Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cystinosis

Disorder
OMIM #: #219800  (Click to access OMIM database)
Disorder: Cystinosis 
Also known as: Nephropathic cystinosis 
Clinical
Phenotype: lysosomal storage disorder, cystine accumulation in lysosomes, renal insufficiency, blonde hair, sun-sensitive, hypothyroidism 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: CTNS
Base Change: G>A, at nucleotide 1354
Amino Acid Change: gly 339 --> arg
Last updated: 2018-04-19 

References
Rupar CA, Matsell D, Surry S, Siu V. (2001) A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. J. Med. Genet. 615-6.
PubMed ID: 11565547 

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