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GENATLAS PHENOTYPE
last update : 27-01-2015
Symbol MKSL1
Location 3q22.1
Name Meckel -like syndrome 1
Other name(s)
  • renal-hepatic-pancreatic dysplasia
  • Meckel-Gruber-like syndrome 7
  • Corresponding gene NPHP3
    Other symbol(s) MKS7, RHPD
    Main clinical features
  • enlarged multicystic dysplastic kidneys, ductal plate malformation, glomerulocystic kidney disease, hepatopathy with cholestasis, cirrhosis and portal hypertension ; frequent perinatal death
  • situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)