Table 4.

Allelic Disorders

GeneDisorderMOIComment / Reference
ALG9 ALG9-CDG (CDG-IL)AR Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
Gillessen-Kaesbach-Nishimura syndromeARARPKD w/microbrachycephaly, hypertelorism, & brachymelia (OMIM 263210)
DNAJB11 Kidney-hepatic-pancreatic cystic diseaseARARPKD w/dilatation & proliferation of pancreatic ducts & liver ductal plate malformations [Ateş et al 2021, Jordan et al 2021]
GANAB ADPLDADSome persons w/a heterozygous GANAB pathogenic variant have PLD w/severe liver cystic disease & few kidney cysts [Porath et al 2016, Besse et al 2017, Besse et al 2018].
IFT140 Cranioectodermal dysplasiaAR Cranioectodermal Dysplasia
Short-rib thoracic dysplasia 9 w/polydactylyAROMIM 266920
Retinitis pigmentosaAR Nonsyndromic Retinitis Pigmentosa Overview
Leber congenital amaurosisARNephronophthisis w/subsequent ESKD can be seen w/IFT140-assoc LCA (see Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview).

AD = autosomal dominant; ADPLD = autosomal dominant polycystic liver disease; AR = autosomal recessive; ARPKD = autosomal recessive polycystic kidney disease; CDG = congenital disorder of glycosylation; ESKD = end-stage kidney disease; LCA = Leber congenital amaurosis; MOI = mode of inheritance; PLD = polycystic liver disease

From: Polycystic Kidney Disease, Autosomal Dominant

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