MODY 4 syndrome (Q102312): Difference between revisions
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Isso se refere a uma forma hereditária de diabetes causada por mutações em um gene autossômico dominante (independente do sexo, ou seja, herdado de qualquer um dos pais), interrompendo a produção de insulina. Causado por mutações do gene homeobox IPF1 (Pdx1) e representa <1% dos casos de MODY. Associa-se com agenesia de pâncreas em homozigotos e ocasionalmente em heterozigotos. | |||
| description / en | description / en | ||
This refers to the hereditary form of diabetes caused by mutations in an autosomal dominant gene (sex independent, i.e. inherited from any of the parents) disrupting insulin production. Mutations of the IPF1 homeobox (Pdx1) gene. < 1% cases. Associated with pancreatic agenesis in homozygotes and occasionally in heterozygotes. | |||
Revision as of 19:15, 16 August 2026
This refers to the hereditary form of diabetes caused by mutations in an autosomal dominant gene (sex independent, i.e. inherited from any of the parents) disrupting insulin production. Mutations of the IPF1 homeobox (Pdx1) gene. < 1% cases. Associated with pancreatic agenesis in homozygotes and occasionally in heterozygotes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_679107840 |
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| English | MODY 4 syndrome |
This refers to the hereditary form of diabetes caused by mutations in an autosomal dominant gene (sex independent, i.e. inherited from any of the parents) disrupting insulin production. Mutations of the IPF1 homeobox (Pdx1) gene. < 1% cases. Associated with pancreatic agenesis in homozygotes and occasionally in heterozygotes. |
