PORPHYRIA CUTANEA TARDA, TYPE II (HEP)

Question 1

What is  PORPHYRIA CUTANEA TARDA, TYPE II (HEP)?

Accepted Answer

rare (1^:5000 - 1:25000)
autosomal dominant
autosomal recessive
- type I (MIM 176090), sporadic type
- type II (MIM 176100), familial type
indistinguishable from from congenital erythropoietic porphyria There is an association of PCT with haemochromatosis, diabetes mellitus and hepatitis C infection [Kostler 2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Porphyria cutanea tarda (PCT)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 176100

Question 4

Which enzymes are involved?

Accepted Answer

uroporphyrinogen decarboxylase

Disease	PORPHYRIA CUTANEA TARDA, TYPE II (HEP)
Synonym	HEPATOERYTHROPOIETIC PORPHYRIA
OMIM	176100 OMIM = Online Mendelian Inheritance of Men
Orphanet	101330
Protein (UniProt)	uroporphyrinogen decarboxylase
ExPASy	4.1.1.37
Gene locus	1q34.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Uroporphyrinogen decarboxylase
ICD	E80.1
Summary	rare (1^:5000 - 1:25000) autosomal dominant autosomal recessive - type I (MIM 176090), sporadic type - type II (MIM 176100), familial type indistinguishable from from congenital erythropoietic porphyria There is an association of PCT with haemochromatosis, diabetes mellitus and hepatitis C infection [Kostler 2005]
Laboratory findings	Porphyrins inc (fecal) Porphyrins inc (erythrocytes) Porphyrins inc (urine) Porphyrins inc (plasma) Uroporphyrinogen decarboxylase dec (erythrocytes)
Symptoms	alopecia anemia cirrhosis or fibrosis of liver erythrodontia hyperpigmentation hypertrichosis onset, adulthood onset, childhood onset, infancy photophobia or photosensitive defect in light-exposed area red colored urine skin defects splenomegaly (large spleen) urine color, abnormal