MODY 1 syndrome (Q102303): 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), devido a defeitos secreção de insulina. Esta forma é devida a uma mutação de perda de função no gene HNF4α e representa 5% –10% dos casos de MODY. | |||
| 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. This form is due to a loss-of-function mutation in the HNF4? gene. 5%–10% cases. | |||
Revision as of 19:14, 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. This form is due to a loss-of-function mutation in the HNF4? gene. 5%–10% cases.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_289825291 |
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| English | MODY 1 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. This form is due to a loss-of-function mutation in the HNF4? gene. 5%–10% cases. |
