... Arg3277Cys Hypomorphic allele (See Genotype-Phenotype Correlations .) ... of nomenclature. Chapter Notes Author ...

... 15 December 2022 (aa) Revision: added IFT140 -related autosomal dominant polycystic kidney disease to ... References Literature Cited Ackah RL, Yoeli D, Kueht M, ...

... UMOD have had proteinuria; however, this is uncharacteristic. Autosomal dominant polycystic kidney disease. If the urinary sediment is bland (i.e., ... in an autosomal dominant manner, one must exclude autosomal dominant polycystic kidney disease (ADPKD), in which a large number of cysts ...

... in individuals with heterozygous PKHD1 pathogenic variants (see Autosomal Dominant Polycystic Kidney Disease ). Differential Diagnosis Autosomal recessive polycystic kidney disease (ARPKD) ...

... al [2019] ; Armstrong & Thomas [2019] ; Polycystic Kidney Disease, Autosomal Dominant ; Polycystic Kidney Disease, Autosomal Recessive ; and Nephronophthisis AD = autosomal dominant; ADPKD = ...

... both TSC caused by deletion of TSC2 and autosomal dominant polycystic kidney disease (ADPKD) caused by deletion of PKD1 . In these ... phenotype of tuberous sclerosis complex (TSC) and severe autosomal dominant polycystic kidney disease is usually evident in utero or is diagnosed ...

... Lindau syndrome , autosomal recessive polycystic kidney disease , and autosomal dominant polycystic kidney disease (see Table 3 ). Ciliary body medulloepithelioma In children, ...

... Gene Disorder MOI Clinical Characteristics PKD1 PDK2 1 Autosomal dominant polycystic kidney disease AD Multiple bilateral kidney cysts; cysts in other ...

... approach to bilateral hand-assisted laparoscopic nephrectomy for autosomal dominant polycystic kidney disease. Surg Endosc. 2006 Apr;20(4):679–84. ... in patients with end-stage renal disease and autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2000 Apr;35(4): ...