Rare Immunology News

Disease Profile

Hereditary hemorrhagic telangiectasia type 2

Prevalence
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

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

HHT2; Osler Weber Rendu syndrome type 2; Telangiectasia hereditary hemorrhagic type 2;

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 anemia
0001935
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Portal hypertension
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
Seizure
0001250
Subarachnoid hemorrhage
0002138
Transient ischemic attack
Mini stroke
0002326
Venous thrombosis
Blood clot in vein
0004936
Percent of people who have these symptoms is not available through HPO
Anemia
Low number of red blood cells or hemoglobin
0001903
Autosomal dominant inheritance
0000006
Brain abscess
0030049
Cerebral arteriovenous malformation
0002408
Choriocapillaris atrophy
0030491
Clubbing
Clubbing of fingers and toes
0001217
Cyanosis
Blue discoloration of the skin
0000961
Dyspnea
Trouble breathing
0002094
Fingerpad telangiectases
Small dilated blood vessels in fingerpads
0006107
Gastrointestinal angiodysplasia
0000471
Gastrointestinal arteriovenous malformation
0002629
Gastrointestinal telangiectasia
Small, enlarged blood vessels near skin
0002604
Hematemesis
Vomitting blood
0002248
Hematochezia
Rectal bleeding
0002573
Hepatic arteriovenous malformation
0006574
Hypertension
0000822
Ischemic stroke
0002140
Lip telangiectasia
0000214
Melena
0002249
Nail bed telangiectasia
0001232
Nasal mucosa telangiectasia
Spider veins of mucosa of nose
Spider veins of mucous membrane of nose
Spider veins of nasal mucous membrane

[ more ]

0000434
Palate telangiectasia
Telangiectasia of the roof of the mouth
0002707
Polycythemia
Increased red blood cells
0001901
Pulmonary arteriovenous malformation
0006548
Right-to-left shunt
0001694
Spinal arteriovenous malformation
0002390
Spontaneous, recurrent epistaxis
Recurring nosebleed
Spontaneous, recurrent nosebleed

[ more ]

0004406
Tongue telangiectasia
0000227

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 Providing General Support

      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

        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.
          Orphanet
          Orphanet
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary hemorrhagic telangiectasia type 2. Click on the link to view a sample search on this topic.