X-linked erythropoietic protoporphyria
An erythropoietic protoporphyria in which the cause of the disease is a hemizygous, heterozygous, or homozygous (rare) gain-of-function (GOF) variant (X-linked inheritance pattern) in the terminal regulatory exon of ALAS2. GOF variants increase ALAS2 activity resulting in pathway upregulation and high levels of protoporphyrin IX (PPIX). Males with hemizygous variants frequently present in early childhood with severe cutaneous photosensitivity and laboratory markers of liver disease. Heterozygous females can present with symptoms ranging from as severe as affected males to asymptomatic due to random X-chromosome inactivation. This disease is clinically indistinguishable from FECH-related erythropoietic protoporphyria.
MONDO:0000425
X-linked disease
is_a
MONDO:0001676
erythropoietic protoporphyria
is_a
ALAS2-related erythropoietic protoporphyria
exact
X-linked dominant erythropoietic protoporphyria
exact
X-linked dominant protoporphyria
exact
XLDPP
exact
XLEPP
related
XLP
related
XLPP
exact
erythropoietic protoporphyria, X-linked
exact
protoporphyria, erythropoietic, X-linked
related
SPAC2F3.09