ORPHA:79278
Autosomal erythropoietic protoporphyria
Synonyms: EPP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal erythropoietic protoporphyria | EPP |
| fr | Protoporphyrie érythropoïétique autosomique | = en |
| de | Protoporphyrie, erythropoetische, autosomale Form | = en |
| es | Protoporfiria eritropoyética autosómica | PPE |
| it | Protoporfiria eritropoietica autosomica | = en |
| nl | Autosomale erytropoëtische protoporfyrie | EPP · Erythropoietische protoporfyrie |
| pt | Protoporfiria eritropoiética autossómica | = en |
| pl | Autosomalna protoporfiria erytropoetyczna | = en |
| cs | Autozomální erytropoetická protoporfyrie | = en |
| uk | Аутосомна еритропоетична протопорфірія | = en |
| zh | 常染色体遗传红细胞生成性原卟啉病 | = en |
| tr | Otozomal eritropoietik protoporfiri | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177000 | E | validated | |
| ICD-10 | E80.0 | NTBT | inclusion | validated |
| ICD-11 | 5C58.12 | NTBT | index | validated |
| MONDO | 0019263 | E | validated | |
| MeSH | D046351 | E | validated | |
| UMLS | C0162568 | E | validated | |
| GARD | 4527 | E | validated | |
| MedDRA | 10015289 | 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:659681Erythropoietic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare renal diseases - ORPHA:98369Rare constitutional hemolytic anemia due to an enzyme disorder
rare genetic diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FECH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3647 | ENSG00000066926 | 612386 | 18q21.31 | ferrochelatase | 23016163[PMID] |
5
Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.012 / 100 000 | Europe | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.92 / 100 000 | Europe | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.006 / 100 000 | France | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.46 / 100 000 | France | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.007 / 100 000 | Italy | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.62 / 100 000 | Ireland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Netherlands | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.54 / 100 000 | Italy | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.036 / 100 000 | Norway | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.39 / 100 000 | Netherlands | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.003 / 100 000 | Poland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.77 / 100 000 | Norway | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.003 / 100 000 | Spain | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Poland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Sweden | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.23 / 100 000 | Spain | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.035 / 100 000 | Switzerland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.39 / 100 000 | Sweden | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.033 / 100 000 | United Kingdom | Value and class | Validated | 17994169[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.7 / 100 000 | Switzerland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.54 / 100 000 | United Kingdom | Value and class | Validated | 17994169[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.75 / 100 000 | Slovenia | Value and class | Validated | 23114748[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010472 | Abnormal circulating porphyrin concentration | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0010783 | Erythema | |
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0001081 | Cholelithiasis | |
| HP:0001394 | Cirrhosis | |
| HP:0001410 | Decreased liver function | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000969 | Edema | |
| HP:0001935 | Microcytic anemia | |
Run the differential on the 4 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79278
- This record as JSON: /data/d/79278.json