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Medical genetics. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [1][2] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and ...
Aceruloplasminemia. Atransferrinemia. Hereditary haemochromatosis type 1 (HFE-related haemochromatosis) [3] is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. [4] Humans, like most animals, have no mechanism to regulate excess iron, simply ...
Complete trisomy 8 causes severe abnormalities on the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]
Polycystic kidney disease. Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder [ 5 ][ 6 ] in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. [ 7 ] These cysts may begin to develop in utero, in infancy, in ...
17q12 microdeletion syndrome. 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome.
Alström syndrome (AS), also called Alström–Hallgren syndrome, [1] is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy.
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