Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Gillessen-Kaesbach-Nishimura syndrome

Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive disorder of glycosylation caused by mutations of the ALG9. The renal phenotype includes a Potter type 1 polycystic kidneys.

Systematic

Congenital disorder of glycosylation
Congenital disorder of glycosylation 1A
Congenital disorder of glycosylation 1L
Gillessen-Kaesbach-Nishimura syndrome
ALG9

References:

1.

Tham E et. al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

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2.

Gillessen-Kaesbach G et. al. (1993) New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

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3.

Nishimura G et. al. (1998) A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents.

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4.

Hallermann C et. al. (2000) Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

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Update: Sept. 26, 2018