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Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
Telangiectasia ataxia variant V1; Telangiectasia, hereditary hemorrhagic; Telangiectasia; Telecanthus hypertelorism pes cavus; Telecanthus with associated abnormalities; Telencephalic leukoencephalopathy; Telfer–Sugar–Jaeger syndrome; Temporal epilepsy, familial; Temporomandibular ankylosis; Temporomandibular joint dysfunction (TMJ) Temtamy ...
Here are links to possibly useful sources of information about Hereditary hemorrhagic telangiectasia. PubMed provides review articles from the past five years (limit to free review articles) The TRIP database provides clinical publications about evidence-based medicine. Other potential sources include: Centre for Reviews and Dissemination and CDC
In contrast, loss-of-function (LOF) mutations in SMAD4 predispose individuals to gastrointestinal polyps, a higher risk of colorectal cancer, and a risk of forming arteriovenous malformations (AVM) a hallmark manifestation of hereditary hemorrhagic telangiectasia (HHT). [8] Patients also have external phenotypes similar to Marfan syndrome. [9]
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) Ataxia–telangiectasia Sturge–Weber syndrome , a nevus formation in the skin supplied by the trigeminal nerve and associated with facial port-wine stains, glaucoma , meningeal angiomas and intellectual disabilities
In humans endoglin may be involved in the autosomal dominant disorder known as hereditary hemorrhagic telangiectasia (HHT) type 1. [9] HHT is actually the first human disease linked to the TGF beta receptor complex. [ 22 ]
Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease; Hilbert–Huang transform; Hiphop Tamizha, an Indian musical duo; Historic House Trust of New York City; Historic Houses Trust, New South Wales; Omega-hydroxypalmitate O-feruloyl transferase, an enzyme; Howard Thompson (film critic), who wrote under the pen name HHT
4089 17128 Ensembl ENSG00000141646 ENSMUSG00000024515 UniProt Q13485 P97471 RefSeq (mRNA) NM_005359 NM_008540 NM_001364967 NM_001364968 RefSeq (protein) NP_005350 NP_032566 NP_001351896 NP_001351897 Location (UCSC) Chr 18: 51.03 – 51.09 Mb Chr 18: 73.77 – 73.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SMAD4, also called SMAD family member 4, Mothers against decapentaplegic ...