Gillessen-Kaesbach-Nishimura-Syndrom
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.
Gliederung
Kongenitale Glykosilierungsstörung
|
|||||
|
Gillessen-Kaesbach-Nishimura-Syndrom
| ||||
|
|
ALG9
| |||
|
Kongenitale Glykosilierungsstörung 1A
| ||||
|
|
Kongenitale Glykosilierungsstörung 1L
| ||||
|
|
|
|
|
|
Referenzen:
| 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. [^] |
