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, Fanconi syndrome, renal calculi, metabolic acidosis, polyuria, polydipsia, recurrent dehydration, hypophosphatemic rickets, photophobia, pancreatic insufficiency, hepatomegaly, splenomegaly, hypopigmentation in skin and hair, muscle wasting, myopathy, cerebral atrophy, hypothyroidism, proteinuria, glucosuria, aminoaciduria, various mineral deficiency in blood |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CTNS |
| Base Change: | G>A, at nucleotide 1354 |
| Amino Acid Change: | gly 339 --> arg |
| 2 Old Colony Mennonite | |
| Gene: | CTNS |
| Base Change: | |
| Amino Acid Change: | 57kb deletion, exons 1-10 |
| Last updated: | 2023-04-14 |
| References |
|---|
| Gahl WA, Thoene JG, Schneider JA. (2002) Cystinosis. N Engl J Med Jul 11;347(2):111-21. PubMed ID: 12110740 |
| 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 Sep;38(9):615-6. PubMed ID: 11565547 |
| Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. (1998) CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet Nov;63(5):1352-62. PubMed ID: 9792862 |
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