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3,067 Possible Causes for Mutation in the Tight Junction Protein 2 Gene, Splenomegaly

  • Progressive Familial Intrahepatic Cholestasis

    […] cholesterol cholelithiasis • MDR3 disease PFIC3 presents during infancy with pruritus, jaundice, pale stools, hepatomegaly, or complications of portal hypertension, such as splenomegaly[basicmedicalkey.com] It results from mutations in the TJP2 gene, which is responsible for the production of the tight junction protein 2, also known as zona occludens 2 (ZO-2).[symptoma.com] […] jaundice Dark urine Physical See the list below: Pruritus Scratching Cutaneous mutilation Irritability in infants Jaundice Scleral icterus Cutaneous jaundice Hepatomegaly Splenomegaly[emedicine.medscape.com]

  • Infectious Mononucleosis

    Clinical estimates of splenomegaly are fallible.[ncbi.nlm.nih.gov] […] inguinal or axillary adenopathy (specificity range, 0.82-0.91; positive LR range, 3.0-3.1), palatine petechiae (specificity, 0.95; positive LR, 5.3 [95% CI, 2.1-13]), and splenomegaly[doi.org] In adolescent and adult patients presenting with sore throat, the presence of posterior cervical, inguinal or axillary adenopathy, palatine petechiae, splenomegaly, or atypical[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Liver Cirrhosis

    We performed LS in 83 patients with massive splenomegaly ( 30 cm) secondary to portal hypertension and liver cirrhosis.[ncbi.nlm.nih.gov] Esophageal varices and splenomegaly regressed after 3 and 8 years of sustained virologic responses in cases 1 and 2, respectively.[ncbi.nlm.nih.gov] Quantitative CTTA features may increase the accuracy of diagnosing causes of splenomegaly. Copyright 2018 Elsevier B.V. All rights reserved.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Heart Failure

    Some of the extracardiac signs of heart failure are ascites, bronchial wheezing, hydrothorax, edema, liver enlargement, moist rales, and splenomegaly.[medical-dictionary.thefreedictionary.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Hemochromatosis

    Regression on SF revealed significant associations: TS; male sex; age; GGT; transfusion units (positive); and splenomegaly (negative) (p 0.0001, 0.0016, 0.0281, 0.0025, 0.0001[ncbi.nlm.nih.gov] Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital.[ncbi.nlm.nih.gov] An abnormally enlarged spleen (splenomegaly) may also occur. Additional symptoms occur depending on the specific organs involved.[rarediseases.org]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Non-Hodgkin Lymphoma

    Computed tomography scan of the chest and abdomen showed paratracheal and subcarinal lymphadenopathy and splenomegaly, with the findings being compatible with lymphoma.[ncbi.nlm.nih.gov] Splenomegaly. Hepatomegaly. Intermediate- and high-grade lymphomas: Most patients present with rapidly growing and bulky lymphadenopathy.[patient.info] Splenomegaly is observed in approximately 40% of patients; the spleen is rarely the only involved site at presentation.[emedicine.medscape.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Portal Cirrhosis

    Liver cirrhosis: Liver cirrhosis with an inhomogeneous liver with irregular contour and ascites and splenomegaly Liver cirrhosis: Liver cirrhosis with an irregular liver contour[ultrasoundcases.info] Splenomegaly (enlarged spleen) e. Hepatic encephalopathy (drowsiness or confusion due to inability of the liver to break down toxins in the blood) f.[singhealth.com.sg] DIAGNOSIS Can be asymptomatic for decades History Physical findings: Hepatomegaly, jaundice, ascites, spider angioma, splenomegaly, palmar erythema, fetor hepaticus, purpura[slideshare.net]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Hereditary Spherocytosis

    Due to the membrane defect, there is increased fragility, hemolytic anemia, marked splenomegaly and hyperbilirubinemia.[ncbi.nlm.nih.gov] MATERIALS AND METHODS: A retrospective review was conducted to evaluate all SILS for splenomegaly performed by a single surgeon.[ncbi.nlm.nih.gov] PSMA-targeted F-DCFPyL PET/CT was performed, which demonstrated recurrent disease in the prostatectomy bed as well as splenomegaly and mild-diffuse bone marrow activation,[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Hepatitis

    Dehydration with drying of mucous membranes Telangiectasis (spider angiomata) and esophageal varices Jaundice Ascites Utricarial rashes Portal Hypertension Hepatomegaly and Splenomegaly[symptoma.com] Mild splenomegaly occurs in 15 to 20% of patients. Jaundice usually peaks within 1 to 2 wk. Recovery phase: During this 2- to 4-wk period, jaundice fades.[merckmanuals.com] Physical examination may be without pathological findings, but may also reveal hepatomegaly, splenomegaly, jaundice, and signs and symptoms of chronic liver disease[ 1 9 ][doi.org]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Alcoholic Liver Disease

    Splenomegaly : Portal hypertension causes the spleen to enlarge (a condition called splenomegaly).[msdmanuals.com] […] steatosis (fatty liver) From the collection of Dr McClain; used with permission History & Exam Key Factors abdominal pain hepatomegaly hematemesis and melena venous collaterals splenomegaly[online.epocrates.com] If done for other reasons, abdominal ultrasonography or CT may suggest fatty liver or show splenomegaly, evidence of portal hypertension , or ascites.[merckmanuals.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene

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