Amish, Mennonite, and Hutterite
Genetic Disorder Database

Nephronophthisis-Juvenile

Disorder
OMIM #: #256100  (Click to access OMIM database)
Disorder: Nephronophthisis-Juvenile 
Also known as: NPHP1, NEPHRONOPHTHISIS, FAMILIAL JUVENILE NPH1 
Clinical
Phenotype: Presents initially with polydipsia, polydipsia, fanconi syndrome, growth deficiency, renal insufficiency, end stage renal disease occurs at average age of 13, can also have oculomotor apraxia and retinal dystrophy associated with renal disease, extra renal symptoms may be absent in Hutterite patients 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: NPHP1
Base Change:
Amino Acid Change: 290kb homozygous deletions on chromosome 2q13
Last updated: 2010-06-24 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB and, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98.
PubMed ID: 18348266 
Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H and, Brandis M. (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17(2):149-53.
PubMed ID: 9326933 
Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC and, Antignac C. (1996) Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5(3):367-71.
PubMed ID: 8852662 
Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J and, Antignac C. (1997) A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 6(13):2317-23.
PubMed ID: 9361039 

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