Homozygous variegate porphyria (Q96984): Difference between revisions
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Esta doença, uma variante muito rara da porfiria variegata, é uma doença cutânea e neurológica grave que se manifesta na primeira infância e caracterizada por níveis marcadamente reduzidos da penúltima enzima na via biossintética do heme, protoporfirinogênio oxidase. A porfiria variegata é geralmente herdada como um traço autossômico dominante, exibindo penetrância incompleta, pois nem todas as pessoas portadoras de uma mutação no gene da protoporfirinogênio oxidase desenvolvem o fenótipo clínico. Alguns dos casos de porfiria variegata "homozigótica" seriam heterozigotos compostos para diferentes mutações de sentido incorreto em vez de homozigotos verdadeiros. | |||
| description / en | description / en | ||
This disease, a very rare variant of variegate porphyria, is a severe skin and neurologic disease manifesting in early infancy, and characterised by markedly reduced levels of the penultimate enzyme in the heme biosynthetic pathway, protoporphyrinogen oxidase. Variegate porphyria is usually inherited as an autosomal dominant trait, displaying incomplete penetrance, as not all persons carrying a mutation in protoporphyrinogen oxidase gene develop the clinical phenotype. Some of the cases of "homozygous" variegate porphyria would be compound heterozygotes for different missense mutations rather than true homozygotes. | |||
Revision as of 13:01, 16 August 2026
This disease, a very rare variant of variegate porphyria, is a severe skin and neurologic disease manifesting in early infancy, and characterised by markedly reduced levels of the penultimate enzyme in the heme biosynthetic pathway, protoporphyrinogen oxidase. Variegate porphyria is usually inherited as an autosomal dominant trait, displaying incomplete penetrance, as not all persons carrying a mutation in protoporphyrinogen oxidase gene develop the clinical phenotype. Some of the cases of "homozygous" variegate porphyria would be compound heterozygotes for different missense mutations rather than true homozygotes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1624017024 |
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| English | Homozygous variegate porphyria |
This disease, a very rare variant of variegate porphyria, is a severe skin and neurologic disease manifesting in early infancy, and characterised by markedly reduced levels of the penultimate enzyme in the heme biosynthetic pathway, protoporphyrinogen oxidase. Variegate porphyria is usually inherited as an autosomal dominant trait, displaying incomplete penetrance, as not all persons carrying a mutation in protoporphyrinogen oxidase gene develop the clinical phenotype. Some of the cases of "homozygous" variegate porphyria would be compound heterozygotes for different missense mutations rather than true homozygotes. |
