Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cystinuria

Disorder
OMIM #: #220100  (Click to access OMIM database)
Disorder: Cystinuria 
Also known as: CSNU, CYSTINURIA, TYPE I, FORMERLY
CSNU1, FORMERLY, CYSTINURIA, TYPE II, FORMERLY, CYSTINURIA, TYPE III, FORMERLY
CSNU3, FORMERLY, CYSTINURIA, TYPE NON-I, FORMERLY, CYSTINURIA, TYPE A, INCLUDED, CYSTINURIA, TYPE B, INCLUDED, CYSTINURIA, TYPE A/B, INCLUDED 
Clinical
Phenotype: renal stones, urinary tract obstruction, urinary tract infections, renal insufficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: Clinic for special children 
Mutations
1   Old Order Mennonite  
Gene: SLC3A1
Base Change: IVS6+2T>C
Amino Acid Change: Unknown
References
2   Old Order Mennonite  
Gene: SLC3A1
Base Change: C>T, at nucleotide 1354
Amino Acid Change: arg 452 --> trp
3   Old Order Mennonite  
Gene: SLC7A9
Base Change: C>T, at nucleotide 201
Amino Acid Change: ile 67 --> ile
4   Old Order Mennonite  
Gene: SLC7A9
Base Change: C>T, at nucleotide 1166
Amino Acid Change: thr 389 --> met
Last updated: 2010-07-21 

References
Endsley J, Phillips J, III, Hruska K, Denneberg T, Carlson J, and George A, Jr. (1997) Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney International 51: 1893-1899.
PubMed ID: 9186880 
Puffenberger EG. (2003) Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet 15;121C(1):18-31.
PubMed ID: 12888983 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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