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GENATLAS PHENOTYPE
last update : 07/01/2008
Symbol MCKD2
Location 16p12.3
HGNC id 6942
Name medullary cystic kidney disease 2
Corresponding gene UMOD
Other symbol(s) ADMCKD2
Main clinical features
  • tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life
  • onset between the age of 20-30 years or even later, interstitial nephropathy, defective urine concentration and the presence of small cysts in renal medulla, progressing toward renal failure before 50 years of age
    • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name uromodulin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     only in the exon 4, C225Y, disrupting the light chain binding domain of the protein
    Remark(s)
    Genotype/Phenotype correlations homozygous individuals survived to adulthood, although presenting an earlier onset of hyperuricemia and faster progression to end-stage renal disease than heterozygous individuals