MCID: MLD011
MIFTS: 30

Mild Hyperphenylalaninemia 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:
47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Mild Hyperphenylalaninemia, Aliases & Descriptions:

Name: Mild Hyperphenylalaninemia 47
Hyperphenylalaninemia, Mild 60
Non-Pku Hpa 47
 
Mild Hpa 47
Mhpa 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
mild hyperphenylalaninemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 79651
ICD10 via Orphanet26 E70.1

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
1hyperphenylalaninemia30.5PAH, PCBD1, PTS, QDPR
2phenylketonuria30.2PTS, QDPR, PAH
3mental retardation29.6PTS, PAH, QDPR
4neurologic diseases10.1
5gtp cyclohydrolase i deficiency9.9QDPR, PTS
6diabetes mellitus, noninsulin-dependent9.9PCBD1, PTS
7tyrosinemia9.9PAH, PTS
8vitiligo-associated multiple autoimmune disease susceptibility 19.8QDPR, PCBD1, PAH
9metabolic syndrome x9.8PAH, 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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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:

31
Bone, Brain

Animal Models for Mild Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Mild Hyperphenylalaninemia:

35
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 26)
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
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tyrosine biosynthesis IV36
tetrahydrobiopterin salvage36
9.4PAH, QDPR
29.1QDPR, PTS
3
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.8PCBD1, QDPR, PAH
4
Show member pathways
8.0PTS, PAH, PCBD1, QDPR

Compounds for genes affiliated with Mild Hyperphenylalaninemia

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Mild Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-biopterin439.7QDPR, PAH
2Sapropterin249.7PAH, QDPR
34a-hydroxytetrahydrobiopterin43 2410.6PAH, PCBD1
4dihydrofolate439.6PAH, QDPR
5folate439.4QDPR, PAH
6norepinephrine43 24 1211.4QDPR, PAH
7pteridine439.4QDPR, PTS
85-hydroxytryptophan439.4PTS, QDPR
9pcbd439.4PTS, PCBD1
10asparagine439.2PTS, PAH
117-biopterin439.2QDPR, PCBD1, PAH
12dihydrobiopterin43 2410.2QDPR, PCBD1, PAH
13histidine439.0PAH, PTS
14neopterin439.0QDPR, PAH, PTS
15levodopa43 129.9PTS, PAH, QDPR
16amine438.9QDPR, PAH, PTS
17catecholamine438.9PTS, PAH, QDPR
186-pyruvoyltetrahydropterin438.9PTS, PCBD1, QDPR
19hydrogen43 249.8QDPR, PAH, PTS
20lysine438.8PTS, PAH, QDPR
21dopamine43 28 24 1211.8QDPR, PAH, PTS
22threonine438.7QDPR, PAH, PTS
23dihydropteridine43 249.4QDPR, PCBD1, PAH, PTS
24sepiapterin43 249.4PTS, PAH, PCBD1, QDPR
25pterin43 249.4PTS, PAH, PCBD1, QDPR
26tetrahydrobiopterin43 24 1210.4PTS, PAH, PCBD1, QDPR
27phenylalanine438.3PTS, PAH, PCBD1, QDPR
28gtp43 289.3PTS, PAH, PCBD1, QDPR
29h2o2438.3QDPR, PCBD1, PAH, PTS
30tyrosine438.3PTS, PAH, QDPR

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:00058298.0QDPR, PCBD1, PAH, PTS

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

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:00065209.1PTS, QDPR
2L-phenylalanine catabolic processGO:00065598.8PCBD1, PAH, QDPR
3cellular nitrogen compound metabolic processGO:00346418.7QDPR, PCBD1, PAH
4tetrahydrobiopterin biosynthetic processGO:00067298.6PTS, PCBD1, QDPR
5small molecule metabolic processGO:00442817.7PAH, PCBD1, QDPR, PTS

Products for genes affiliated with Mild Hyperphenylalaninemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mild Hyperphenylalaninemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet