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Cystinosis MeSH Descriptor Data 2022


MeSH Heading
Cystinosis
Tree Number(s)
C16.320.565.595.377
C18.452.648.595.377
Unique ID
D003554
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D003554
Scope Note
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.
Entry Term(s)
Cystine Diathesis
Cystine Disease
Cystine Storage Disease
Cystinoses
Cystinosin, Defect of
Cystinosis, Nephropathic
Lysosomal Cystine Transport Protein, Defect Of
Nephropathic Cystinosis
NLM Classification #
WJ 301
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2018/10/10
Cystinosis Preferred
Nephropathic Cystinosis Narrower
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