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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)