8PAH, PCBD1, QDPR
4tetrahydrobiopterin biosynthetic processGO:00067298.7PCBD1, 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:00428038.6PAH, PTS, QDPR

Sources for Mild Hyperphenylalaninemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet