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10 Possible Causes for Mutation in the Endoglin Gene, Telangiectasia on Lips and Oral Mucosa

  • Hereditary Hemorrhagic Telangiectasia

    In addition, genetic linkage studies and/or mutation analysis identified endoglin as the disease-causing gene in 6 of these families.[pediatrics.aappublications.org] Diagnosis HHT is a clinical diagnosis based on four features: Spontaneous, recurrent nosebleeds Telangiectasias of the lips, oral mucosa (inside the mouth), tongue, fingertips[texaschildrens.org] Skin and mucosa Telangiectasias of the skin and mucosa are common among patients with hereditary hemorrhagic telangiectasia and usually affect the face, lips, tongue, oral[cmaj.ca]

  • Pulmonary Arteriovenous Malformation

    The post-mortem molecular genetic analysis proved the presence of a disease-causing mutation in the endoglin gene constituting a predisposition for pulmonary AVMs.[ncbi.nlm.nih.gov] Examine the lips, tongue, oral mucosa, and fingertips for small red spots.[evtoday.com] Clinical disease was documented in her mother and sister, both of whom had undergone genetic testing that identified a deletion mutation in the endoglin gene (ENG).[consultqd.clevelandclinic.org]

  • Mucocutaneous Venous Malformations

    Type 1 is caused by mutations in the endoglin gene and type 2 is caused by mutations in the ALK-1 gene, both of which encode proteins that are involved in the proper development[hht.yale.edu] Multiple mucocutaneous telangiectasia involving fingertip, lips, oral mucosa, or tongue, Gastrointestinal, pulmonary, hepatic, cerebral, or spinal arterio-venous malformations[medcraveonline.com] HHT1 (Online Mendelian Inheritance in Man [OMIM] 187300) is caused by mutations in the ENG (endoglin) gene 72, 73 and is associated with a higher prevalence of pulmonary and[clinicalgate.com]

  • Pulmonary Arteriovenous Fistula

    Genetic analysis revealed a mutation in the endoglin gene. The patient was treated with embolotherapy with good clinical outcome.[jmedicalcasereports.biomedcentral.com] Examine the lips, tongue, oral mucosa, and fingertips for small red spots.[evtoday.com] Endoglin gene mutations lead to the clinical subtype of HHT-1, and mutations in the activin A receptor type II-like 1 gene ( ACVRL1 ) lead to the clinical subtype HHT-2.[emedicine.medscape.com]

  • Hereditary Coagulopathy

    Genetic testing of OWRD patients and their family members can confirm the presence of mutations within implicated genes, most commonly the endoglin gene ( ENG ) in chromosome[emedicine.medscape.com] People with this disorder have small red-to-violet telangiectatic lesions on the face, lips, oral and nasal mucosa, and tips of the fingers and toes.[msdmanuals.com] HHT is attributed to genetic mutations that involve signaling of TGF-β. [11] Defects in at least four genes are implicated in its development, [25] as follows: Mutations of[emedicine.medscape.com]

  • Telangiectasia Macularis Eruptiva Perstans

    Although HHT is a developmental disorder, caused due to mutation in germline genes, endoglin, and ALK‐1, infants are occasionally affected.[onlinelibrary.wiley.com] Similarly, telangiectasia mainly over the lips and oral mucosa and sometimes on the face and dorsum of the hands in association with a nosebleed are seen in HHT.[onlinelibrary.wiley.com]

  • Hereditary Hemorrhagic Telangiectasia Type 2

    Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum. Mol.[nature.com] Small red-to-violet lesions are found on the lips, oral and nasal mucosa, tongue, and tips of fingers and toes.[medical-dictionary.thefreedictionary.com] Cause: Mutations in one of the following genes: endoglin ENG , activin A receptor type II-like 1 ( ACVRL1 or ALK1 ), SMAD4 and perhaps other unidentified gene(s).[snpedia.com]

  • Edinburgh Malformation Syndrome

    Some mice carrying one normal and one mutated copy of the endoglin gene (that is, endoglin /- heterozygotes) display features of HHT. 49 Endoglin and ALK-1 encode proteins[pmj.bmj.com] The combination of nose bleeds, gastrointestinal bleeding, and iron deficiency anaemia associated with characteristic telangiectasia on the lips, oral mucosa, and fingertips[pmj.bmj.com] Mutations in two genes, endoglin and ALK-1 , have been shown to be responsible for HHT, with the disease subtypes designated HHT1 and HHT2, respectively.[pmj.bmj.com]

  • Papillomas in Perioral, Nasal and Anal Regions

    Hereditary hemorrhagic telangiectasia (HHT) 1 is caused by a mutation of the endoglin gene on chromosome 9.[jpbsonline.org] Telangiectasias of the mucosa and skin. Arteriovenous malformation involving the lungs, liver or CNS.[jpbsonline.org] Mutation of either one of two different genes at two separate loci is responsible for the condition.[jpbsonline.org]

  • Hypotrichosis - Lymphedema - Telangiectasia with Membranoproliferative Glomerulonephritis

    Can Med Assoc J 2009;180(8):839–839) Genetics • AD, mutations in genes involved in TGF-β transduction pathway: • HHT1 endoglin (ENG) • HHT2 Alk-1 (ACVRL1) Associations/comments[plasticsurgerykey.com] (pulmonary disease in type I type II) Cutaneous findings • Multiple macular/ “mat-like” telangiectasias most commonly on lips, oral mucosa , and extremities ( Fig. 10-2 )[plasticsurgerykey.com] Figure 10-2 Patient with HHT and multiple telangiectasias on tongue and lip.[plasticsurgerykey.com]

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