Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 14-11-2015
Symbol MCCNS
Location 3p21.31
Name microcoria-congenital nephrosis and myasthenic syndrome
Other name(s)
  • Pierson syndrome
  • Nephrotic syndrome, type 5, with or without ocular abnormalities
    • Corresponding gene LAMB2
    Other symbol(s) NPHS5
    Main clinical features
  • mesangial sclerosis and distinct ocular anomalies with microcoria
  • associated or not in congenital myasthenic syndrome
  • congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants
    • Genetic determination autosomal recessive
    Related entries including congenital nephrotic syndrome with or without ocular abnormalities (NPHS5 (PMID: 614199)
    Function/system disorder eye
    kidney and urinary tract
    Type disease
    Gene product
    Name laminin, beta 2 (laminin S)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)