MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0005556
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.
Terms: Cystinosis Preferred Term
Term UI T010323
Date01/01/1999
LexicalTag NON
ThesaurusID; Cystine Disease
Term UI T782079
Date12/13/2010
LexicalTag NON
ThesaurusID; Cystinoses
Term UI T841234
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Lysosomal Cystine Transport Protein, Defect Of
Term UI T811537
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Cystinosin, Defect of
Term UI T817200
Date02/03/2012
LexicalTag NON
ThesaurusID OMIM (2013); Cystine Diathesis
Term UI T782078
Date12/13/2010
LexicalTag NON
ThesaurusID; Cystine Storage Disease
Term UI T782080
Date12/13/2010
LexicalTag NON
ThesaurusID

Cystinosis MeSH Descriptor Data 2023