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variegate porphyria

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.
Uniprot Description A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease.
Mondo Term and Equivalent IDs
MONDO:0008297:  variegate porphyria
GARD:0007848: 
MESH:D046350: 
NCIT:C85219: 
Orphanet:79473: 
SCTID:58275005: 
UMLS:C0162532: