MHPA
MCID: MLD011
MIFTS: 35

Mild Hyperphenylalaninemia (MHPA) malady

Neuronal diseases, Rare diseases categories
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Summaries for Mild Hyperphenylalaninemia

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33MalaCards
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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 phenylalanine degradation I and Folate biosynthesis. The compounds 6-biopterin and Sapropterin have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related mouse phenotypes are integument and pigmentation.

Aliases & Classifications for Mild Hyperphenylalaninemia

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62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
mild hyperphenylalaninemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mild hyperphenylalaninemia 49
hyperphenylalaninemia, mild 62
classical phenylketonuria 62
non-pku hpa 49
mild hpa 49
mhpa 49


External Ids:

ICD10 via Orphanet26 E70.1

Related Diseases for Mild Hyperphenylalaninemia

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17GeneCards, 18GeneDecks
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Diseases related to Mild Hyperphenylalaninemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia31.1QDPR, PCBD1, PAH, PTS
2phenylketonuria30.6QDPR, PAH, PTS
3mental retardation30.0QDPR, PAH, PTS
4neurologic diseases10.1
56-pyruvoyl-tetrahydropterin synthase deficiency10.1
6dihydropteridine reductase deficiency10.1
7gtp cyclohydrolase i deficiency10.0QDPR, PTS
8insulin resistance10.0PCBD1, PTS
9tyrosinemia10.0PAH, PTS
10vitiligo10.0QDPR, PCBD1, PAH
11metabolic syndrome x9.9PTS, PAH
12type 2 diabetes mellitus9.9PCBD1, PTS

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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mild Hyperphenylalaninemia

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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33MalaCards
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MalaCards organs/tissues related to Mild Hyperphenylalaninemia:

33
Bone, Brain

Animal Models for Mild Hyperphenylalaninemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5PCBD1, PAH, PTS
2MP:00011868.2PCBD1, PAH, PTS

Publications for Mild Hyperphenylalaninemia

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52PubMed
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Articles related to Mild Hyperphenylalaninemia:

(show all 26)
idTitleAuthorsYear
1
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - Whom and what to screen? (24246852)
2013
2
Mild hyperphenylalaninemia: to treat or not to treat. (21347590)
2011
3
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. (21632269)
2011
4
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. (21336059)
2011
5
Neurocognitive function in mild hyperphenylalaninemia. (21418193)
2011
6
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. (18346471)
2008
7
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. (15984017)
2005
8
Pregnancy experiences in the woman with mild hyperphenylalaninemia. (14654663)
2003
9
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. (11264437)
2001
10
Neuropsychological function in mild hyperphenylalaninemia. (10755172)
2000
11
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. (10495930)
1999
12
Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. (9562969)
1998
13
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. (9298832)
1997
14
Maternal non-phenylketonuric mild hyperphenylalaninemia. (8828603)
1996
15
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. (7749420)
1995
16
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters. (8071761)
1994
17
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. (8352282)
1993
18
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. (1301200)
1992
19
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. (3702929)
1986
20
Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuria. (3761084)
1986
21
Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. (6502349)
1984
22
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. (312482)
1979
23
Tolerance of protein and lipid synthesis to mild hyperphenylalaninemia in developing rat brain. (1174961)
1975
24
Persistent mild hyperphenylalaninemia in the untreated state. A prospective study. (5557279)
1971
25
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. (5374976)
1969
26
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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Sources:
2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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Pathways related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV38
tetrahydrobiopterin salvage38
9.4QDPR, PAH
29.1PTS, QDPR
3
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.8QDPR, PCBD1, PAH
4
Show member pathways
8.0QDPR, PCBD1, PAH, PTS

Compounds for genes affiliated with Mild Hyperphenylalaninemia

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Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-biopterin459.7QDPR, PAH
2Sapropterin249.7PAH, QDPR
34a-hydroxytetrahydrobiopterin45 2410.6PAH, PCBD1
4dihydrofolate459.6PAH, QDPR
5folate459.4QDPR, PAH
6norepinephrine45 24 1111.4QDPR, PAH
7pteridine459.4QDPR, PTS
85-hydroxytryptophan459.4PTS, QDPR
9pcbd459.4PTS, PCBD1
10asparagine459.2PTS, PAH
117-biopterin459.2QDPR, PCBD1, PAH
12dihydrobiopterin45 2410.2QDPR, PCBD1, PAH
13histidine459.0PAH, PTS
14neopterin459.0QDPR, PAH, PTS
15levodopa45 119.9PTS, PAH, QDPR
16amine458.9QDPR, PAH, PTS
17catecholamine458.9PTS, PAH, QDPR
186-pyruvoyltetrahydropterin458.9PTS, PCBD1, QDPR
19hydrogen45 249.8QDPR, PAH, PTS
20lysine458.8PTS, PAH, QDPR
21dopamine45 29 24 1111.8QDPR, PAH, PTS
22threonine458.7QDPR, PAH, PTS
23dihydropteridine45 249.4QDPR, PCBD1, PAH, PTS
24sepiapterin45 249.4PTS, PAH, PCBD1, QDPR
25pterin45 249.4PTS, PAH, PCBD1, QDPR
26tetrahydrobiopterin45 24 1110.4PTS, PAH, PCBD1, QDPR
27phenylalanine458.3PTS, PAH, PCBD1, QDPR
28gtp45 299.3PTS, PAH, PCBD1, QDPR
29h2o2458.3QDPR, PCBD1, PAH, PTS
30tyrosine458.3PTS, PAH, QDPR

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:0058298.0QDPR, PCBD1, PAH, PTS

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

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

Products for genes affiliated with Mild Hyperphenylalaninemia

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Mild Hyperphenylalaninemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet