Cystinosis

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Other Names:

Cystine diathesis; Cystine disease; Cystine storage disease; Cystine diathesis; Cystine disease; Cystine storage disease; Cystinoses See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Metabolic disorders See More

Summary Summary

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

Symptoms Symptoms

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]

Poor growth in infancy (failure to thrive)
Vomiting
Excessive urination (polyuria)
Excessive thirst (polydipsia)
Sensitivity to light (photophobia)
Soft bones (rickets)
Inability to absorb nutrients through the kidneys (Fanconi syndrome)
Kidney failure

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	Light hypersensitivity Extreme sensitivity of the eyes to light [ 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

Showing of 76 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Cause Cause

Cystinosis is caused by genetic changes (DNA variants) in the CTNS gene.^[1]^[2]

Last updated: 5/8/2020

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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.

Cysteamine hydrochloride (Brand name: Cystaran) - Manufactured by Sigma-Tau Pharmaceuticals, Inc.
FDA-approved indication: Treatment of corneal cystine crystal accumulation in patients with cystinosis.
National Library of Medicine Drug Information Portal
Cysteamine enteric coated (Brand name: Procysbi) - Manufactured by Horizon Pharma USA, Inc.
FDA-approved indication: Management of nephropathic cystinosis in adults and children ages 1 year and older.
National Library of Medicine Drug Information Portal

Statistics Statistics

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

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Related Diseases Related Diseases

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.

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 Research

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

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Cystinosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Cystinosis:
Cure Cystinosis International Registry
Cystinosis Research Network Patient Volunteer Listing
Cystinosis Research Network Patient Volunteer Listing
The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations

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

Cystinosis Foundation
58 Miramonte Drive
Moraga, CA 94556
Toll-free: 888-631-1588
Telephone: 925-631-1588
E-mail: VHotz@cystinosis.com
Website: http://www.cystinosisfoundation.org/
Cystinosis Research Foundation
19200 Von Karman Avenue
Suite 920
Irvine, CA 92612
Telephone: 949-223-7610
E-mail: info@cystinosisresearch.org
Website: http://www.cystinosisresearch.org
Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
Toll-free: 866-276-3669
Telephone: 847-735-0471
Fax: 847-235-2773
E-mail: info@cystinosis.org
Website: http://www.cystinosis.org/

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).

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
The Cystinosis Research Foundation Web site provides information on cystinosis. Click on the link above to view for further information on this topic.
Cystinosis Research Network provides information about cystinosis.
Genetics Home Reference (GHR) contains information on Cystinosis. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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References References

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.
Neserova G, Gahl WA. Cystinosis. GeneReviews. Updated Dec 7, 2017; https://pubmed.ncbi.nlm.nih.gov/20301574.
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.
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.
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.
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.