Hawkinsinuria
Synonyms: 4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency · 4-hydroxyphenylpyruvic acid dioxygenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hawkinsinuria | 4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency · 4-hydroxyphenylpyruvic acid dioxygenase deficiency |
| fr | Hawkinsinurie | Déficit en 4-HPPD · Déficit en 4-alpha-hydroxyphénylpyruvate hydroxylase · Déficit en 4-hydroxyphénylpyruvate dioxygénase |
| de | Hawkinsinurie | 4-HPPD-Mangel · 4-alpha-Hydroxyphenylpyruvat- Hydroxylase-Mangel · 4-alpha-Hydroxyphenylpyruvat-Dioxygenase-Mangel |
| es | Hawkinsinuria | Deficiencia de 4-alfa-hidroxifenilpiruvato hidroxilasa |
| it | Hawkinsinuria | Deficit di 4-alfa-idrossifenilpiruvato idrossilasi |
| nl | Hawkinsinurie | 4-HPPD-deficiëntie · Deficiëntie van 4-alfa-hydroxyfenylpyruvaat-hydroxylase · Deficiëntie van 4-hydroxyfenylpyrodruivenzuur-dioxygenase |
| pt | Hawkinsinúria | Deficiência de 4-alfa-hidroxifenilpiruvato hidroxilase |
| pl | Hawkinsinuria | Niedobór 4-HPPD · Niedobór dioksygenazy kwasu 4-hydroksyfenylpirogronowego · Niedobór hydroksylazy 4-alfa- hydroksyfenylpirogronianowej |
| cs | Hawkinsinurie | Deficit 4-HPPD · Deficit 4-alfa-hydroxyfenylpyruvát hydroxylázy |
| uk | Хокінсінурія | Дефіцит 4-альфа-гідроксифенілпіруват гідроксилази · Дефіцит 4-HPPD · Дефіцит 4-гідроксифенілпіровиноградної кислоти диоксигенази |
| zh | Hawkinsinuria症 | 4-α-羟基苯丙酮酸羟化酶缺乏症 |
| tr | Hawkinsinüri | 4-HPPD eksikliği · 4-hidroksifenilpirüvik asit dioksijenaz eksikliği · 4-alfa-hidroksifenilpiruvat hidroksilaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 140350 | E | validated | |
| ICD-10 | E70.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.1Y | NTBT | index | validated |
| MONDO | 0007700 | E | validated | |
| MeSH | C535845 | E | validated | |
| UMLS | C2931042 | E | validated | |
| GARD | 5668 | 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:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPD | Candidate gene tested in | Not yet assessed | HGNC:5147 | ENSG00000158104 | 609695 | 12q24.31 | 4-hydroxyphenylpyruvate dioxygenase | 11073718[PMID]_17560158[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 11073718[PMID] |
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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003161 | 4-Hydroxyphenylpyruvic aciduria | |
| HP:0003607 | 4-hydroxyphenylacetic aciduria | |
| HP:0010917 | Abnormality of tyrosine metabolism | |
| HP:0001508 | Failure to thrive | |
| HP:0002213 | Fine hair | |
| HP:0001942 | Metabolic acidosis | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0001252 | Hypotonia | |
| Occasional (29-5%) | ||
| HP:0000821 | Hypothyroidism | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2118
- This record as JSON: /data/d/2118.json