MHPA
MCID: MLD011
MIFTS: 35

Mild Hyperphenylalaninemia (MHPA) malady

Neuronal diseases, Metabolic diseases, Rare diseases categories

Summaries for Mild Hyperphenylalaninemia

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MalaCards based summary: 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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Sources:
48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Mild Hyperphenylalaninemia, Aliases & Descriptions:

Name: Mild Hyperphenylalaninemia 48
Hyperphenylalaninemia, Mild 61
Non-Pku Hpa 48
 
Mild Hpa 48
Mhpa 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet27 E70.1

Related Diseases for Mild Hyperphenylalaninemia

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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
1hyperphenylalaninemia30.5PAH, PCBD1, PTS, QDPR
2phenylketonuria30.3PTS, QDPR, PAH
3mental retardation29.6PTS, PAH, QDPR
4neurologic diseases10.1
56-pyruvoyl-tetrahydropterin synthase deficiency10.1
6dihydropteridine reductase deficiency10.1
7gtp cyclohydrolase i deficiency9.9QDPR, PTS
8insulin resistance9.9PCBD1, PTS
9tyrosinemia9.9PAH, PTS
10vitiligo9.8QDPR, PCBD1, PAH
11metabolic syndrome x9.8PAH, PTS
12type 2 diabetes mellitus9.8PTS, PCBD1

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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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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MalaCards organs/tissues related to Mild Hyperphenylalaninemia:

32
Bone, Brain

Animal Models for Mild Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5PCBD1, PAH, PTS
2MP:00011868.2PCBD1, PAH, 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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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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Pathways related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV37
tetrahydrobiopterin salvage37
9.4QDPR, PAH
29.1PTS, QDPR
3
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
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:
44Novoseek, 25HMDB, 12DrugBank, 29IUPHAR
See all sources

Compounds related to Mild Hyperphenylalaninemia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-biopterin449.7QDPR, PAH
2Sapropterin259.7PAH, QDPR
34a-hydroxytetrahydrobiopterin44 2510.6PAH, PCBD1
4dihydrofolate449.6PAH, QDPR
5folate449.4QDPR, PAH
6norepinephrine44 25 1211.4QDPR, PAH
7pteridine449.4QDPR, PTS
85-hydroxytryptophan449.4PTS, QDPR
9pcbd449.4PTS, PCBD1
10asparagine449.2PTS, PAH
117-biopterin449.2QDPR, PCBD1, PAH
12dihydrobiopterin44 2510.2QDPR, PCBD1, PAH
13histidine449.0PAH, PTS
14neopterin449.0QDPR, PAH, PTS
15levodopa44 129.9PTS, PAH, QDPR
16amine448.9QDPR, PAH, PTS
17catecholamine448.9PTS, PAH, QDPR
186-pyruvoyltetrahydropterin448.9PTS, PCBD1, QDPR
19hydrogen44 259.8QDPR, PAH, PTS
20lysine448.8PTS, PAH, QDPR
21dopamine44 29 25 1211.8QDPR, PAH, PTS
22threonine448.7QDPR, PAH, PTS
23dihydropteridine44 259.4QDPR, PCBD1, PAH, PTS
24sepiapterin44 259.4PTS, PAH, PCBD1, QDPR
25pterin44 259.4PTS, PAH, PCBD1, QDPR
26tetrahydrobiopterin44 25 1210.4PTS, PAH, PCBD1, QDPR
27phenylalanine448.3PTS, PAH, PCBD1, QDPR
28gtp44 299.3PTS, PAH, PCBD1, QDPR
29h2o2448.3QDPR, PCBD1, PAH, PTS
30tyrosine448.3PTS, PAH, QDPR

GO Terms for genes affiliated with Mild Hyperphenylalaninemia

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

Products for genes affiliated with Mild Hyperphenylalaninemia

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  • Antibodies
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  • Kits and Assays

Sources for Mild Hyperphenylalaninemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet