Harderoporphyria is a rare disorder of heme biosynthesis, inherited in an autosomal recessive manner caused by specific mutations in the CPOX gene. Mutations...
5 KB (446 words) - 05:09, 3 December 2023
a null allele in CPOX have a more severe erythropoietic porphyria, harderoporphyria, characterized by neonatal jaundice, hyperbilirubinemia, hepatosplenomegaly...
13 KB (1,340 words) - 19:09, 27 January 2022
terms of the molecular basis of HCP and harderoporphyria, mutations of CPOX in patients with harderoporphyria were demonstrated in the region of exon...
18 KB (2,088 words) - 09:33, 12 February 2024
dominant Photosensitivity, neurologic symptoms, colic 1 in 500,000 Harderoporphyria coproporphyrinogen oxidase (CPOX) Erythropoietic Autosomal recessive...
64 KB (6,616 words) - 16:14, 3 August 2024
Carboxypeptidase N subunit 2 CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria) DPPA2: Developmental pluripotency associated 2 DTX3L: encoding protein...
34 KB (1,980 words) - 02:40, 11 August 2024
Hallermann–Streiff syndrome; 234100; GJA1 Hand-foot-uterus Syndrome; 140000; HOXA13 Harderoporphyria; 121300; CPOX HARP syndrome; 607236; PANK2 Hartnup disorder; 234500;...
234 KB (18,877 words) - 15:43, 9 May 2024