ORPHA:708881
Phenylalanine hydroxylase deficiency
Synonyms: PAH deficiency
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phenylalanine hydroxylase deficiency | PAH deficiency |
| fr | Déficit en phénylalanine hydroxylase | Déficit en PAH |
| de | Phenylalanin-Hydroxylase-Defizienz | PAH-Mangel |
| es | Deficiencia de fenilalanina hidroxilasa | Deficiencia de PAH |
| it | Deficit di fenilalanina idrossilasi | Deficit di PAH |
| nl | Deficiëntie van fenylalaninehydroxylase | PAH-deficiëntie |
| pt | Phenylalanine hydroxylase deficiency | |
| pl | Niedobór hydroksylazy fenyloalaniny | = en |
| cs | Phenylalanine hydroxylase deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261600 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:284814Disorder of phenylalanine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708881
- This record as JSON: /data/d/708881.json