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Descriptor English: Cystinosis
Descriptor Spanish: Cistinosis
Descriptor cistinosis
Scope note: Trastornos por tesaurismosis lisosómica cuyo defecto molecular se desconoce, caracterizados por el depósito generalizado de cristales de cistina en las células reticuloendoteliales. (Dorland, 28a ed)
Descriptor Portuguese: Cistinose
Descriptor French: Cystinose
Entry term(s): Cystine Diatheses
Cystine Diathesis
Cystine Disease
Cystine Diseases
Cystine Storage Disease
Cystine Storage Diseases
Cystinoses
Cystinoses, Nephropathic
Cystinosin, Defect of
Cystinosis, Nephropathic
Defect of Cystinosin
Diatheses, Cystine
Diathesis, Cystine
Lysosomal Cystine Transport Protein, Defect Of
Nephropathic Cystinoses
Nephropathic Cystinosis
Storage Disease, Cystine
Storage Diseases, Cystine
Tree number(s): C16.320.565.595.377
C18.452.648.595.377
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
DeCS ID: 3572
Unique ID: D003554
NLM Classification: WJ 301
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/10/10
Cystinosis - Preferred
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.
Preferred term Cystinosis
Entry term(s) Cystine Diatheses
Cystine Diathesis
Cystine Disease
Cystine Diseases
Cystine Storage Disease
Cystine Storage Diseases
Cystinoses
Cystinosin, Defect of
Defect of Cystinosin
Diatheses, Cystine
Diathesis, Cystine
Lysosomal Cystine Transport Protein, Defect Of
Storage Disease, Cystine
Storage Diseases, Cystine
Nephropathic Cystinosis - Narrower
Concept UI M000638431
Preferred term Nephropathic Cystinosis
Entry term(s) Cystinoses, Nephropathic
Cystinosis, Nephropathic
Nephropathic Cystinoses



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