Phenylketonuria
Pathways in the Phenylketonuria SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | Phenylketonuria | Reactome | |
| 2 | L-tyrosine biosynthesis IV | PubChem |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | PAH | Phenylalanine Hydroxylase | Protein Coding | 2 |
Disorders associated with Phenylketonuria SuperPath
according to GeneCards Suite gene sharing
| # | Disorder | Type | Genes | Score |
|---|---|---|---|---|
| 1 | Phenylketonuria | Direct | ||
| 2 | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | Enrichment | PAH | 4.13 |
| 3 | Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities | Enrichment | PAH | 3.83 |
| 4 | Pituitary hormone deficiency, combined, 2 | Enrichment | PAH | 3.66 |
| 5 | Propionic acidemia | Enrichment | PAH | 3.53 |
| 6 | Hyperphenylalaninemia, bh4-deficient, a | Enrichment | PAH | 3.35 |
| 7 | Pulmonary hypertension, primary, 1 | Enrichment | PAH | 3.02 |
| 8 | Rasopathy | Enrichment | PAH | 2.72 |
| 9 | Breast cancer | Enrichment | PAH | 2.26 |
