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MCID: CYS010
MIFTS: 55
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Cystinosis
Categories:
Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Cystinosis:
Characteristics:Orphanet epidemiological data:59
cystinosis
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; Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Anatomical: Nephrological diseases Blood diseases
ICD10:
34
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Genetics Home Reference
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25
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.
There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.
Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.
The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties.
People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely.
MalaCards based summary : Cystinosis, also known as cystine storage disease, is related to cystinosis, nephropathic and fanconi syndrome, and has symptoms including photophobia, polydipsia and polyuria. An important gene associated with Cystinosis is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways is Lysosome. The drugs Acetylcysteine and N-monoacetylcystine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related phenotypes are hypothyroidism and muscle weakness Disease Ontology : 12 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has material basis in mutations in the CTNS gene, located on chromosome 17. NIH Rare Diseases : 53 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. KEGG : 37 
Wikipedia : 75 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...
GeneReviews:
NBK1400
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Human phenotypes related to Cystinosis:59 32 (show all 33)
UMLS symptoms related to Cystinosis:photophobia, polydipsia, polyuria |
Drugs for Cystinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 32)
Interventional clinical trials:(show all 29)
Cochrane evidence based reviews: cystinosis |
Genetic tests related to Cystinosis:
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MalaCards organs/tissues related to Cystinosis:41
Kidney,
Eye,
Bone,
Thyroid,
Testes,
Pancreas,
Bone Marrow
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Articles related to Cystinosis:(show top 50) (show all 1253)
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Genes related to Cystinosis (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cystinosis:6 (show top 50) (show all 139)
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Pathways related to Cystinosis according to KEGG:37
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Cellular components related to Cystinosis according to GeneCards Suite gene sharing:
Biological processes related to Cystinosis according to GeneCards Suite gene sharing:
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