Amish, Mennonite, and Hutterite
Genetic Disorder Database

Nephrosis 1, congenital, Finnish type

Disorder
OMIM #: #256300  (Click to access OMIM database)
Disorder: Nephrosis 1, congenital, Finnish type 
Also known as: NPHS1
Congenital nephrotic syndrome 1
Finnish congenital nephrosis 
Clinical
Phenotype: premature birth, large placenta, renal insufficiency, renal insufficiency, proteinuria, urinary tract infections, growth deficiency, hypoproteinemia, edema, hypertension 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: NPHS1
Base Change: del.C, at nucleotide 1481
Amino Acid Change: Frame shift
2   Old Order Mennonite  
Gene: NPHS1
Base Change: del.G, at nucleotide 3250
Amino Acid Change: Frame shift
Last updated: 2007-10-10 

References
Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A. (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites. Am. J. Hum. Genet. 65:1785-1790.
PubMed ID: 10577936 

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