Harderoporphyria (Q97001): Difference between revisions
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Forma rara de variante eritropoiética de coproporfiria hereditária é caracterizada por hiperbilirrubinemia neonatal e anemia hemolítica, hepatoesplenomegalia e, às vezes, fotossensibilidade. Várias famílias com harderoporfiria foram relatadas. A análise molecular indica que uma anormalidade no gene da coproporfirinogênio oxidase, K404E, foi única para esta doença. | |||
| description / en | description / en | ||
This rare erythropoietic variant form of hereditary coproporphyria is characterised by neonatal hyperbilirubinemia and haemolytic anaemia, hepatosplenomegaly, and sometimes photosensitivity. Several families with harderoporphyria have been reported. Molecular analysis indicates that a coproporphyrinogen oxidase gene abnormality, K404E, was unique for this disease. | |||
Revision as of 13:02, 16 August 2026
This rare erythropoietic variant form of hereditary coproporphyria is characterised by neonatal hyperbilirubinemia and haemolytic anaemia, hepatosplenomegaly, and sometimes photosensitivity. Several families with harderoporphyria have been reported. Molecular analysis indicates that a coproporphyrinogen oxidase gene abnormality, K404E, was unique for this disease.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1664486132 |
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| English | Harderoporphyria |
This rare erythropoietic variant form of hereditary coproporphyria is characterised by neonatal hyperbilirubinemia and haemolytic anaemia, hepatosplenomegaly, and sometimes photosensitivity. Several families with harderoporphyria have been reported. Molecular analysis indicates that a coproporphyrinogen oxidase gene abnormality, K404E, was unique for this disease. |
