STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 GeneticVariation phenotype BEFREE Earlier initiation of anakinra (≤5 days hospitalization) was associated with reduced mortality (p=0.046), whereas thrombocytopenia (<100,000/μL) and STXBP2 mutations were both associated with increased mortality (p=0.008 and p=0.012, respectively). 31513353 2020
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 Biomarker disease BEFREE Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation. 31807395 2019
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.010 GeneticVariation group BEFREE This is the first case report in which adult HLH was associated with novel digenic mutations of STXBP2 and LYST combined with Epstein-Barr virus infection. 30782130 2019
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.010 GeneticVariation disease BEFREE This unusual relationship directs toward a specific gene mutation of STXBP2 as the cause of chronic diarrhea in familial HLH. 31807395 2019
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 Biomarker disease BEFREE Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation. 31807395 2019
CUI: C3854388
Disease: Hyperferritinaemia
Hyperferritinaemia 		0.010 GeneticVariation disease BEFREE The second and third patients with homozygous splice site mutation (c.430-1G>A) in STXBP2 were siblings who presented at birth with fevers, elevated aspartate aminotransferase, alanine aminotransferase, and hyperferritinemia but did not fulfill FHL criteria. 31651726 2019
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		0.010 Biomarker disease BEFREE Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation. 31807395 2019
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		0.010 Biomarker phenotype BEFREE Despite that, we found that Munc18-2 cKO mice were significantly protected from anaphylaxis. 29599294 2018
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		0.010 GeneticVariation group BEFREE Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. 28724787 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation disease BEFREE STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese. 28380445 2017
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		0.010 Biomarker disease BEFREE Here, we describe the molecular mechanism how the loss of function of Munc18-2 leads to cargo-selective mislocalization of brush-border components and a subapical accumulation of cargo vesicles, as it is known from the loss of polarity phenotype in MVID. 28724787 2017
CUI: C0002871
Disease: Anemia
Anemia 		0.010 Biomarker disease BEFREE Even though patients with FHL-5 present with anemia and hemolysis, no link between the disease and the erythroid lineage has been established. 26320718 2015
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.010 GeneticVariation disease BEFREE Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. 25491289 2015
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.010 GeneticVariation group BEFREE The Sec/Munc protein, Munc18-2, and its binding partner Syntaxin 11 (STX11) are both required for granule secretion, with mutations in either leading to the primary immunodeficiency, Familial Haemophagocytic Lymphohistiocytosis (FHL4 and 5). 26771955 2015
CUI: C4289792
Disease: Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form 		0.010 GeneticVariation disease BEFREE Here we report a patient with prolonged severe CAEBV who underwent bone marrow transplant for his disease and subsequently was found to have compound heterozygous mutations in STXBP2 (MUNC18-2) as well as a heterozygous mutation in PRF1 (perforin 1). 25947952 2015
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.010 GeneticVariation disease BEFREE Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. 25491289 2015
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.010 Biomarker disease BEFREE Heterozygous protein-altering rare variants in the known genes (LYST,MUNC13-4, and STXBP2) were found in 5 of 14 patients with systemic JIA and MAS (35.7%). 25047945 2014
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.010 Biomarker disease BEFREE Heterozygous protein-altering rare variants in the known genes (LYST,MUNC13-4, and STXBP2) were found in 5 of 14 patients with systemic JIA and MAS (35.7%). 25047945 2014
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 AlteredExpression group BEFREE Despite defective immunity and a hyper-inflammatory state, clinical findings such as neurological, gastrointestinal, and bleeding disorders are present in a significant number of patients and suggest an impaired expression and function of STXBP2 in cells other than cytotoxic lymphocytes. 23382066 2013
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 Biomarker group BEFREE Thus, the data suggest a link between defective lymphocyte exocytosis and development of lymphoma in STXBP2-deficient patients. 23100279 2013
CUI: C0267556
Disease: Osmotic diarrhea
Osmotic diarrhea 		0.010 GeneticVariation disease BEFREE Mutations in STXBP2 do not only affect cytotoxic T lymphocytes but also cause changes in the intestinal and renal epithelium resulting in severe, osmotic diarrhea and renal proximal tubular dysfunction. 23382066 2013
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE Despite defective immunity and a hyper-inflammatory state, clinical findings such as neurological, gastrointestinal, and bleeding disorders are present in a significant number of patients and suggest an impaired expression and function of STXBP2 in cells other than cytotoxic lymphocytes. 23382066 2013
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 Biomarker disease BEFREE Thus, the data suggest a link between defective lymphocyte exocytosis and development of lymphoma in STXBP2-deficient patients. 23100279 2013
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 Biomarker disease BEFREE Thus, the data suggest a link between defective lymphocyte exocytosis and development of lymphoma in STXBP2-deficient patients. 23100279 2013
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma 		0.010 GeneticVariation disease BEFREE Here, we describe an Epstein-Barr virus-positive classical Hodgkin's lymphoma in a patient harboring biallelic mutations in STXBP2, a gene required for exocytosis of perforin-containing lytic granules and associated with familial hemophagocytic lymphohistocytosis. 23100279 2013