HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
|
28353193 |
2017 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
|
27577878 |
2017 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
Biomarker
|
disease |
BEFREE |
Most recently, STXBP2 has been identified as the causative gene of type 5 FHL (FHL5) with a worldwide distribution.
|
26451869 |
2016 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical characteristics and genetic analysis of childhood acute lymphoblastic leukemia with hemophagocytic lymphohistiocytosis: a Japanese retrospective study by the Kyushu-Yamaguchi Children's Cancer Study Group.
|
24827398 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
|
24194549 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
|
24194549 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.
|
23687090 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
|
23382066 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
|
22451424 |
2012 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
|
20558610 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
|
20823128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
|
20823128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
|
20558610 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
|
19884660 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
|
19804848 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
|
19884660 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
|
19804848 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
|
19804848 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We report an STXBP2 homozygous missense mutation c.1139A>G, p.(Gln380Arg) consistent with a genetic diagnosis of familial hemophagocytic lymphohistiocytosis type 5 associated with chronic diarrhea in a seven-year-old girl.
|
31807395 |
2019 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
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 |