Acute hepatic porphyria
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute hepatic porphyria | |
| fr | Porphyrie hépatique aiguë | |
| de | Porphyrie, akute hepatische | |
| es | Porfiria hepática aguda | |
| it | Porfiria epatica acuta | |
| nl | Acute hepatische porfyrie | |
| pt | Porfiria hepática aguda | |
| pl | Ostra porfiria wątrobowa | |
| cs | Akutní jaterní porfyrie | |
| uk | Гостра печінкова порфірія | |
| zh | 急性肝卟啉症 | |
| tr | Akut hepatik porfiri |
Definition in:
Cross-references
qualifier = Orphanet mapping relationE 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 (3):
- ORPHA:659694Hepatic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare skin diseases; rare renal diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | 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/95157
- This record as JSON: /data/d/95157.json