Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	1304744
Species:	Rattus norvegicus
RGD Object:	Gene
Symbol:	Stx11
Name:	syntaxin 11

Acc ID:	DOID:9004404
Term:	Familial Hemophagocytic Lymphohistiocytoses
Definition:	Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is 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. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Stx11		ISO	STX11 (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis	PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 PMID:28492532 PMID:36706356

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