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Disease Profile

Focal segmental glomerulosclerosis

Prevalence
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

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

FSGS; Glomerulosclerosis, focal; Segmental glomerulosclerosis;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases;

Summary

Focal segmental glomerulosclerosis (FSGS) is a type of kidney disorder. It is characterized by scar tissue that forms in some of the glomeruli in the kidney.[1] FSGS may cause non-specific signs and symptoms, including protein in the urine, elevated levels of creatinine, and swelling.[2][3] In many cases the cause of FSGS can not be determined. Some cases are thought to be associated with congenital kidney defects, urine backing up into the kidneys, obesity, obstructive sleep apnea, sickle cell anemia, or viruses (e.g., HIV).[3] The goal of treatment is to control symptoms and prevent chronic kidney failure.[1] Even with treatment, many people with FSGS progress to kidney failure within 5 to 20 years.[1]

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

    Organizations Providing General Support

      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

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
        • 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.
        • The 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. 
        • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Focal segmental glomerulosclerosis in a table called Phenotypic Series. Each entry in OMIM includes 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Focal segmental glomerulosclerosis. Click on the link to view a sample search on this topic.

          References

          1. Focal segmental glomerulosclerosis. MedlinePlus. October 21, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000478.htm. Accessed 11/4/2015.
          2. Glomerular diseases. National Kidney & Urologic Diseases Information Clearinghouse. April 2, 2014; https://kidney.niddk.nih.gov/kudiseases/pubs/glomerular/. Accessed 11/4/2015.
          3. Focal segmental glomerulosclerosis (FSGS). UNC Kidney Center Web site. https://unckidneycenter.org/kidney-health-library/glomerular-disease/focal-segmental-glomerulosclerosis-fsgs. Accessed 11/4/2015.