Autosomal dominant Alport syndrome

Title

Other Names:

Renal failure and sensorineural hearing loss; Alport syndrome dominant type

Categories:

Congenital and Genetic Diseases

This disease is grouped under:

Alport syndrome

Summary Summary

Autosomal dominant Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.^[1]

Last updated: 10/24/2011

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Glomerulopathy		0100820
Hematuria	Blood in urine	0000790
Morphological abnormality of the semicircular canal		0011380
Retinopathy	Noninflammatory retina disease	0000488
Sensorineural hearing impairment		0000407
30%-79% of people have these symptoms
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Dry skin		0000958
Dyspnea	Trouble breathing	0002094
Fatigue	Tired Tiredness [ more ]	0012378
Headache	Headaches	0002315
Hypertension		0000822
Lentiglobus		0011527
Leukopenia	Decreased blood leukocyte number Low white blood cell count [ more ]	0001882
Nephrotic syndrome		0000100
Pallor		0000980
Pedal edema	Fluid accumulation in lower limbs Lower leg swelling [ more ]	0010741
Periorbital edema		0100539
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Tinnitus	Ringing in ears Ringing in the ears [ more ]	0000360
Weight loss		0001824
5%-29% of people have these symptoms
Abdominal situs inversus		0003363
Corneal dystrophy		0001131
Diffuse leiomyomatosis		0006756
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Macular dystrophy		0007754
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Neoplasm of the colon	Colon tumor	0100273
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Subcutaneous nodule	Firm lump under the skin Growth of abnormal tissue under the skin [ more ]	0001482
Thrombocytopenia	Low platelet count	0001873
Uterine neoplasm	Uterine tumor	0010784
Vomiting	Throwing up	0002013
Percent of people who have these symptoms is not available through HPO
Anterior polar cataract		0001134
Autosomal dominant inheritance		0000006
Azotemia		0002157
Diffuse glomerular basement membrane lamellation		0030034
Glomerulonephritis		0000099
Hypophosphatemia	Low blood phosphate level	0002148
Lenticonus		0001142
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Progressive	Worsens with time	0003676
Stage 5 chronic kidney disease		0003774
Thickening of the glomerular basement membrane		0004722

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

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

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 Autosomal dominant Alport syndrome. 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.

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

Alport Syndrome Foundation
1608 E. Briarwood Terrace
Phoenix, AZ 85048-9414
Telephone: 480-460-0621
Fax: 480-460-0621
E-mail: info@alportsyndrome.org
Website: http://www.alportsyndrome.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: info@aakp.org
Website: http://www.aakp.org

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

Genetics Home Reference (GHR) contains information on Autosomal dominant Alport syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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 Autosomal dominant Alport syndrome. Click on the link to view a sample search on this topic.

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