Cystine Diatheses

Cystine Diathesis

Cystine Disease

Cystine Diseases

Cystine Storage Disease

Cystine Storage Diseases


Cystinoses, Nephropathic

Cystinosin, Defect of

Cystinosis, Nephropathic

Defect of Cystinosin

Defect of Cystinosins

Diatheses, Cystine

Diathesis, Cystine

Lysosomal Cystine Transport Protein, Defect Of

Nephropathic Cystinoses

Nephropathic Cystinosis

Storage Disease, Cystine

Storage Diseases, Cystine

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.