Amish, Mennonite, and Hutterite
Genetic Disorder Database

Nephrotic Syndrome, Type 2

Disorder
OMIM #: #600995  (Click to access OMIM database)
Disorder: Nephrotic Syndrome, Type 2 
Also known as: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
SRN1, NEPHROTIC SYNDROME, IDIOPATHIC, NPHS2 
Clinical
Phenotype: renal insufficiency, proteinuria, hyperlipidemia, nephrotic syndrome, hypoalbuminemia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: NPHS2
Base Change: G>A, at nucleotide 413
Amino Acid Change: arg 138 --> gln
Last updated: 2010-07-20 

References
Strauss KA, Puffenberger EG. (2008) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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