Variegate Porphyria

Alternative Names

  • VP
  • Porphyria Variegata
  • Porphyria, South African Type
  • Protoporphyrinogen Oxidase Deficiency
  • PPOX Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

176200

Gene Map Locus

1q23.3,6p22.2

Description

Variegate porphyria is characterized by cutaneous manifestations, including increased photosensitivity, blistering, skin fragility with chronic scarring of sun-exposed areas, and postinflammatory hyperpigmentation. Acute exacerbations of VP include abdominal pain, the passage of dark urine, and neuropsychiatric symptoms that characterize the acute hepatic porphyrias, such as bulbar paralysis, quadriplegia, motor neuropathy, and weakness of the limbs. In heterozygotes, PPOX activity is decreased by about 50%. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
176200.1.1LebanonFemaleYesYes Severe photosensitivity; Seizure; Neur...NM_000309.5:c.1015G>AHomozygousAutosomal, RecessiveAl-Hage et al. 2020 Other affected relat...
176200.1.2LebanonMaleYesYes Severe photosensitivity; Seizure; Neur...NM_000309.5:c.1015G>AHomozygousAutosomal, RecessiveAl-Hage et al. 2020 Maternal uncle of 17...
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