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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/08/07
Symbol MKS5
Location 16q12.2
Name Meckel syndrome, type 5
Corresponding gene RPGRIP1L
Main clinical features
  • association of CNS malformations (typically occipital meningoencephalocele), postaxial polydactyly (PD), multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver . an occipital meningo-oncephalocele with multicystic enlarged kidneys liver fibrosis, typically manifesting as impeded development of the intrahepatic biliary system and ductal plate malformation and post-axial polydactyly, cleft lip/palate, laterality defects and congenital heart malformations including dextrocardia, shortening and bowing of the long tubular bones and abnormal development of the male genitalia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    kidney and urinary tract
    Type disease
    Remark(s) missense mutations diminishes the interaction between RPGRIP1L and nephrocystin-4