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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

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


Potential gene panels for STXBP2 gene

STXBP2 Sequencing Panel

United States.

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 panel
United States.

Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) Panel

United States.

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 panel
United States.

Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel

United States.

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 panel
United States.

STXBP2 Deletion/duplication analysis Panel

United States.

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 panel
United States.

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

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 panel
United States.

STXBP2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the STXBP2 gene.

More info about this panel
Germany.

STXBP2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the STXBP2 gene.

More info about this panel
Spain.

Familial Hemophagocytic Lymphohistiocytosis 5 (sequence analysis of STXBP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the STXBP2 gene.

More info about this panel
Portugal.

Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) Panel

Portugal.

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 panel
Portugal.

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via STXBP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the STXBP2 gene.

More info about this panel
United States.

Familial Hemophagocytic Lymphohistiocytosis Panel Panel

United States.

By FirmaLab Familial Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1 RAB27A

More info about this panel
United States.

STXBP2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the STXBP2 gene.

More info about this panel
Netherlands.

HLH/immunedisregulation panel Panel

Netherlands.

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 panel
Netherlands.

Hemophagocytic Lymphohistiocytosis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Hemophagocytic Lymphohistiocytosis panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1

More info about this panel
Germany.

Hemophagocytic lymphohistiocytosis, familial type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the STXBP2 gene.

More info about this panel
Germany.

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

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 panel
Germany.

Bone marrow failure syndromes Panel Panel

Germany.

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 panel
Germany.

Immune dysregulation Panel Panel

Germany.

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 panel
Germany.

aCGH Deletion/Duplication Analysis Panel

United States.

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 panel
United States.

Hemophagocytic Lymphohistiocytosis 5 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the STXBP2 gene.

More info about this panel
Austria.

Hemophagocytic Lymphohistiocytosis 5 Panel

Slovakia.

By MedGene

This panel specifically test the STXBP2 gene.

More info about this panel
Slovakia.

Invitae Monogenic Autoimmunity Panel Panel

United States.

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 panel
United States.

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

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 panel
United States.

Invitae Primary Immunodeficiency Panel Panel

United States.

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 panel
United States.

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel

United States.

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 panel
United States.

Hemophagocytic lymphohistiocytosis, familial Panel

Spain.

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 panel
Spain.

Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel

United States.

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 panel
United States.

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel

United States.

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 panel
United States.

Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel

United States.

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 panel
United States.

Familial Hemophagocytic Lymphohistiocytosis NGS Panel Panel

United States.

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 panel
United States.

STXBP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STXBP2 gene.

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

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 panel
Finland.

Hemophagocytic Lymphohistiocytosis Panel Panel

Finland.

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 panel
Finland.

Comprehensive Hematology Panel Panel

Finland.

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 panel
Finland.

Bone Marrow Failure Syndrome Panel Panel

Finland.

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 panel
Finland.

Familial hemophagocytic lymphohistiocytosis 5 Panel

Spain.

By Bioarray

This panel specifically test the STXBP2 gene.

More info about this panel
Spain.

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS that also includes the following genes: STX11 STXBP2 UNC13D PRF1

More info about this panel
Spain.

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS SANGER PANEL Panel

Spain.

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 panel
Spain.

Familial Hemophagocytic Lymphohistiocytosis Type 5 , Sequencing STXBP2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the STXBP2 gene.

More info about this panel
Spain.

Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

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 panel
Spain.

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

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 panel
Spain.

Familial Hemophagocytic Lymphohistiocytosis: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hemophagocytic Lymphohistiocytosis: gene sequencing panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1

More info about this panel
Canada.

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