ORPHA:708895
Tetrahydrobiopterin-unresponsive phenylketonuria
Synonyms: BH4-unresponsive PKU · BH4-unresponsive phenylketonuria · Tetrahydrobiopterin-unresponsive PKU
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetrahydrobiopterin-unresponsive phenylketonuria | BH4-unresponsive PKU · BH4-unresponsive phenylketonuria · Tetrahydrobiopterin-unresponsive PKU |
| fr | Phénylcétonurie résistant à la tétrahydrobioptérine | PCU BH4 résistant · PKU BH4 résistant · Phénylcétonurie BH4 résistant · Phénylcétonurie résistant au BH4 |
| de | Tetrahydrobiopterin-resistente Phenylketonurie | BH4-non-responsive Phenylketonurie · BH4-resistente Phenylketonurie · BH4-unresponsive PKU |
| es | Fenilcetonuria sin respuesta a tetrahidrobiopterina | Fenilcetonuria sin respuesta a BH4 · PKU sin respuesta a BH4 · PKU sin respuesta a tetrahidrobiopterina |
| it | Fenilchetonuria non rispondente alla tetraidrobiopterina | PKU non rispondente a BH4 · Fenilchetonuria non rispondente a BH4 · PKU non rispondente alla tetraidrobiopterina |
| nl | Fenylketonurie ongevoelig voor tetrahydrobiopterine | BH4-resistente PKU · BH4-resistente fenylketonurie · PKU ongevoelig voor tetrahydrobiopterine |
| pt | Tetrahydrobiopterin-unresponsive phenylketonuria | |
| pl | Fenyloketonuria niereagująca na tetrahydrobiopterynę | = en |
| cs | Tetrahydrobiopterin-unresponsive phenylketonuria | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261600 | NTBT | 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 (1):
- ORPHA:716Phenylketonuria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAH | Disease-causing germline mutation(s) in | Assessed | HGNC:8582 | ENSG00000171759 | 612349 | 12q23.2 | phenylalanine hydroxylase | 29025426[PMID] |
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708895
- This record as JSON: /data/d/708895.json