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2,051 Possible Causes for Chest X-Ray Abnormal, Mutation in the Endoglin Gene, Pharyngeal Hemorrhage

  • 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] […] appearance of the lungs on a chest X-ray, or hypoxia (low oxygen levels) on pulse oximetry or arterial blood gas determination.[en.wikipedia.org] A genetic test, identifying the mutation in endoglin gene both in the patient and in the father, confirmed the suspected diagnosis of HHT.[ncbi.nlm.nih.gov]

  • Throat Cancer

    Chest X-ray If your doctor suspects that the cancer has spread to your lungs, you’ll need a chest X-ray to check for abnormalities.[healthline.com] This test creates X-ray images of your throat and esophagus.[healthline.com]

    Missing: Mutation in the Endoglin Gene
  • Pharyngeal Carcinoma

    Chest X-ray If your doctor suspects that the cancer has spread to your lungs, you’ll need a chest X-ray to check for abnormalities.[healthline.com] This test creates X-ray images of your throat and esophagus.[healthline.com]

    Missing: Mutation in the Endoglin Gene
  • 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] Abnormality on chest x-ray is common with cardiomegaly, oligemia, and focal pulmonary density. There is a male predominance, unlike older children and adults with PAVM.[link.springer.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]

    Missing: Pharyngeal Hemorrhage
  • Adenovirus Infection

    The spread of infection in mucosal membrane of urinary tract follows hemorrhagic cystitis and urinary tract infection .[epainassist.com] […] disease 1, 2, 4-6 Pharyngoconjunctival fever 3, 7 (B) Hemorrhagic cystitis 7, 11, 21 (B) Diarrhea 2, 3, 5, 40, 41 (F) Intussussception 1, 2, 4, 5 Meningoencephalitis 2, 6[slideshare.net] Disease Caused by Adenovirus Infections Upper Respiratory Tract Diseases Caused by Adenovirus Infection- Tonsillitis , Adenoiditis, Pharyngitis and Bronchitis Laryngotracheobronchitis[epainassist.com]

    Missing: Mutation in the Endoglin Gene
  • Infectious Mononucleosis

    The hemorrhagic pharyngeal tonsils with hot signals on 18F-fluorodeoxyglucose-positron emission tomography-computed tomography were biopsied revealing the presence of EBV-encoded[ncbi.nlm.nih.gov]

    Missing: Mutation in the Endoglin Gene
  • Pulmonary Hemangioma

    […] for HHT at chromosome 9q3 codes for endoglin, a binding membrane glycoprotein of vascular endothelial cells in arterioles, venules, and capillaries. 18 The mutation of endoglin[pmj.bmj.com] In January 2003, a 73-year-old female presented with abnormal chest X-ray findings.[kjim.org] Chest X-ray and CT-scan did not show any abnormality in the second patient.[nature.com]

    Missing: Pharyngeal Hemorrhage
  • Pulmonary Hypertension

    Mutations in BMPR2 gene (2q33) and also in ACVRL1 (12q13), Endoglin (9q34), CAV1 (7q31), KCNK3 (2p23), Smad9 (13q12) and TBX4 (17q21)have been described in heritable PAH.[orpha.net] One or more of the following tests may be done if pulmonary hypertension is suspected: A chest x-ray may show heart enlargement and abnormal lung vessels.[circ.ahajournals.org] An ECG may show some abnormalities that may be suggestive of right heart failure. Chest x-ray may also show enlargement of the chambers of the right heart.[medicinenet.com]

    Missing: Pharyngeal Hemorrhage
  • Pulmonary Arteriovenous Fistula

    Therefore, the presence of P-AVF in stroke patients who have normal physical findings and no chest x ray abnormalities cannot be excluded.[jnnp.bmj.com] Genetic analysis revealed a mutation in the endoglin gene. The patient was treated with embolotherapy with good clinical outcome.[jmedicalcasereports.biomedcentral.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]

    Missing: Pharyngeal Hemorrhage
  • Viral Pneumonia

    They might order a chest X-ray or blood tests, but neither are necessary to make the diagnosis. How Is Pneumonia Treated?[kidshealth.org] Adenoviruses of 52 serotypes can be the cause of asymptomatic infections, pharyngitis, keratoconjunctivitis, gastroenteritis, hemorrhagic cystitis, meningoencephalitis, hepatitis[scielo.br] They'll check a child's appearance, breathing pattern, and vital signs, and listen to the lungs for abnormal sounds.[kidshealth.org]

    Missing: Mutation in the Endoglin Gene