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References OMIM Gene GeneReviews HGMD HGNC
last update : 1/03/2007
Symbol MKS3
Location 8q22.1
Name Meckel-Gruber syndrome, type 3
Corresponding gene TMEM67
Main clinical features
  • lethal, with fibrocystic changes of the liver, typically manifesting as impeded development of the intrahepatic biliary system and ductal plate malformation, bilateral renal cystic dysplasia (cortical and medullary cysts with just focal regions of nephrogenic development), developmental defects of the central nervous system (most commonly occipital encephalocele), rare 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 congenital malformation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function displayed significant intracellular accumulation that predominantly co-localized with anti-calreticulin antibody suggesting retention in the ER