Harderoporphyria (Q97001)

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
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.