National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cystinosis


Other Names:
Cystine diathesis; Cystine disease; Cystine storage disease; Cystine diathesis; Cystine disease; Cystine storage disease; Cystinoses See More
Categories:
Cystinosis is a genetic condition present from birth that leads to the build-up of cystine crystals in the body. This can impact all the organs and tissues, but mainly affects the kidneys and eyes. There are three types of cystinosis based on the age that symptoms start. The most common is the type that starts in infancy. Early symptoms include poor feeding, vomiting, and dehydration. If left untreated, cystinosis leads to kidney and eye damage which gets worse over time. The adult form of cystinosis primarily affects the eyes, causing light sensitivity. Cystinosis is caused by genetic changes (DNA variants) in the CTNS gene and is inherited in an autosomal recessive pattern. It is diagnosed by checking for cystine levels in the blood, by genetic testing, or by an eye examination. Treatment is available using medications that absorb extra cystine from the body. Some people require a kidney transplant.[1][2][3]
Last updated: 5/8/2020
The following list includes the most common signs and symptoms in people with cystinosis. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][2]
Symptoms usually begin in early infancy with poor growth and difficulty feeding. Symptoms of the intermediate form are similar to the infant form, but they start in later childhood and tend to be milder. The major symptom of the adult-onset form is light sensitivity(photophobia).

Treatment with medications that remove excess cystine can slow down or prevent symptoms. The earlier treatment begins the better the outcome. Without treatment, people with cystinosis may have kidney failure by their early teens.[3][4]
Last updated: 5/8/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] 		0003355
Corneal opacity 0007957
Dehydration 0001944
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Fatigue
Tired
Tiredness
[ more ] 		0012378
Hypokalemia
Low blood potassium levels
0002900
Hypophosphatemia
Low blood phosphate level
0002148
Hypothyroidism
Underactive thyroid
0000821
Muscle weakness
Muscular weakness
0001324
Myopathy
Muscle tissue disease
0003198
Nephrogenic diabetes insipidus 0009806
Nephropathy 0000112
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Polydipsia
Extreme thirst
0001959
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Renal tubular dysfunction
Abnormal function of filtrating structures in kidney
0000124
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior
[ more ] 		0000733
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ] 		0100651
Vomiting
Throwing up
0002013
30%-79% of people have these symptoms
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Retinopathy
Noninflammatory retina disease
0000488
Rickets
Weak and soft bones
0002748
5%-29% of people have these symptoms
Abnormal pyramidal sign 0007256
Cranial nerve paralysis 0006824
Dysphasia 0002357
Fever 0001945
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Malabsorption
Intestinal malabsorption
0002024
Portal hypertension 0001409
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
1%-4% of people have these symptoms
Blindness 0000618
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Diabetes mellitus 0000819
Male hypogonadism
Decreased function of male gonad
0000026
Oral-pharyngeal dysphagia 0200136
Primary hypothyroidism 0000832
Renal Fanconi syndrome 0001994
Stage 5 chronic kidney disease 0003774
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cerebral atrophy
Degeneration of cerebrum
0002059
Corneal crystals 0000531
Decreased plasma carnitine 0003234
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Elevated intracellular cystine 0003358
Episodic metabolic acidosis 0004911
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Frontal bossing 0002007
Generalized aminoaciduria 0002909
Genu valgum
Knock knees
0002857
Glycosuria
Glucose in urine
0003076
Growth abnormality
Abnormal growth
Growth issue
[ more ] 		0001507
Hepatomegaly
Enlarged liver
0002240
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
Hyponatremia
Low blood sodium levels
0002902
Hypophosphatemic rickets 0004912
Hypopigmentation of hair
Loss of hair color
0005599
Hypopigmentation of the skin
Patchy lightened skin
0001010
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Male infertility 0003251
Metaphyseal widening
Broad wide portion of long bone
0003016
Microscopic hematuria
Small amount of blood in urine
0002907
Nephrolithiasis
Kidney stones
0000787
Oral motor hypotonia 0030190
Pigmentary retinopathy 0000580
Polyuria
Increased urine output
0000103
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Rachitic rosary 0000897
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495
Retinal pigment epithelial mottling 0007814
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Splenomegaly
Increased spleen size
0001744
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Last updated: 7/1/2020
Cystinosis is caused by genetic changes (DNA variants) in the CTNS gene.[1][2]
Last updated: 5/8/2020
Cystinosis is inherited in an autosomal recessive pattern.[1][2] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
  
People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition. 
Last updated: 5/8/2020
Cystinosis is diagnosed based on a clinical examination, symptoms, and genetic testing to look for DNA variants in the CTNS gene. Other diagnostic testing includes a blood test to look for unusually high levels of cystine and a special exam to look for cystine crystals in the eye.[1][2][3]
Last updated: 5/8/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Cystinosis is treated using daily medication that absorb the excess cystine from the body. Treatment slows down and sometimes eliminates the complications of cystinosis. Other treatments are aimed at managing the symptoms including nutritional support and hormone replacement. Some people need a kidney transplant.[4][5] 

Specialists that may be involved in the care of someone with cystinosis include:
  • Nephrologist (kidney specialist)
  • Ophthalmologist (eye specialist)
  • Neurologist (nerve specialist)
Last updated: 5/8/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

It is estimated that about 1 in 100,000 to 1 in 200,000 people has cystinosis. The exact number of people with this condition is unknown.[1][2]
Last updated: 5/8/2020

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other diseases causing renal Fanconi syndrome (Lowe syndrome, Dent disease, galactosemia, fructose intolerance, thyrosinemia, mitochondrial nephropathies, Wilson disease, Fanconi-Bickel syndrome, lysinuric protein intolerance, idiopathic Fanconi syndromes, secondary Fanconi syndrome due to drug toxicity or substance abuse, recovery of acute tubulus necrosis), diseases causing phosphaturia and rickets, and proteinuria of unknown etiology.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cystinosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Cystinosis Research Foundation Web site provides information on cystinosis research. Click on the link above to learn more. 
  • Cystinosis Research Network provides information on how to participate in cystinosis research.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • The Cystinosis Research Foundation provides the Cystinosis Research Foundation Facebook page where people with cystinosis and their families can connect with others worldwide.
  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Nephropathic cystinosis
    Adult non-nephropathic cystinosis
    Late-onset nephropathic cystinosis
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystinosis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis. 2016; 11:47. https://pubmed.ncbi.nlm.nih.gov/27102039.
  2. Neserova G, Gahl WA. Cystinosis. GeneReviews. Updated Dec 7, 2017; https://pubmed.ncbi.nlm.nih.gov/20301574.
  3. Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E.. Nephropathic cystinosis: an update. Curr Opin Pediatr. 2017; 29(2):168-178. https://pubmed.ncbi.nlm.nih.gov/28107209.
  4. Ariceta G, Giordano V, Santos F. Effects of long-term cysteamine treatment in patients with cystinosis. Pediatr Nephrol. 2019; 34(4):571-578. https://pubmed.ncbi.nlm.nih.gov/29260317.
  5. Nesterova G, Gahl W. Infantile nephropathic cystinosis: Standards of Care. Cystinosis Research Network. June 2012; https://www.cystinosis.org/wp-content/uploads/2019/01/CRN_StandardsofCare_FINAL_1.pdf.
  6. Emma F, Nesterova G, Langman C, Labbé A, Cherqui S et al. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014; 29 Suppl 4(Suppl 4):iv87-iv94. https://pubmed.ncbi.nlm.nih.gov/25165189.