Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-04-2010
Symbol RCAD
Location 17q12
Name renal cysts and diabetes
Other name(s) glomerulocystic kidney disease, hypoplastic type
Corresponding gene HNF1B
Other symbol(s) GCKD, DEL17Q12
Main clinical features ranging from congenital renal abnormalities to maturity-onset diabetes of the young type 5
  • renal cysts , glomerular cysts, and other renal developmental disorders
  • young-onset diabetes associated with pancreatic atrophy
  • some patients have hyperuricemia, young-onset gout, abnormal liver function tests, genital tract abnormalities
  • further reports expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12 (Nagamani 2010)
    • Genetic determination autosomal dominant
    genomic disorder
    chromosomal
    Function/system disorder kidney and urinary tract
    metabolism/aminoacids
    endocrinology
    multisystem/generalized
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein E101X nonsense mutation in exon 1, a frameshift mutation in exon 2 (P159fsdelT), a frameshift mutation in exon 4, a deletion of CCTCT at codons 328 to 329
      deletion haploinsufficiency ~50 percent of cases result from a 1.2Mb deletion encompassing TCF2
    Remark(s) a reciprocal duplication is enriched in samples from patients with epilepsy
    Genotype/Phenotype correlations the phenotype of patients with point mutations and those with deletions appears to be indistinguishable