ORPHA:79277
Congenital erythropoietic porphyria
Synonyms: CEP · Günther disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital erythropoietic porphyria | CEP · Günther disease |
| fr | Porphyrie érythropoïétique congénitale | CEP · Maladie de Günther |
| de | Porphyrie, erythropoetische kongenitale | CEP · Günther-Krankheit |
| es | Porfiria eritropoyética congénita | CEP · Enfermedad de Günther |
| it | Porfiria eritropoietica congenita | CEP · Malattia di Günther |
| nl | Congenitale erytropoëtische porfyrie | CEP · Ziekte van Günther |
| pt | Porfiria eritropoiética congénita | |
| pl | Wrodzona porfiria erytropoetyczna | CEP · Choroba Günthera |
| cs | Vrozená erytropoetická porfyrie | CEP · Güntherova choroba |
| uk | Вроджена еритропоетична порфірія | CEP · Хвороба Гюнтера |
| zh | 先天性红细胞生成性卟啉病 | Günther病 |
| tr | Doğumsal eritropoietik porfiri | CEP · Günther hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263700 | E | validated | |
| ICD-10 | E80.0 | NTBT | inclusion | validated |
| ICD-11 | 5C58.12 | NTBT | index | validated |
| MONDO | 9902 | E | validated | |
| MeSH | D017092 | E | validated | |
| UMLS | C5886774 | E | validated | |
| GARD | 4446 | 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 (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.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UROS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12592 | ENSG00000188690 | 606938 | 10q26.2 | uroporphyrinogen III synthase | 24027798[PMID] |
| GATA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 | 24027798[PMID]_17148589[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Annual incidence | <1 / 1 000 000 | 0.065 / 100 000 | Europe | Value and class | Not yet validated | 23114748[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
50 annotations · validated 2021-05-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0010472 | Abnormal circulating porphyrin concentration | |
| HP:0001030 | Fragile skin | |
| HP:0012187 | Increased erythrocyte protoporphyrin concentration | |
| HP:0500115 | Increased stool urobilinogen concentration | |
| HP:0012217 | Increased urinary porphobilinogen | |
| HP:0010473 | Porphyrinuria | |
| HP:0007537 | Severe photosensitivity | |
| Frequent (79-30%) | ||
| HP:0030756 | Erythrodontia | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0033009 | Increased fecal coproporphyrin 1 | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0040322 | Purple urine | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0040320 | Red-brown urine | |
| HP:0100699 | Scarring | |
| HP:0200041 | Skin erosion | |
| HP:0001072 | Thickened skin | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001560 | Abnormality of the amniotic fluid | |
| HP:0011273 | Anisocytosis | |
| HP:0012804 | Corneal ulceration | |
| HP:0000656 | Ectropion | |
| HP:0012132 | Erythroid hyperplasia | |
| HP:0002219 | Facial hypertrichosis | |
| HP:0001878 | Hemolytic anemia | |
| HP:0009025 | Increased connective tissue | |
| HP:0001882 | Leukopenia | |
| HP:0011457 | Loss of eyelashes | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0004447 | Poikilocytosis | |
| HP:0020181 | Reduced haptoglobin level | |
| HP:0001923 | Reticulocytosis | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0000969 | Edema | |
| HP:0001096 | Keratoconjunctivitis | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0002797 | Osteolysis | |
| HP:0003401 | Paresthesia | |
| HP:0000989 | Pruritus | |
| HP:0100532 | Scleritis | |
| HP:0500046 | Seborrhoeic blepharitis | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 28329491[PMID]_24027798[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79277
- This record as JSON: /data/d/79277.json