Congenital erythropoietic porphyria (Q55703): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A porfiria eritropoiética congênita, ou doença de Günther, é uma doença autossômica recessiva rara devido a mutações no gene que codifica a uroporfirinogênio III sintase. Isso resulta no acúmulo de porfirinas anormais nos eritrócitos e se manifesta como fotossensibilidade muito grave e mutiladora. | |||
| description / en | description / en | ||
Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity. | |||
Revision as of 03:22, 14 August 2026
Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1935084712 |
||
| English | Congenital erythropoietic porphyria |
Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity. |
