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Disease Profile
Hereditary hemorrhagic telangiectasia type 3
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
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ICD-10
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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)
HHT3; Osler Weber Rendu syndrome type 3; Telangiectasia hereditary hemorrhagic type 3;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
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 | ||
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] |
0000421 |
Telangiectasia of the skin | 0100585 | |
30%-79% of people have these symptoms | ||
Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
Cholecystitis |
Gallbladder inflammation
|
0001082 |
Microcytic |
0001935 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Portal |
0001409 | |
Spontaneous hematomas | 0007420 | |
Visceral angiomatosis | 0100761 | |
5%-29% of people have these symptoms | ||
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Cerebral hemorrhage |
Bleeding in brain
|
0001342 |
Cholelithiasis |
Gallstones
|
0001081 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Conjunctival telangiectasia |
Small dilated blood vessels near membrane covering front of eye and eyelids
|
0000524 |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Hematuria |
Blood in urine
|
0000790 |
Hemoptysis |
Coughing up blood
|
0002105 |
Hepatic failure |
Liver failure
|
0001399 |
Intestinal polyposis | 0200008 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Peripheral arteriovenous fistula | 0100784 | |
Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Retinal telangiectasia | 0007763 | |
0001250 | ||
Subarachnoid hemorrhage | 0002138 | |
Transient ischemic attack |
Mini stroke
|
0002326 |
Venous thrombosis |
Blood clot in vein
|
0004936 |
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 Providing General Support
-
The Aneurysm and AVM Foundation (TAAF)
182 Howard St.
Box 715
San Francisco, CA 94105
Telephone: (510) 464-4540
Fax: (510) 464-4540
E-mail: [email protected]
Website: https://taafonline.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 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.
- The Brain Vascular Malformation Consortium has information and frequently asked questions about Hereditary hemorrhagic telangiectasia type 3 for patients and their families.
Learn More About Hereditary Hemorrhagic Telangiectasia (HHT)
Frequently Asked Questions about HHT
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 Hereditary hemorrhagic telangiectasia type 3. Click on the link to view a sample search on this topic.