Details of Disease

General Information of Disease (ID: DIS1C04U)

Disease Name Langerhans cell histiocytosis specific to childhood
Synonyms Langerhans cell histiocytosis; childhood Langerhans cell histiocytosis; Langerhans cell granulomatosis specific to childhood; histiocytosis X specific to childhood
Definition Langerhans cell histiocytosis that occurs during childhood.
Disease Hierarchy
DISDQSW3: Langerhans cell histiocytosis
DIS1C04U: Langerhans cell histiocytosis specific to childhood
Disease Identifiers
MONDO ID
MONDO_0017025
UMLS CUI
C3899655
MedGen ID
859249

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ARAF TT5TURO moderate Genetic Variation [1]
GNA11 TTSRXJW moderate Genetic Variation [2]
GNAQ TTL1SRG moderate Genetic Variation [2]
MAP2K1 TTIDAPM Strong Genetic Variation [3]
CD1A TTBGTFN Definitive Biomarker [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KIR2DL4 OTXN18OA moderate Altered Expression [5]
PLEKHA6 OTALCXKW moderate Biomarker [6]
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References

1 Somatic activating ARAF mutations in Langerhans cell histiocytosis.Blood. 2014 May 15;123(20):3152-5. doi: 10.1182/blood-2013-06-511139. Epub 2014 Mar 20.
2 WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours.Neuropathol Appl Neurobiol. 2018 Feb;44(2):163-171. doi: 10.1111/nan.12397.
3 Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis. Pediatr Blood Cancer. 2018 Sep;65(9):e27237. doi: 10.1002/pbc.27237. Epub 2018 May 16.
4 Langerhans cell histiocytosis in children - a disease with many faces. Recent advances in pathogenesis, diagnostic examinations and treatment.Postepy Dermatol Alergol. 2018 Feb;35(1):6-17. doi: 10.5114/pdia.2017.67095. Epub 2018 Feb 20.
5 Killer cell immunoglobulin-like receptor 2DL4 is expressed in and suppresses the cell growth of Langerhans cell histiocytosis.Oncotarget. 2017 Jun 6;8(23):36964-36972. doi: 10.18632/oncotarget.16936.
6 A novel fusion gene PLEKHA6-NTRK3 in langerhans cell histiocytosis.Int J Cancer. 2019 Jan 1;144(1):117-124. doi: 10.1002/ijc.31636. Epub 2018 Oct 26.