Amish, Mennonite, and Hutterite
Genetic Disorder Database

Nephronophthisis 3

Disorder
OMIM #: #604387  (Click to access OMIM database)
Disorder: Nephronophthisis 3 
Also known as: Lethal cystic kidney disease
NPHP3 
Clinical
Phenotype: Respiratory distress, oligohydramnios, cystic kidneys, low-set ears, small lungs 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: NPHP3
Base Change: C>T, at nucleotide 2104
Amino Acid Change: arg 702 --> term
Last updated: 2019-01-18 

References
Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH. (2009) Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. Am J Kidney Dis May;53(5):790-5.
PubMed ID: 19303681 

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