Disorder "Phenylketonuria"
Found 1 record
Disorder information
Disorder name:
Phenylketonuria
Disoder ID:
OMIM entry:
Synonyms:
phenylalanine hydroxylase deficiency, phenylalaninemia, Filling's disease, classical phenylketonuria, Filling's disease, maternal phenylketonuria, Phenylalanine hydroxylase deficiency, PKU, phenylketonuria, PAH deficiency
Definition:
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered brain toxicity of hyperphenylalaninaemia(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SLC7A5 | SLC7A5:rs148183733 | Expressivity | Altered brain toxicity of hyperphenylalaninaemia | Assessment of genotype–phenotype associations and gene activity study | mutations of the SLC7A5 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients.more | more |
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