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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17-06-2014
Symbol MCKD1
Location 1q22.1
HGNC id 6941
Name medullary cystic kidney disease 1
Other name(s) polycystic kidneys, medullary type
Corresponding gene MUC1
Other symbol(s) FIN, ADMCKD, MCKD
Main clinical features
  • characterized by familial juvenile nephronophthisis or adult onset medullary cystic disease, tubulointerstitial nephropathy causing renal salt wasting and end-stage renal failure in the sixth decade of life
  • kidneys showed thin cortices, prominent glomerular hyalinization, numerous corticomedullary and intramedullary cysts lined by low cuboidal epithelium, and increase in medullary connective tissue
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)