Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Hepatoerythropoietic porphyria
Hepatoerythropoietic porphyria
Подписчиков: 0, рейтинг: 0
Hepatoerythropoietic porphyria | |
---|---|
Other names | HEP |
UroD drawn from PDB: 1URO. | |
Specialty | Dermatology, gastroenterology, medical genetics, endocrinology |
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).
It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.
See also
- Hereditary coproporphyria
- List of cutaneous conditions
- List of dental abnormalities associated with cutaneous conditions
External links
Classification | |
---|---|
External resources |
- Hepatoerythropoietic porphyria at NLM Genetics Home Reference
- Hepatoerythropoietic porphyria at NIH's Office of Rare Diseases
Heme metabolism disorders
| |||||||
---|---|---|---|---|---|---|---|
Porphyria, hepatic and erythropoietic (porphyrin) |
|
||||||
Hereditary hyperbilirubinemia (bilirubin) |
|