Details of Disease

General Information of Disease (ID: DISO1F4Y)

Disease Name Letterer-Siwe disease
Synonyms
L-S disease; histiocytosis X, acute disseminated; multifocal multisystem Langerhans cell histiocytosis; acute and disseminated Langerhans cell histiocytosis; acute disseminated Langerhans cell histiocytosis; letterer-Siwe disease
Definition
A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.
Disease Hierarchy
DIS1C04U: Langerhans cell histiocytosis specific to childhood
DISO1F4Y: Letterer-Siwe disease
Disease Identifiers
MONDO ID
MONDO_0009519
MESH ID
D006646
UMLS CUI
C0023381
OMIM ID
246400
MedGen ID
7311
SNOMED CT ID
118614007

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
OAT TTTSCQ2 Definitive Biomarker [1]
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References

1 Increased expression of growth factor genes for macrophages and fibroblasts in bronchoalveolar lavage cells of a patient with pulmonary histiocytosis X.Thorax. 1991 Nov;46(11):835-8. doi: 10.1136/thx.46.11.835.