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Disease Profile
Cystinosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
E72.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Cystine diathesis; Cystine disease; Cystine storage disease;
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;
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
Symptoms
- 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]
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.
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 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Renal tubular dysfunction |
Abnormal function of filtrating structures in kidney
|
0000124 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Type I |
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 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Portal |
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 |
Decreased function of male gonad
|
0000026 |
Oral-pharyngeal |
0200136 | |
Primary hypothyroidism | 0000832 | |
Renal Fanconi |
0001994 | |
Stage 5 chronic |
0003774 | |
Percent of people who have these symptoms is not available through HPO | ||
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 |
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.
|
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: [email protected]
Website: https://www.cystinosisfoundation.org/ -
Cystinosis Research Foundation
19200 Von Karman Avenue
Suite 920
Irvine, CA 92612
Telephone: 949-223-7610
E-mail: [email protected]
Website: https://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: [email protected]
Website: https://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).
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.
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.
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