PORPHYRIA VARIEGATA (VP)

Question 1

What is  PORPHYRIA VARIEGATA (VP)?

Accepted Answer

rare
autosomal dominant

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Porphyria variegata; Protoporphyrinogen-Oxidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 176200

Question 4

Which enzymes are involved?

Accepted Answer

Protoporphyrinogen oxidase, Hereditary hemochromatosis protein

Disease	PORPHYRIA VARIEGATA (VP)
Synonym	VARIEGATE PORPHYRIA
OMIM	176200 OMIM = Online Mendelian Inheritance of Men
Orphanet	79473
Protein (UniProt)	Protoporphyrinogen oxidase, Hereditary hemochromatosis protein
ExPASy	1.3.3.4
Gene locus	1q23.3, 6p22.2
ICD	E80.2
Summary	rare autosomal dominant
Laboratory findings	Porphobilinogen (PBG) inc (urine) 5-Aminolevulinic acid inc (urine) Magnesium normal/dec (plasma) Porphyrins inc (urine) Porphyrins inc (plasma) Porphyrins inc (fecal) Sodium dec (serum)
Symptoms	hypertension pain, muscle coma constipation ileus nausea onset, adolescent pain, abdominal peripheral neuropathy photophobia or photosensitive defect in light-exposed area psychosis red colored urine seizures skin defects tachykardia urine color, abnormal vomiting