Phenylketonuria (PKU)
Alias:
Phenylalanine Hydroxylase Deficiency
Pku
Pah Deficiency
Hyperphenylalaninemic Embryopathy
Maternal Hyperphenylalaninemia
Phenylketonuric Embryopathy
Maternal Phenylketonuria
Phenylketonurias
Hyperphenylalaninemia, Non-Pku Mild
Phenylketonuria, Maternal
Variant Phenylketonuria
Mild Phenylketonuria
Folling's Disease
Phenylalaninemia
Folling Disease
Maternal Pku
Variant Pku
Mild Pku
Mpku
Phenylalanine Hydroxylase Deficiency Disease
Non-Phenylketonuria Hyperphenylalaninemia
Oligophrenia Phenylpyruvica
Classical Phenylketonuria
Phenylketonuria Maternal
Pku - [phenylketonuria]
Hyperphenylalaninaemia
Hyperphenylalaninemia
Non-Pku Hpa
Hpa
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to classic phenylketonuria and hyperphenylalaninemia, and has symptoms including back pain, headache and pain. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dopamine and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include Liver, heart and skin, and related phenotypes are aminoaciduria and abnormal heart morphology
Related ID:
MESH:D010661
ICD11:444122923
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
1
16
697
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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No data available
Disease Model
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Name
MGI
Related Gene
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References
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IF
No Data Found!
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Comparison
Al agent
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