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PORPHYRIA CUTANEA TARDA, TYPE II (HEP)

PORPHYRIA CUTANEA TARDA, TYPE II (HEP)
HEPATOERYTHROPOIETIC PORPHYRIA
176100
OMIM = Online Mendelian Inheritance of Men
101330
uroporphyrinogen decarboxylase
4.1.1.37
1q34.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E80.1
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