MODY 8 syndrome (Q102323): 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. CEL tem sido descrito associado a forma de diabetes que tem sido caracterizada como ''MODY8'' por OMIM. É muito rara e até o momento foram reportadas apenas 5 famílias. Está associada a disfunção do pâncreas exócrino. | |||
| 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. CEL has been associated with a form of diabetes that has been characterised as "MODY8" by OMIM. It is very rare with five families reported to date. It is associated with exocrine pancreatic dysfunction. | |||
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. CEL has been associated with a form of diabetes that has been characterised as "MODY8" by OMIM. It is very rare with five families reported to date. It is associated with exocrine pancreatic dysfunction.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_205210166 |
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| English | MODY 8 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. CEL has been associated with a form of diabetes that has been characterised as "MODY8" by OMIM. It is very rare with five families reported to date. It is associated with exocrine pancreatic dysfunction. |
