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Disease Profile
Classical-like Ehlers-Danlos 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.
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Age of onset
Neonatal
ICD-10
Q79.6
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)
EDS due to TNX deficiency; TNX deficiency; Ehlers-Danlos syndrome, classic-like type;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases;
Summary
Classical-like Ehlers-Danlos
Classical-like EDS is caused by
Some individuals with classical-like EDS can have larger
There is no cure for classical-like EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[3]
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 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
30%-79% of people have these symptoms | ||
Arthralgia |
Joint pain
|
0002829 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Muscular |
Low or weak muscle tone
|
0001252 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Thin skin | 0000963 | |
5%-29% of people have these symptoms | ||
Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Increased connective |
0009025 | |
Mitral valve prolapse | 0001634 | |
Muscle fiber splitting | 0003555 | |
Precocious atherosclerosis | 0004416 | |
Proximal amyotrophy |
Wasting of muscles near the body
|
0007126 |
Spina bifida occulta | 0003298 | |
Stroke | 0001297 | |
Percent of people who have these symptoms is not available through HPO | ||
Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
0000007 | ||
Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ] |
0000813 |
Hiatus hernia |
Stomach hernia
|
0002036 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Joint subluxation | 0032153 | |
Quadricuspid aortic valve | 0031655 | |
Soft skin | 0000977 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] |
0000122 |
Vesicoureteral reflux | 0000076 |
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
-
Ehlers-Danlos Society
PO Box 87463
Montgomery Village, MD 20886
Telephone: 410-670-7577
E-mail: [email protected], https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/ -
Ehlers-Danlos Support UK
PO Box 748
Borehamwood , WD6 9HU United Kingdom
Toll-free: 0800 907 8518 (in the UK)
Telephone: 0208 736 5604
E-mail: [email protected]
Website: https://www.ehlers-danlos.org/ -
The Ehlers-Danlos Society – Europe Office
Office 7
35-37 Ludgate Hill
London, EC4M 7JN United Kingdom
Telephone: +44 203 887 6132
E-mail: [email protected], https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/ -
The Zebra Network
1122 Kenilworth Drive
Suite 307
Towson, MD 21204
Telephone: 410-825-0995
E-mail: [email protected]
Website: https://thezebranetwork.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Classical-like Ehlers-Danlos 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
- 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 Classical-like Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.
References
- Victor A. McKusick. EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY. In: Cassandra L. Kniffin. OMIM. 8/26/2014; https://omim.org/entry/606408. Accessed 11/8/2016.
- TNXB gene. Genetics Home Reference. November 2015; https://ghr.nlm.nih.gov/gene/TNXB. Accessed 11/8/2016.
- Levy, Howard P.. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReveiws. March 31, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1279/. Accessed 11/8/2016.
- Deborah P. Merke,corresponding author Wuyan Chen, Rachel Morissette, Zhi Xu, Carol Van Ryzin, Vandana Sachdev, Hwaida Hannoush, Sujata M. Shanbhag, Ana T. Acevedo, Miki Nishitani, Andrew E. Arai, Nazli B. McDonnell. Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. Jan. 2, 2013; 98(2):E379-E387. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565116/.