HNF1β-related MODY is one of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of<unk>  disease. HNF1β, also known as transcription factor 2 (TCF2), is involved in early stages of embryonic development of several organs, including the pancreas, where it contributes to differentiation of pancreatic endocrine Ngn3+ cell progenitors from non-endocrine embryonic duct cells. The gene is on chromosome 17q. The degree of insulin deficiency is variable.<unk>  can develop from infancy through middle adult life, and some family members who carry the gene remain free of<unk>  into later adult life. Most of those who develop<unk>  show atrophy of the entire pancreas, with mild or subclincal deficiency of exocrine as well as endocrine function. The non-pancreatic manifestations are even more variable. Kidney and genitourinary malformation and diseases may occur, but inconsistently even within a family, and the specific conditions include a range of apparently unrelated anomalies and processes. The most common genitourinary condition is<unk> c kidney disease, but there are many varieties even of this.<unk>  effects begin with structural alterations (small kidneys,<unk><unk> , anomalies of the<unk>  pelvis and calices), but a significant number develop slowly progressive chronic kidney failure associated with chronic<unk> c disease of the kidneys. In some cases,<unk><unk>  may be detected in utero. Kidney disease may develop before or after hyperglycemia, and a significant number of people with MODY5 are discovered in<unk>  clinics. With or without kidney disease, some people with forms of HNF1β have had various minor or major anomalies of the reproductive system. Male defects have included epididymal<unk> , agenesis of the vas deferens, or infertility due to abnormal spermatozoa. Affected women have been found to have vaginal agenesis, hypoplastic, or bicornuate uterus. Liver enzyme elevations are common, but clinically significant liver disease is not. Hyperuricaemia and early onset gout have occurred.
Renal cysts and diabetes syndrome
Nelson's syndrome
Waltman Walter syndrome
Medullary sponge kidney
Jones syndrome
Foerster's syndrome
Mendelson's syndrome
Polycystic kidney disease