Categories: Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases
Aliases & Descriptions for Cystinosis:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (Germany),1-9/100000 (United Kingdom),1-9/1000000 (Australia),1-9/100000 (Europe),1-9/1000000 (Denmark),1-9/1000000 (Sweden),1-9/100000; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Nephrological diseases
ICD10: 29 28
Inborn errors of metabolism
NIH Rare Diseases:46 Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. excess cystine forms crystals that can build up and damage cells. these crystals can negatively affect many systems in the body, especially the kidneys and eyes. there are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. all three types of cystinosis are caused by mutations in the ctns gene and inherited in an autosomal recessive pattern. last updated: 11/11/2011
MalaCards based summary: Cystinosis, also known as cystine storage disease, is related to cystinosis, nephropathic and cystinosis, ocular nonnephropathic, and has symptoms including abnormality of the genital system, abnormality of the renal tubule and proteinuria. An important gene associated with Cystinosis is CTNS (Cystinosin, Lysosomal Cystine Transporter). The drugs cysteamine and cysteamine bitartrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thyroid.
Disease Ontology:11 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. it follows an autosomal recessive inheritance pattern and is caused by mutations in the ctns gene, located on chromosome 17.
Genetics Home Reference:24 Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.
Wikipedia:69 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...
GeneReviews summary for NBK1400
Symptoms:52 (show all 33)
HPO human phenotypes related to Cystinosis:(show all 30)
UMLS symptoms related to Cystinosis:hepatomegaly, polyuria, polydipsia, photophobia
Drugs for Cystinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:(show all 24)
Search NIH Clinical Center for Cystinosis
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Cystinosis:34
Kidney, Eye, Thyroid, Testes, Pancreas, Bone, Bone marrow
Articles related to Cystinosis:(show top 50) (show all 558)
Clinvar genetic disease variations for Cystinosis:5
Search GEO for disease gene expression data for Cystinosis.
Cellular components related to Cystinosis according to GeneCards Suite gene sharing:
Biological processes related to Cystinosis according to GeneCards Suite gene sharing:
Molecular functions related to Cystinosis according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet