disease has basis in dysfunction of CTNS autosomal recessive disease cystinosis nephropathic cystinosis Abderhalden Kaufmann Lignac syndrome Abderhalden Lignac Kaufmann disease Abderhalden-Kaufmann-Lignac syndrome Abderhalden-Lignac-Kaufmann disease An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. CTNS MESH:C535335 MONDO:0100151 NCIT:C129932 OMIM:219800 UMLS:C2930877 cystinosis, nephropathic