Das Gillessen-Kaesbach-Nishimura-Syndrom ist eine autosomal rezessive Glykosilierungsstörung, die durch Mutationen im ALG9-Gen hervorgerufen wird. Die renale Manifestation sind Potter-Typ 1 polyzystische Nieren.
Kongenitale Glykosilierungsstörung | ||||
Gillessen-Kaesbach-Nishimura-Syndrom | ||||
ALG9 | ||||
Kongenitale Glykosilierungsstörung 1A | ||||
Kongenitale Glykosilierungsstörung 1L | ||||
Kongenitale Glykosilierungsstörung 1N | ||||
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 |