ORPHA:280379
Erythropoietic uroporphyria associated with myeloid malignancy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythropoietic uroporphyria associated with myeloid malignancy | |
| fr | Uroporphyrie érythropoïétique associée à une tumeur maligne myéloïde | |
| de | Uroporphyrie, erythropoetische, mit assoziierter myeloischer Neoplasie | |
| es | Uroporfiria eritropoyética asociada a neoplasias mieloides | |
| it | Uroporfiria eritropoietica associata al tumore mieloide maligno | |
| nl | Erytropoëtische uroporfyrie geassocieerd met myeloïde maligniteiten | |
| pt | Uroporfiria eritropoiética associada a malignidade mielóide | |
| pl | Uroporfiria erytropoetyczna związana z nowotworem złośliwym szpiku | |
| cs | Erytropoetická uroporfyrie asociovaná s myeloidními malignitami | |
| uk | Еритропоетична уропорфірія, асоційована зі злоякісними мієлоїдними пухлинами | |
| zh | 与髓系恶性肿瘤相关的红细胞生成性尿卟啉症 | |
| tr | Miyeloid malignite ilişkili eritropoietik üroporfiri |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E80.2 | NTBT | attributed | validated |
| ICD-11 | EB90.3Y | NTBT | attributed | validated |
| MONDO | 0017231 | E | validated | |
| UMLS | C5191004 | E | validated | |
| GARD | 10948 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:659681Erythropoietic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare renal diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | 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.
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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/280379
- This record as JSON: /data/d/280379.json