Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 23-12-2013
Symbol NPHS1
Location 19q13.12
Name nephrotic 1, congenital, Finnish type
Other name(s) congenital nephrotic syndrome
Corresponding gene NPHS1
Other symbol(s) CNF
Main clinical features
  • mitochondrial dysfunction in the kidneys
  • characterized by massive proteinuria already present at birth without extrarenal symptoms and anatomically an absence of podocyte foot processes and of slit diaphragm
    • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name nephrin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     two mutations predominant in the Finnish population, Fin major 121 del CT, Fin minor nonsense R1109X, in other populations, most private missense mutations
    Remark(s)
    Genotype/Phenotype correlations two mutations of Fin-major (nt121delCT) and Fin-minor (R1109X) are highly prevalent (>90%) in the Finnish CNF patients and generally cause a severe and early-onset phenotype (Shono 2009)