Search on: CYSTINOSIS 
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Descriptor English:   Cystinosis 
Descriptor Spanish:   Cistinosis 
Descriptor Portuguese:   Cistinose 
Synonyms English:   Cystine Diathesis
Cystine Disease
Cystine Storage Disease
Cystinoses
Cystinosin, Defect of
Cystinosis, Nephropathic
Lysosomal Cystine Transport Protein, Defect Of
Nephropathic Cystinosis
Cystine Diatheses
Cystine Diseases
Cystine Storage Diseases
Cystinoses, Nephropathic
Defect of Cystinosin
Defect of Cystinosins
Diatheses, Cystine
Diathesis, Cystine
Nephropathic Cystinoses
Storage Disease, Cystine
Storage Diseases, Cystine  
Tree Number:   C16.320.565.595.377
C18.452.648.595.377
Definition English:   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 English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   3572 
Unique Identifier:   D003554 

Occurrence in VHL: 		 

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