Preferred Label : Gillessen-kaesbach-nishimura syndrome;
Symbol : GIKANIS;
CISMeF acronym : GIKANIS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism,
and brachymelia;
Description : Gillessen-Kaesbach et al. (1993) reported the cases of 3 pairs of sibs from unrelated
families who presented with polycystic kidneys of the Potter type I thought to be
specific for autosomal recessive polycystic kidney disease (263200) and with microbrachycephaly,
hypertelorism with telecanthus, large posteriorly angulated and fleshy ears, and various
congenital malformations including congenital heart defects. Two of the families were
Turkish with consanguineous parents. Hallermann et al. (2000) reported 2 male sibs
with a syndrome similar to those described by Gillessen-Kaesbach et al. (1993). The
patients had polycystic kidneys and hepatic fibrosis typical of that observed in autosomal
recessive polycystic kidney disease (ARPKD; 263200), along with skeletal and facial
anomalies. Skeletal abnormalities included 'butterfly' vertebrae, distinctive shape
of the iliac bones, and brachymelia. The facial anomalies included hypertelorism,
epicanthic folds, and anteverted nares. Linkage analysis using markers from the 6p21.1-p12
region (to which ARPKD had been mapped) showed different haplotypes in the sibs, excluding
the ARPKD gene locus in this family. *FIELD* RF 1. Gillessen-Kaesbach, G.; Meinecke,
P.; Garrett, C.; Padberg, B. C.; Rehder, H.; Passarge, E.: New autosomal recessive
lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly,
brachymelia, and congenital heart defects. Am. J. Med. Genet. 45: 511-518, 1993. 2.
Hallermann, C.; Mucher, G.; Kohlschmidt, N.; Wellek, B.; Schumacher, R.; Bahlmann,
F.; Shahidi-Asl, P.; Theile, U.; Rudnik-Schoneborn, S.; Muntefering, H.; Zerres, K.:
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies
is not linked to the ARPKD gene locus on chromosome 6p. Amer. J. Med. Genet. 90: 115-119,
2000. *FIELD* CS GU: Polycystic kidneys, Potter type I;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the homolog of the S. cerevisiae ALG9 gene (ALG9, 606941.0003);
Prefixed ID : #263210;
Origin ID : 263210;
UMLS CUI : C1849762;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
