" /> MODY 5 syndrome - CISMeF





Preferred Label : MODY 5 syndrome;

ICD-11 definition : 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. One of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of renal disease. Defect in HNF-1 beta gene. 5%–10% cases.;

ICD-11 synonym : RCAD - [renal cyst and diabetes syndrome]; Renal dysfunction - early-onset diabetes; ADTKD - [Autosomal Dominant Tubulointerstitial Kidney Disease] -HNF1B; Renal diabetes MODY 5 syndrome; Renal cysts - Maturity-Onset Diabetes of the Young type 5 syndrome; renal cyst and diabetes syndrome; Maturity Onset Diabetes of the Young type 5; Microdeletion 17q11.2;

ICD-11 acronym : RCAD; ADTKD -HNF1B;

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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. One of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of renal disease. Defect in HNF-1 beta gene. 5%–10% cases.

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17/06/2024


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