Hereditary hemorrhagic telangiectasia
... (HHT), also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a rare ... Shovlin CL (2010). "Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment" (PDF). Blood Rev. 24 (6 ... hereditary hemorrhagic telangiectasia)". Bull. Johns Hopkins Hosp. 20: 63-73. (Articles with short description, Short ... a new operative procedure for control of nosebleeds in patients with hereditary hæmorrhagic telangiectasia". J. Laryngol. Otol ...
Arteriovenous malformation
They are most commonly associated with hereditary hemorrhagic telangiectasia. AVMs are usually congenital and are part of the ... ISBN 978-0-07-145739-2. "Hereditary hemorrhagic telangiectasia: MedlinePlus Genetics". medlineplus.gov. Retrieved July 23, 2022 ... such as hereditary hemorrhagic telangiectasia. In the circulatory system, arteries carry blood away from the heart to the lungs ... Von Hippel-Lindau disease or hereditary hemorrhagic telangiectasia).[citation needed] AVMs have been shown to be associated ...
Arteriovenous fistula
Hereditary hemorrhagic telangiectasia is a condition where there is direct connection between arterioles and venules without ... Meier NM, Foster ML, Battaile JT (June 2018). "Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations ...
Henry Gawen Sutton
Fuchizaki U, Miyamori H, Kitagawa S, Kaneko S, Kobayashi K (November 2003). "Hereditary haemorrhagic telangiectasia (Rendu- ... to the understanding of rheumatic fever and is credited with an early description of hereditary haemorrhagic telangiectasia ( ...
Frederick Parkes Weber
Fuchizaki U, Miyamori H, Kitagawa S, Kaneko S, Kobayashi K (November 2003). "Hereditary haemorrhagic telangiectasia (Rendu- ... telangiectasia), as well as the oral, nasal and gastrointestinal mucous membranes. Named with Henri Jules Louis Marie Rendu and ...
GDF2
Mutations in ALK1 and endoglin cause hereditary hemorrhagic telangiectasia (HHT), a rare but life-threatening genetic disorder ... McDonald J, Bayrak-Toydemir P, Pyeritz RE (Jul 2011). "Hereditary hemorrhagic telangiectasia: an overview of diagnosis, ... "BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia". American ... have been identified in patients with a vascular disorder phenotypically overlapping with hereditary hemorrhagic telangiectasia ...
ACVRL1
Mutations in this gene are associated with hereditary hemorrhagic telangiectasia (HHT) type 2, also known as Rendu-Osler-Weber ... GeneReviews/NCBI/NIH/UW entry on Hereditary Hemorrhagic Telangiectasia Human ACVRL1 genome location and ACVRL1 gene details ... "Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families". American ... hereditary hemorrhagic telangiectasia type 2 (Rendu-Osler-Weber syndrome 2) Pulmonary arteriovenous malformations Somatic ...
Alan Edward Guttmacher
A major research interest has been the disease, hereditary hemorrhagic telangiectasia. Guttmacher received his A.B. degree in ... Guttmacher, A.E, Marchuk, D.A., Pyeritz, R.E. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Emory and ... Diagnostic Criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Amer J Med Genetics, 91:66-67. 2000 ... Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin ...
Henri Jules Louis Marie Rendu
Rendu-Osler-Weber disease: A syndrome also known as hereditary hemorrhagic telangiectasia. Eponym named in conjunction with ...
List of genetic disorders
December 2020). "Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia". ... "Hereditary disorder found in Que. families". CTV News. 4 December 2008. Archived from the original on 2008-12-07. "OMIM Entry ...
Esophageal motility disorder
... a syndrome mimicking hereditary hemorrhagic telangiectasia". Bulletin of the Johns Hopkins Hospital 114: 31-83. PMID 14171636. ... sclerodactyly and telangiectasia. Symptoms of EMD can include chest pain, and intermittent dysphagia for solids, liquids, or ... "Multiple telangiectasia, Raynaud's phenomenon, sclerodactyly, and subcutaneous calcinosis: ...
CREST syndrome
... a syndrome mimicking hereditary hemorrhagic telangiectasia". Bulletin of the Johns Hopkins Hospital. 114: 361-83. PMID 14171636 ... Marked telangiectasias (dilated capillaries) occur on the skin of the face, the palmar surface of the hands, and the mucous ... Telangiectasias tend to be more numerous in people with other scleroderma related vascular disease (i.e., pulmonary arterial ... Winterbauer RH (1964). "Multiple telangiectasia, Raynaud's phenomenon, sclerodactyly, and subcutanious calcinosis: ...
Chris Madden (designer)
Madden was diagnosed with hereditary hemorrhagic telangiectasia, a rare genetic disorder, during her thirties. In 1974, she ...
Nonthrombocytopenic purpura
Examples/causes include: Henoch-Schönlein purpura Hereditary hemorrhagic telangiectasia Congenital cytomegalovirus ...
Hemoptysis
Endoglin
GeneReviews/NCBI/NIH/UW entry on Hereditary Hemorrhagic Telangiectasia CD105+Antigen at the U.S. National Library of Medicine ... In humans endoglin may be involved in the autosomal dominant disorder known as hereditary hemorrhagic telangiectasia (HHT) type ... is the gene for hereditary haemorrhagic telangiectasia type 1" (PDF). Nature Genetics. 8 (4): 345-51. doi:10.1038/ng1294-345. ...
Cerebral arteriovenous malformation
There is a significant preponderance (15-20%) of AVM in patients with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu ...
Pericyte
... a paradigm for hereditary haemorrhagic telangiectasia". Development. 131 (24): 6237-47. doi:10.1242/dev.01529. PMID 15548578. ...
OWR
... see hereditary hemorrhagic telangiectasia; Omega West Reactor, an experimental nuclear reactor located at Los Alamos National ...
Nosebleed
Vascular Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) Angioma Aneurysm of the carotid artery The nasal ...
Intracranial aneurysm
... hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome types II and IV. Specific genes have also had reported ... This can be because of acquired disease or hereditary factors. The repeated trauma of blood flow against the vessel wall ... Saccular aneurysms are almost always the result of hereditary weaknesses in blood vessels and typically occur within the ...
Telangiectasia
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) Ataxia-telangiectasia Sturge-Weber syndrome, a nevus ... Because telangiectasias are vascular lesions, they blanch when tested with diascopy. Telangiectasias, aside from presenting in ... sclerodactyly and telangiectasia. The causes of telangiectasia can be divided into congenital and acquired factors. Goldman ... Telangiectasias on the face are often treated with a laser. Laser therapy uses a light beam that is pulsed onto the veins in ...
List of diseases (T)
... hereditary hemorrhagic Telangiectasia Telecanthus hypertelorism pes cavus Telecanthus with associated abnormalities ... with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly syndrome Telangiectasia ataxia variant V1 Telangiectasia, ... limb deficiency hemangioma Transverse myelitis TRAPS Treacher Collins syndrome Treft-Sanborn-Carey syndrome Tremor hereditary ... multiple familial Trichofolliculloma Tricho-hepato-enteric syndrome Trichomalacia Trichomegaly cataract hereditary ...
Chromosome 9
William Osler
Osler-Weber-Rendu disease (also known as hereditary hemorrhagic telangiectasia) is a syndrome of multiple vascular ...
Hematuria
... hereditary hemorrhagic telangiectasias, renal vein thrombosis in newborns. Urinary stones. Coagulation disorders. Mechanical ... Glomerular causes include: IgA nephropathy Thin glomerular basement membrane disease Hereditary nephritis (Alport's disease) ...
Johns Hopkins School of Medicine
... a hereditary hemorrhagic telangiectasia Monica E. Peek, Ellen H. Block Professor for Health Justice and Associate Vice Chair ... endocrinologist who discovered Albright's hereditary osteodystrophy and McCune-Albright syndrome Dorothy Hansine Andersen, ...
Marburg virus disease
... hereditary hemorrhagic telangiectasia, Kawasaki disease, and even warfarin intoxication. The most important indicator that may ... "Marburg haemorrhagic fever". Health Topics A to Z. Retrieved 2011-09-25. "Outbreak Table , Marburg Hemorrhagic Fever , CDC". ... "Marburg hemorrhagic fever outbreak continues in Uganda". October 2012. "WHO , Marburg haemorrhagic fever in Uganda - update". ... Marburg virus disease (MVD; formerly Marburg hemorrhagic fever) is a viral hemorrhagic fever in human and non-human primates ...
Angioma
Glomus tumor Vascular ectasias Naevus flammeus Telangiectasia - Spider, Hereditary hemorrhagic Reactive vascular proliferations ...
Mothers against decapentaplegic homolog 4
GeneReviews/NCBI/NIH/UW entry on Hereditary Hemorrhagic Telangiectasia GeneReviews/NCBI/NIH/UW entry on Juvenile Polyposis ...