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Disease Profile
Renal coloboma syndrome
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.
Unknown
Age of onset
Childhood
ICD-10
Q60.4
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)
Papillorenal syndrome; Optic nerve coloboma with renal disease; Optic coloboma, vesicoureteral reflux, and renal anomalies;
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases
Summary
Renal coloboma
Symptoms
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 | ||
Optic nerve dysplasia | 0001093 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
30%-79% of people have these symptoms | ||
Multicystic kidney dysplasia | 0000003 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Renal dysplasia | 0000110 | |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
Stage 5 chronic |
0003774 | |
Vesicoureteral reflux | 0000076 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
5%-29% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Lens luxation |
Dislocated lens
|
0012019 |
Macular degeneration | 0000608 | |
Macular hyperpigmentation | 0011509 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic nerve coloboma | 0000588 | |
Renal malrotation |
Abnormal rotation of the kidneys
|
0004712 |
Retinal coloboma |
Hole in the back of the eye
|
0000480 |
Retinal detachment |
Detached retina
|
0000541 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
Arnold-Chiari type I malformation | 0007099 | |
0000006 | ||
Chorioretinal atrophy | 0000533 | |
Gliosis | 0002171 | |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Morning glory anomaly | 0025514 | |
Orbital cyst |
Cyst of eye socket
|
0001144 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Soft skin | 0000977 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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
|
---|
The differential diagnosis includes conditions where colobomas and renal anomalies have been identified such as CHARGE syndrome and Joubert syndrome with oculorenal defect (see these terms). However these disorders generally have other characteristic findings not found in RCS.
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
-
International Children's Anophthalmia Network (ICAN)
c/o Center for Developmental Medicine and Genetics
5501 Old York Road Genetics
Levy 2
West Philadelphia, PA 19141
Toll-free: 800-580-4226
Telephone: 215-456-8722
E-mail: [email protected]
Website: https://www.anophthalmia.org
Organizations Providing General Support
-
American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: [email protected]
Website: https://www.aakp.org -
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://www.kidneyfund.org -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: [email protected]
Website: https://www.kidney.org/
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
- Genetics Home Reference (GHR) contains information on Renal coloboma syndrome. This website is maintained by the National Library of Medicine.
- The National Eye Institute (NEI) provides more information on anophthalmia and microphthalmia in general. The NEI was created to conduct research, distribute health information, and support other programs that protect and prolong the vision of Americans. Click on the above link to view information on this topic.
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.
- 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 Renal coloboma syndrome. Click on the link to view a sample search on this topic.
References
- Renal coloboma syndrome. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome. Accessed 1/6/2012.