National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Leiomyomatosis, esophageal and vulval, with nephropathy



Other Names:
DL-ATS; Diffuse leiomyomatosis in Alport syndrome; Alport syndrome with diffuse leiomyomatosis; DL-ATS; Diffuse leiomyomatosis in Alport syndrome; Alport syndrome with diffuse leiomyomatosis; ATS-DL See More

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
Percent of people who have these symptoms is not available through HPO
Anterior lenticonus 0011501
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Constipation 0002019
Diffuse glomerular basement membrane lamellation 0030034
Diffuse leiomyomatosis 0006756
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Dyspnea
Trouble breathing
0002094
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Hematuria
Blood in urine
0000790
High-frequency sensorineural hearing impairment 0001757
Lenticonus 0001142
Nephropathy 0000112
Proteinuria
High urine protein levels
Protein in urine
[ more ]
0000093
Stage 5 chronic kidney disease 0003774
Thickening of the glomerular basement membrane 0004722
Tracheobronchial leiomyomatosis 0006524
Vomiting
Throwing up
0002013
X-linked inheritance 0001417
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Last updated: 7/1/2020

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.

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


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.

In-Depth Information

  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leiomyomatosis, esophageal and vulval, with nephropathy. Click on the link to view a sample search on this topic.

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