Cystinosis
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.
PubMed search builder options
Subheadings:
Tree Number(s): C16.320.565.595.377, C18.452.648.595.377
MeSH Unique ID: D003554
Entry Terms:
- Cystine Disease
- Cystine Diseases
- Cystinoses
- Lysosomal Cystine Transport Protein, Defect Of
- Cystinosin, Defect of
- Defect of Cystinosin
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
- Cystine Storage Disease
- Cystine Storage Diseases
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Nephropathic Cystinosis
- Cystinosis, Nephropathic
- Cystinoses, Nephropathic
- Nephropathic Cystinoses