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Disease Profile
Lymphedema-distichiasis 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
All ages
ICD-10
Q82.0
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)
Lymphedema with distichiasis; Hereditary lymphedema-distichiasis syndrome (subtype)
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Lymphedema-distichiasis
Lymphedema-distichiasis syndrome is caused by changes (referred to as
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 | ||
Conjunctivitis |
Pink eye
|
0000509 |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Distichiasis | 0009743 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Predominantly lower limb lymphedema | 0003550 | |
30%-79% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Ectropion |
Eyelid turned out
|
0000656 |
Muscle weakness |
Muscular weakness
|
0001324 |
Drooping upper eyelid
|
0000508 | |
Varicose veins | 0002619 | |
5%-29% of people have these symptoms | ||
Abnormality of the pulmonary vasculature |
Abnormality of the lung blood vessels
|
0004930 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
0000819 | ||
Fibrosarcoma | 0100244 | |
Glomerulopathy | 0100820 | |
Patent ductus arteriosus | 0001643 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Renal |
Extra kidney
|
0000075 |
Spinalarachnoid cyst | 0009745 | |
Tubulointerstitial nephritis | 0001970 | |
Webbed neck |
Neck webbing
|
0000465 |
1%-4% of people have these symptoms | ||
Yellow nails | 0011367 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the musculature |
Muscular abnormality
|
0003011 |
0000006 | ||
Cellulitis |
Bacterial infection of skin
Skin infection
[ more ] |
0100658 |
Corneal ulceration | 0012804 | |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Recurrent corneal erosions |
Recurrent breakdown of clear protective layer of eye
|
0000495 |
Tetralogy of Fallot | 0001636 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
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
-
Lymphatic Education and Research Network
261 Madison Avenue
New York, NY 10016
Telephone: +1-516-625-9675
Fax: +1-516-625-9410
E-mail: [email protected]
Website: https://lymphaticnetwork.org/ -
Lymphedema Family Study
University of Pittsburgh, Department of Human Genetics
A300 Crabtree Hall, GSPH
Pittsburgh, PA 15261
Toll-free: 800-263-2152
Telephone: 412-624-4659
E-mail: [email protected]
Website: https://lymphedema.pitt.edu/ -
Lymphoedema Support Network (LSN)
St. Luke's Crypt
Sydney Street
London SW3 6NH
United Kingdom
Telephone: 020 7351 4480 (Information and Support); 020 7351
Fax: 020 7349 9809
E-mail: [email protected]
Website: https://www.lymphoedema.org -
National Lymphedema Network (NLN)
411 Lafayette Street, 6th Floor
New York, NY 10003
Toll-free: +1646-722-7410
E-mail: [email protected]
Website: https://www.lymphnet.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
- MedlinePlus Genetics contains information on Lymphedema-distichiasis syndrome. This website is maintained by the National Library of Medicine.
- 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.
- 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 Lymphedema-distichiasis syndrome. Click on the link to view a sample search on this topic.
References
- Lymphedema-distichiasis syndrome. Genetics Home Reference (GHR). February 2014; https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome.
- Stevenson DA. Lymphedema-Distichiasis Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/lymphedema-distichiasis-syndrome/.
- Mansour S, Brice GW, Jeffery S, Mortimer P. Lymphedema-Distichiasis Syndrome. GeneReviews. May 2012; https://www.ncbi.nlm.nih.gov/books/NBK1457/.