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.
Congenital disorder of glycosylation | ||||
Congenital disorder of glycosylation 1A | ||||
Congenital disorder of glycosylation 1L | ||||
Congenital disorder of glycosylation 1N | ||||
Gillessen-Kaesbach-Nishimura syndrome | ||||
ALG9 | ||||
1. |
Tham E et al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. |
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. |
3. |
Nishimura G et al. (1998) A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. |
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. |
5. |
OMIM.ORG article Omim 263210 |