The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Cerebral cortical atrophy||-|
|Decreased glomerular filtration rate||-|
|Elevated serum creatinine||-|
|Impaired renal uric acid clearance||-|
|Multiple small medullary renal cysts||-|
|Renal cortical atrophy||-|
|Renal corticomedullary cysts||-|
|Renal salt wasting||-|
|Stage 5 chronic
|Tubular basement membrane disintegration||-|
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.
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.
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.
The following diseases are related to Medullary cystic kidney disease. If you have a question about any of these diseases, you can contact GARD.
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I would like to know if this disease can also cause cysts in the liver. Also, where can I obtain more information on this condition? See answer