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Disease Cystinosis

Name Cystinosis
Synonyms CTNS | Cystine Diatheses | Cystine Diathesis | Cystine Disease | Cystine Diseases | Cystine Storage Disease | Cystine Storage Diseases | Cystinoses | Cystinoses, Nephropathic | Cystinosin, Defect of | CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED | CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED | Cystinosis, Nephropathic | Diatheses, Cystine | Diathesis, Cystine | Disease, Cystine Storage | Diseases, Cystine Storage | Lysosomal Cystine Transport Protein, Defect Of | Nephropathic Cystinoses | Nephropathic Cystinosis | Storage Disease, Cystine | Storage Diseases, Cystine
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D003554
OMIM® ID 219800
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Cystinosis Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Cystinosis Has associated chemicals Has associated genes

Top ↑ Descendants

Cystinosis Has associated chemicals Has associated genes
  Abderhalden-Kaufmann-Lignac syndrome
  Cystinosis, Infantile Nephropathic
  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type Has associated chemicals Has associated genes
  Cystinosis, ocular nonnephropathic Has associated chemicals Has associated genes