Mild hyperphenylalaninemia
Synonyms: Mild HPA · Non-PKU HPA · mHPA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mild hyperphenylalaninemia | Mild HPA · Non-PKU HPA · mHPA |
| fr | Hyperphénylalaninémie modérée | HMP · HPA modérée · HPA non PCU · Hyperphénylalaninémie modérée permanente · Non-PKU HPA · mHPA |
| de | Hyperphenylalaninämie, milde | Milde HPA · Non-PKU HPA · mHPA |
| es | Hiperfenilalaninemia leve | HPA leve · HPA no PKU · mHPA |
| it | Iperfenilalaninemia lieve | HPA lieve · HPA non-PKU · mHPA |
| nl | Milde hyperfenylalaninemie | Milde HPA · Niet-PKU HPA · mHPA |
| pt | Hiperfenilalaninemia ligeira | HPA ligeira · HPA não-PKU · mHPA |
| pl | Hiperfenylalaninemia łagodna | Łagodna HPA · mHPA · Non-PKU HPA |
| cs | Mírná hyperfenylalaninémie | Mírná HPA · Non-PKU HPA · mHPA |
| uk | Легка гіперфенілаланінемія | mHPA · Мяка ГФА · Не-ФКУ ГФА |
| zh | 轻型高苯丙氨酸血症 | = en |
| tr | Hafif hiperfenilalaninemi | mHPA · Hafif HPA · PKU olmayan HPA |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261600 | NTBT | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.0Y | NTBT | index | validated |
| MONDO | 0019335 | E | validated | |
| UMLS | C5680207 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:708881Phenylalanine hydroxylase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79651
- This record as JSON: /data/d/79651.json