cutaneous porphyria
An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms.
MONDO:0003689
familial hemolytic anemia
is_a
MONDO:0019142
inherited porphyria
is_a
MONDO:0020585
anemia due to erythrocyte enzyme disorder
is_a
CEP
exact
Congenital Erythropoietic Porphyria
exact
Günther disease
exact
UROS-related erythropoietic porphyria
exact
congenital porphyria
related
cutaneous porphyria
exact
erythropoietic porphyria
exact
uroporphyrinogen III synthase, deficiency of
related
SPAC31G5.08