STXBP2 gene related symptoms and diseases
All the information presented here about the STXBP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STXBP2 gene
Symptoms // Phenotype | % Cases |
---|---|
Hepatosplenomegaly | Common - Between 50% and 80% cases |
Episodic fever | Common - Between 50% and 80% cases |
Increased serum ferritin | Common - Between 50% and 80% cases |
Hemophagocytosis | Common - Between 50% and 80% cases |
Abnormal natural killer cell physiology | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with STXBP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypertriglyceridemia
Not very common - Between 30% and 50% cases
- Albinism
- Pulmonary infiltrates
- Severe combined immunodeficiency
- Increased antibody level in blood
- Combined immunodeficiency
- Abnormality of the coagulation cascade
- Encephalitis
And 64 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STXBP2 gene
Here you will find a list of rare diseases related to the STXBP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
Alternate names
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS Is also known as familial hlh
Description
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.
More info about FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
SOURCES: ORPHANET
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5
Most common symptoms of HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5
- Hepatosplenomegaly
- Hypertriglyceridemia
- Episodic fever
- Increased serum ferritin
- Hemophagocytosis
More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1
Alternate names
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial, hlh1, hemophagocytic lymphohistiocytosis, familial, erythrophagocytic lymphohistiocytosis, familial, reticulosis, familial histiocytic, hplh1, fhl, fhlh, hplh, fel
Description
Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999).
Most common symptoms of HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Neoplasm
More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1
SOURCES: OMIM
Search interest in STXBP2
Potential gene panels for STXBP2 gene
STXBP2 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the STXBP2 gene.
More info about this panelHemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1
More info about this panelHemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panelSTXBP2 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the STXBP2 gene.
More info about this panelTier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel
By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1
More info about this panelSTXBP2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the STXBP2 gene.
More info about this panelSTXBP2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the STXBP2 gene.
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis 5 (sequence analysis of STXBP2 gene) Panel
By CGC Genetics
This panel specifically test the STXBP2 gene.
More info about this panelHemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) Panel
By CGC Genetics Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) that also includes the following genes: STX11 STXBP2 DCLRE1C UNC13D PRF1 RAG1 RAG2
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via STXBP2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the STXBP2 gene.
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis Panel Panel
By FirmaLab Familial Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panelSTXBP2 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the STXBP2 gene.
More info about this panelHLH/immunedisregulation panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht HLH/immunedisregulation panel that also includes the following genes: SH2D1A STX11 STXBP2 LYST UNC13D AP3B1 XIAP PRF1 RAB27A
More info about this panelHemophagocytic Lymphohistiocytosis panel Panel
By Centogene AG - the Rare Disease Company Hemophagocytic Lymphohistiocytosis panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panelHemophagocytic lymphohistiocytosis, familial type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the STXBP2 gene.
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelBone marrow failure syndromes Panel Panel
By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2
More info about this panelImmune dysregulation Panel Panel
By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11
More info about this panelaCGH Deletion/Duplication Analysis Panel
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panelHemophagocytic Lymphohistiocytosis 5 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the STXBP2 gene.
More info about this panelHemophagocytic Lymphohistiocytosis 5 Panel
By MedGene
This panel specifically test the STXBP2 gene.
More info about this panelInvitae Monogenic Autoimmunity Panel Panel
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panelInvitae Monogenic Inflammatory Bowel Disease Panel Panel
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panelInvitae Primary Immunodeficiency Panel Panel
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panelInvitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panelHemophagocytic lymphohistiocytosis, familial Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemophagocytic lymphohistiocytosis, familial that also includes the following genes: SH2D1A STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panelEarly Onset Inflammatory Bowel Disease: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panelEarly Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panelHemophagocytic Lymphohistiocytosis: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Familial Hemophagocytic Lymphohistiocytosis NGS Panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panelSTXBP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STXBP2 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panelHemophagocytic Lymphohistiocytosis Panel Panel
By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelBone Marrow Failure Syndrome Panel Panel
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelFamilial hemophagocytic lymphohistiocytosis 5 Panel
By Bioarray
This panel specifically test the STXBP2 gene.
More info about this panelFAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panelFAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS SANGER PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS SANGER PANEL that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis Type 5 , Sequencing STXBP2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the STXBP2 gene.
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel
By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panelInflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hemophagocytic Lymphohistiocytosis: gene sequencing panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1
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