MHPA
MCID: MLD011
MIFTS: 27

Mild Hyperphenylalaninemia (MHPA) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Mild Hyperphenylalaninemia

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32MalaCards
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MalaCards: Mild Hyperphenylalaninemia, also known as hyperphenylalaninemia, mild, is related to hyperphenylalaninemia and phenylketonuria. An important gene associated with Mild Hyperphenylalaninemia is PAH (phenylalanine hydroxylase), and among its related pathways are tyrosine biosynthesis IV and Folate biosynthesis. The compounds 6-biopterin and 7,8-Dihydrobiopterin have been mentioned in the context of this disorder. Related mouse phenotype pigmentation.

Aliases & Classifications for Mild Hyperphenylalaninemia

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Sources:
60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
mild hyperphenylalaninemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mild hyperphenylalaninemia 48
hyperphenylalaninemia, mild 60
classical phenylketonuria 60
non-pku hpa 48
mild hpa 48
mhpa 48


External Ids:

ICD10 via Orphanet26 E70.1

Related Diseases for Mild Hyperphenylalaninemia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mild Hyperphenylalaninemia:



Diseases related to mild hyperphenylalaninemia

Clinical Features for Mild Hyperphenylalaninemia

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Drugs & Therapeutics for Mild Hyperphenylalaninemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mild Hyperphenylalaninemia

Drug clinical trials:

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Search NIH Clinical Center for Mild Hyperphenylalaninemia

Search CenterWatch for Mild Hyperphenylalaninemia

Genetic Tests for Mild Hyperphenylalaninemia

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Anatomical Context for Mild Hyperphenylalaninemia

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Animal Models for Mild Hyperphenylalaninemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5PTS, PAH, PCBD1

Publications for Mild Hyperphenylalaninemia

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Genetic Variations for Mild Hyperphenylalaninemia

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Expression for genes affiliated with Mild Hyperphenylalaninemia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mild Hyperphenylalaninemia

Search GEO for disease gene expression data for Mild Hyperphenylalaninemia.

Pathways for genes affiliated with Mild Hyperphenylalaninemia

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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome
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Pathways related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4PAH, QDPR
29.1PTS, QDPR
38.8PCBD1, PAH, QDPR
4
Hide members
8.8PAH, PCBD1, QDPR

Compounds for genes affiliated with Mild Hyperphenylalaninemia

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
16-biopterin449.7PAH, QDPR
27,8-Dihydrobiopterin119.6PAH, PCBD1
34a-hydroxytetrahydrobiopterin44 2410.6PAH, PCBD1
4dihydrofolate449.4QDPR, PAH
5folate449.4PAH, QDPR
6pcbd449.3PCBD1, PTS
7pteridine449.3QDPR, PTS
85-hydroxytryptophan449.3QDPR, PTS
97-biopterin449.2PAH, PCBD1, QDPR
10dihydrobiopterin44 2410.2QDPR, PCBD1, PAH
11asparagine449.0PTS, PAH
12neopterin448.9PTS, QDPR, PAH
13levodopa44 119.9QDPR, PAH, PTS
14amine448.9PTS, PAH, QDPR
156-pyruvoyltetrahydropterin448.9QDPR, PCBD1, PTS
16catecholamine448.8PAH, PTS, QDPR
17hydrogen44 249.8QDPR, PAH, PTS
18lysine448.7QDPR, PAH, PTS
19dopamine44 28 11 2411.7QDPR, PAH, PTS
20dihydropteridine44 249.4PTS, PAH, PCBD1, QDPR
21sepiapterin44 249.4PCBD1, PTS, PAH, QDPR
22pterin44 249.4QDPR, PAH, PTS, PCBD1
23tetrahydrobiopterin44 11 2410.3PTS, PAH, QDPR, PCBD1
24phenylalanine448.3PTS, PCBD1, QDPR, PAH
25gtp44 289.3QDPR, PCBD1, PTS, PAH
26threonine448.3PAH, QDPR, PTS
27h2o2448.3PCBD1, PAH, QDPR, PTS

GO Terms for genes affiliated with Mild Hyperphenylalaninemia

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16Gene Ontology
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Cellular components related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.0PTS, PAH, PCBD1, QDPR

Biological processes related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:0065209.1QDPR, PTS
2L-phenylalanine catabolic processGO:0065598.8PCBD1, QDPR, PAH
3cellular nitrogen compound metabolic processGO:0346418.7PAH, PCBD1, QDPR
4tetrahydrobiopterin biosynthetic processGO:0067298.6QDPR, PCBD1, PTS
5small molecule metabolic processGO:0442817.7PCBD1, PAH, PTS, QDPR

Products for genes affiliated with Mild Hyperphenylalaninemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mild Hyperphenylalaninemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet