Details of Disease

General Information of Disease (ID: DIS3TMN4)

Disease Name Hemophagocytic syndrome
Synonyms
FHL; familial erythrophagocytic lymphohistiocytosis; hemophagocytic disorder; familial histiocytic reticulosis; haemophagocytic syndrome; familial hemophagocytic lymphohistiocytosis; hemophagocytic syndrome; Hemophagocytic Lymphohistiocytosis; HLH; hemophagocytic lymphohistiocytosis
Definition
Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).|Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS57XO9: Lymphatic disease
DIS3TMN4: Hemophagocytic syndrome
Disease Identifiers
MONDO ID
MONDO_0015540
MESH ID
D051359
UMLS CUI
C3887558
MedGen ID
854411
Orphanet ID
158032

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APCS TTB7VAT moderate Altered Expression [1]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP3B1 OTYTIH5Q moderate Biomarker [2]
FGL1 OTT0QHQ1 moderate Biomarker [2]
HPS1 OTKS5I7T moderate Biomarker [2]
RAB27A OT9SQRWY moderate Genetic Variation [3]
ATF5 OT03QCLM Strong Altered Expression [1]
HAVCR2 OTOL603T Strong Biomarker [4]
LYST OTIUB1B3 Strong Genetic Variation [5]
SH2D1A OTLU49I5 Definitive Altered Expression [1]
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⏷ Show the Full List of 8 DOT(s)

References

1 Up-regulation of activating transcription factor-5 suppresses SAP expression to activate T cells in hemophagocytic syndrome associated with Epstein-Barr virus infection and immune disorders.Am J Pathol. 2008 Nov;173(5):1397-405. doi: 10.2353/ajpath.2008.080440. Epub 2008 Oct 2.
2 Nontuberculous Mycobacterium infection complicated with Haemophagocytic syndrome: a case report and literature review.BMC Infect Dis. 2019 May 9;19(1):399. doi: 10.1186/s12879-019-4061-9.
3 Rab27a negatively regulates phagocytosis by prolongation of the actin-coating stage around phagosomes.J Biol Chem. 2011 Feb 18;286(7):5375-82. doi: 10.1074/jbc.M110.171702. Epub 2010 Dec 18.
4 Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29.
5 Atypical Chdiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46.