KEGG   DISEASE: Cystinosis
Entry
H00275                      Disease                                

Name
Cystinosis
  Supergrp
Lysosomal storage disease [DS:H01425]
Description
Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function.
Category
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00275  Cystinosis
  Lysosomal storage diseases
   H00275  Cystinosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C60  Disorders of amino acid absorption or transport
     H00275  Cystinosis
Related
pathway
hsa04142  Lysosome
Gene
CTNS [HSA:1497] [KO:K12386]
Drug
Cysteamine bitartrate [DR:D10468]
Cysteamine hydrochloride [DR:D03635]
Other DBs
ICD-11: 5C60.1
ICD-10: E72.0
MeSH: D003554
OMIM: 219800 219900 219750
Reference
PMID:932205
  Authors
Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA
  Title
Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.
  Journal
J Clin Invest 58:180-9 (1976)
DOI:10.1172/JCI108448
Reference
PMID:15500372 (drug)
  Authors
Kleta R, Gahl WA
  Title
Pharmacological treatment of nephropathic cystinosis with cysteamine.
  Journal
Expert Opin Pharmacother 5:2255-62 (2004)
DOI:10.1517/14656566.5.11.2255
Reference
PMID:1883197
  Authors
Neufeld EF
  Title
Lysosomal storage diseases.
  Journal
Annu Rev Biochem 60:257-80 (1991)
DOI:10.1146/annurev.bi.60.070191.001353
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