ORPHA:69723
Tyrosinemia type 3
Synonyms: Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency · Tyrosinemia due to HPD deficiency · Tyrosinemia type III
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tyrosinemia type 3 | Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency · Tyrosinemia due to HPD deficiency · Tyrosinemia type III |
| fr | Tyrosinémie type 3 | Tyrosinémie par déficit en 4-hydroxyphénylpyruvate dioxygénase · Tyrosinémie par déficit en HPD · Tyrosinémie par déficit en acide 4-hydroxyphénylpyruvique oxydase · Tyrosinémie type III |
| de | Tyrosinämie Typ 3 | Tyrosininämie Typ III · Tyrosinämie durch 4-Hydroxyphenylpyruvat-Dioxygenase-Mangel |
| es | Tirosinemia tipo 3 | Tirosinemia por deficiencia de 4-hidroxifenilpiruvato dioxigenasa · Tirosinemia por deficiencia de HPD · Tirosinemia por deficiencia de la oxidasa del ácido 4-hidroxifenilpiruvico · Tirosinemia tipo III |
| it | Tirosinemia, tipo 3 | Tirosinemia da deficit di 4-idrossifenilpiruvato diossigenasi · Tirosinemia da deficit di HPD · Tirosinemia da deficit di acido 4-idrossifenilpiruvico ossidasi · Tirosinemia, tipo III |
| nl | Tyrosinemie type 3 | Tyrosinemie door HPD-deficiëntie · Tyrosinemie door deficiëntie van 4-hydroxyfenylpyrodruivenzuur-oxidase · Tyrosinemie door deficiëntie van 4-hydroxyfenylpyruvaatdioxygenase · Tyrosinemie type III |
| pt | Tirosinemia tipo III | Deficiência de 4-hidroxifenilpiruvato dioxigenase · Deficiência de ácido 4-hidroxifenilpiruvico oxidase |
| pl | Tyrozynemia typu 3 | Tyrozynemia spowodowana niedoborem dioksygenazy 4-hydroksyfenylopirogronianu · Tyrozynemia spowodowana niedoborem HPD · Tyrozynemia spowodowana niedoborem oksydazy kwasu 4-hydroksyfenylopirogronowego · Tyrozynemia typu III |
| cs | Tyrosinémie, typ 3 | Tyrosinémie typu III · Tyrosinémie způsobená deficitem 4-hydroxyfenypyruvátdioxygenázy · Tyrosinémie způsobená deficitem oxidázy kyseliny 4-hydroxyfenylpyrohroznové · Tyrosinémie způsobená deficitem HPD |
| uk | Тирозинемія типу 3 | Тирозинемія внаслідок дефіциту 4-гідроксифенілпіруватдіоксигенази · Тирозинемія внаслідок дефіциту оксидази 4-гідроксифенілпіровиноградної кислоти · Тирозинемія внаслідок дефіциту HPD · Тирозинемія III типу |
| zh | 酪氨酸血症3型 | 4-羟基苯丙酮酸氧化酶缺乏所致酪氨酸血症 |
| tr | Tirozinemi tip 3 | Tirozinemi tip III · HPD eksikliğine bağlı tirozinemi · 4-hidroksifenilpiruvat dioksijenaz eksikliğine bağlı tirozinemi · 4-hidroksifenilpirüvik asit oksidaz eksikliğine bağlı tirozinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276710 | E | validated | |
| ICD-10 | E70.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.1Y | NTBT | index | validated |
| MONDO | 0010162 | E | validated | |
| UMLS | C0268623 | E | validated | |
| GARD | 10332 | E | validated | |
| MedDRA | 10069461 | 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:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5147 | ENSG00000158104 | 609695 | 12q24.31 | 4-hydroxyphenylpyruvate dioxygenase | 10942115[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
6
HPO phenotypes
19 annotations · validated 2026-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003637 | Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity | |
| Very frequent (99-80%) | ||
| HP:0003231 | Hypertyrosinemia | |
| Frequent (79-30%) | ||
| HP:0003161 | 4-Hydroxyphenylpyruvic aciduria | |
| HP:0003607 | 4-hydroxyphenylacetic aciduria | |
| HP:6001004 | Elevated urine hydroxyphenyllactic acid level | |
| HP:0001249 | Intellectual disability | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0007879 | Allergic conjunctivitis | |
| HP:0001251 | Ataxia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:6000479 | Elevated urine N-acetyltyrosine level | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0000613 | Photophobia | |
| HP:0001328 | Specific learning disability | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0000501 | Glaucoma | |
| Excluded (0%) | ||
| HP:6000598 | Elevated urinary succinylacetone level | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 41064053[PMID]_37817461[PMID]_35707594[PMID]_32520295[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69723
- This record as JSON: /data/d/69723.json