ORPHA:738
Porphyria
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porphyria | |
| fr | Porphyrie | |
| de | Porphyrie | |
| es | Porfiria | |
| it | Porfiria | |
| nl | Porfyrie | |
| pt | Porfiria | Coproporfiria hereditária · Protoporfiria eritropoiética |
| pl | Porfiria | |
| cs | Porfyrie | |
| uk | Порфірія | |
| zh | 卟啉病 | |
| tr | Porfiri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E80.1 | BTNT | specific | validated |
| ICD-10 | E80.2 | BTNT | specific | validated |
| ICD-11 | 5C58.1 | E | specific | validated |
| MONDO | 19142 | E | validated | |
| MeSH | D011164 | E | validated | |
| UMLS | C5848305 | E | validated | |
| GARD | 10353 | E | validated | |
| MedDRA | 10036181 | 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 (5):
- ORPHA:309813Disorder of porphyrin and heme metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:79387Metabolic disease with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:79390Rare photodermatosis
rare skin diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5.25 / 100 000 | Worldwide | Value and class | Not yet validated | 15652607[PMID]_ORPHANET |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.7 / 100 000 | Japan | Value and class | Validated | 15239394[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.52 / 100 000 | Denmark | Value and class | Validated | 27139922[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/738
- This record as JSON: /data/d/738.json