Details of Disease

General Information of Disease (ID: DISHFROI)

Disease Name Sea-blue histiocyte syndrome
Synonyms inherited Lipemic splenomegaly; sea-blue histiocytosis; SEA-blue histiocyte disease; histiocytosis, Sea-blue
Definition
A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.
Disease Hierarchy
DISPGGVL: Syndromic dyslipidemia
DISEC08E: Sphingolipidosis
DIS6JEVM: Non-Langerhans cell histiocytosis
DISHFROI: Sea-blue histiocyte syndrome
Disease Identifiers
MONDO ID
MONDO_0010017
MESH ID
D012618
UMLS CUI
C0036489
OMIM ID
269600
MedGen ID
19908
HPO ID
HP:0001982
Orphanet ID
158029
SNOMED CT ID
37821003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APOE TTKS9CB Supportive Autosomal dominant [1]
APOE TTKS9CB Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APOE OTFOWL2H Supportive Autosomal dominant [1]
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References

1 Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. J Clin Endocrinol Metab. 2000 Nov;85(11):4354-8. doi: 10.1210/jcem.85.11.6981.
2 An atlas of genetic influences on human blood metabolites.Nat Genet. 2014 Jun;46(6):543-550. doi: 10.1038/ng.2982. Epub 2014 May 11.