LCH
MCID: LNG024
MIFTS: 75

Langerhans-Cell Histiocytosis (LCH) malady

Respiratory diseases, Bone diseases, Endocrine diseases, Blood diseases, Cancer diseases categories

Summaries for Langerhans-Cell Histiocytosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Langerhans cell histiocytosis (lch) is a disorder that primarily affects children, but is also found in adults of all ages. people with lch produce too many langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. in people with lch, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. the symptoms vary among affected individuals, and the cause of lch is unknown. in most cases, this condition is not life-threatening. some people do experience life-long problems associated with lch. last updated: 10/18/2013

MalaCards: Langerhans-Cell Histiocytosis, also known as langerhans cell histiocytosis, is related to histiocytosis and juvenile xanthogranuloma, and has symptoms including tapered fingers, premature eruption of teeth/natal teeth and wasted (excluding lipodystrophy)/poorly muscled build/cachexy. An important gene associated with Langerhans-Cell Histiocytosis is F13A1 (coagulation factor XIII, A1 polypeptide), and among its related pathways are Malaria and LDL Oxidation in Atherogenesis. The drug thalidomide and the compounds butyrate and estrogen have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are muscle and skeleton.

Disease Ontology:8 A disease of metabolism and histiocytic and dendritic cell cancer and histiocytosis and interstitial lung disease that results in the proliferation of langerhans cells.

Genetics Home Reference:21 Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell histiocytosis, excess immature Langerhans cells usually form tumors called granulomas. However, Langerhans cell histiocytosis is not generally considered to be a form of cancer.

Wikipedia:63 Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of Langerhans... more...

Description from OMIM:46 604856

Aliases & Classifications for Langerhans-Cell Histiocytosis

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
langerhans cell histiocytosis:
Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

langerhans-cell histiocytosis 8 10
langerhans cell histiocytosis 42 21 44 48 46
histiocytosis x 8 42 21 44 48
eosinophilic granuloma 42 44 48 60
langerhans cell granulomatosis 8 21 48
lch 42 21
chronic and localized langerhans cell histiocytosis 48
hand-schüller-christian syndrome 42
langerhan's cell histiocytosis 8
histiocytosis, langerhans-cell 60
hashimoto-pritzger disease 21
letterer-siwe disease 42


External Ids:

Disease Ontology8 DOID:2571
NCIt39 C3107, C6920
MeSH34 D006646
OMIM46 604856
MESH via Orphanet35 D006646, D004803
ICD10 via Orphanet26 C96.0, C96.5, C96.6
SNOMED-CT via Orphanet57 128809007, 190955000, 65399007 129000002, more
UMLS via Orphanet61 C0019621, C0014461

Related Diseases for Langerhans-Cell Histiocytosis

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17GeneCards, 18GeneDecks
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Diseases related to Langerhans-Cell Histiocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 310)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis32.3S100B, CD163, CD68, CD1A, CD207, FSCN1
2juvenile xanthogranuloma31.1FSCN1, F13A1, S100B
3leukemia31.0PML, CSF1, TNF, CTSD, FLT3LG, LIF
4acute leukemia30.9PML, CSF1, FLT3LG, RARA
5langerhans cell sarcoma30.8CD207
6letterer-siwe disease30.7CD1A, CD207
7sarcoma30.7S100B, S100A1, CSF1, F13A1, CD163, CD1A
8hodgkin's lymphoma30.7CCL22, CD68, CD40, FSCN1
9dermatitis30.6LIF, F13A1, CCL22
10myeloid leukemia30.6CSF1, LIF, RARA
11skin disease30.6IL10, CD40, F13A1, TNF
12pulmonary fibrosis30.4CCL22
13sarcoidosis30.4TNF
14amyloidosis30.4CTSD
15myeloma30.4RARA, CD40, LIF, CSF1
16adenocarcinoma30.4CTSD, F13A1, LIF, FSCN1, RARA, ACTC1
17inflammatory bowel disease30.4CCL22, TNF, F13A1, CD40, IL10
18idiopathic pulmonary fibrosis30.4CCL22, S100A1, ACTC1
19non-hodgkin lymphoma30.4PML, FLT3LG, CD40, FSCN1
20hypothyroidism30.4RARA
21aspergillosis30.2CSF1
22papilloma30.2ACTC1, RARA, FSCN1
23glioblastoma multiforme30.2RARA, CTSD, S100B
24acute monocytic leukemia30.2RARA, CD40, CSF1
25cholesteatoma30.2RARA, S100A1
26anaplastic large cell lymphoma30.2FSCN1
27stomach cancer30.2CTSD, LIF, FSCN1, RARA
28malaria30.2IL10, LIF, TNF
29fibrous histiocytoma30.2S100B, F13A1, CD163, FSCN1, ACTC1
30meningioma30.2S100B, S100A1, CTSD, CD68
31multiple myeloma30.2CD40
32severe combined immunodeficiency30.2CSF1, CD40
33obesity30.2RARA, LIF, CTSD, TNF
34monocytic leukemia30.2CSF1, TNF, LIF, CD40, RARA
35pneumonia30.2CCL22, TNF, FLT3LG, CD40, IL10
36asthma30.2CCL22, CSF1, TNF, LIF, CD1A, IL10
37thrombocytopenia30.2FLT3LG, CSF1
38synovitis30.2TNF, CD163, CD68
39squamous cell carcinoma30.2S100A1, CTSD, LIF, FSCN1, RARA, ACTC1
40thyroid cancer30.2S100A1, CTSD, RARA
41peritonitis30.0LIF, TNF
42reticulosarcoma30.0FSCN1, CD68, CTSD
43graves' disease29.9CD40
44hemangioma29.9F13A1, CD163, CD68, ACTC1
45non-langerhans-cell histiocytosis10.9
46diabetes insipidus10.8
47erdheim-chester disease10.7
48thyroiditis10.7
49pneumothorax10.6
50malignant histiocytosis10.5

Graphical network of the top 20 diseases related to Langerhans-Cell Histiocytosis:



Diseases related to langerhans-cell histiocytosis

Clinical Features for Langerhans-Cell Histiocytosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

604856

Symptoms:

48 (show all 28)
  • tapered fingers
  • premature eruption of teeth/natal teeth
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • fever/chilling
  • lymphadenopathy/polyadenopathies
  • bone pain
  • anomalies of tongue, gingiva and oral mucosa
  • mutiple fractures/bone fragility
  • emphysema
  • hydrarthrosis/articular/joint effusion
  • asthenia/fatigue/weakness
  • anomalies of teeth and dentition
  • chronic/relapsing otitis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • thoracic/chest pain
  • cough
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • bone tumefaction/swelling
  • proptosis/exophthalmos
  • lymphoma
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • facial pain/cephalalgia/migraine
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • osteolysis/osteoclasia/bone destruction/erosions
  • pulmonary hypertension
  • lung/pulmonary infiltrates
  • hyperhidrosis/increased sweating

Drugs & Therapeutics for Langerhans-Cell Histiocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Langerhans-Cell Histiocytosis

Search CenterWatch for Langerhans-Cell Histiocytosis

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Langerhans-Cell Histiocytosis

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Anatomical Context for Langerhans-Cell Histiocytosis

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32MalaCards
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MalaCards organs/tissues related to Langerhans-Cell Histiocytosis:

32
Bone, Lung, Skin, Lymph node, Bone marrow, Liver, Spleen, Thyroid, Pituitary, Myeloid, Tongue, T cells, Testes, Colon, Breast, Thymus, Spinal cord, B cells, Heart, Monocytes

Animal Models for Langerhans-Cell Histiocytosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Langerhans-Cell Histiocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.2CSF1, RARA, ACTC1
2MP:000539010.2RARA, CD40, CD68, LIF, CSF1
3MP:00053979.9RARA, PML, CSF1, TNF, CTSD, FLT3LG
4MP:00053849.9PML, CSF1, TNF, CTSD, FLT3LG, LIF
5MP:00053879.8FLT3LG, CTSD, TNF, CSF1, PML, LIF
6MP:00053859.8S100A1, CSF1, TNF, F13A1, LIF, IL10

Publications for Langerhans-Cell Histiocytosis

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50PubMed
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Articles related to Langerhans-Cell Histiocytosis:

(show top 50)    (show all 646)
idTitleAuthorsYear
1
Narrowband ultraviolet B light in langerhans cell histiocytosis: a case report. (24224945)
2014
2
Skeletal involvement in Langerhans cell histiocytosis. (23907805)
2013
3
Pulmonary adenocarcinoma in a young patient of pulmonary langerhans cell histiocytosis (PLCH). (23857403)
2013
4
Rapidly fatal multiorgan langerhans cell histiocytosis in a neonate. (23278554)
2013
5
Clinical Outcomes of Radiation Therapy in the Management of Langerhans Cell Histiocytosis. (23466581)
2013
6
Cutaneous Langerhans cell histiocytosis: study of Asian children shows good overall prognosis. (23909818)
2013
7
Clofarabine salvage therapy for refractory high-risk langerhans cell histiocytosis. (23255383)
2013
8
Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group. (23243004)
2013
9
Surgical treatment based on pedicle screw instrumentation for thoracic orA lumbar spinal Langerhans cell histiocytosis complicated with neurologic deficit in children. (24035731)
2013
10
Cladribine therapy in adults with advanced Langerhans cell histiocytosis. (23101752)
2013
11
Pulmonary Langerhans cell histiocytosis: profiling of multifocal tumors using next-generation sequencing identifies concordant occurrence of BRAF V600E mutations. (23287985)
2013
12
Suprasellar non-Langerhans cell histiocytosis (Erdheim-Chester disease)--a case report. (23465991)
2013
13
Neurodegeneration in the course of Langerhans cell histiocytosis. (21744108)
2012
14
Immunohistochemical and molecular cytogenetic evaluation of potential targets for tyrosine kinase inhibitors in Langerhans cell histiocytosis. (22748304)
2012
15
Topical nitrogen mustard therapy in patients with Langerhans cell histiocytosis. (21967132)
2012
16
Recurrent adult-onset hypophyseal Langerhans cell histiocytosis after radiotherapy: a case report. (23043797)
2012
17
Solitary Langerhans cell histiocytosis arising from sternum: a case report. (22244435)
2012
18
Langerhans cell histiocytosis. (22417995)
2012
19
Tyrosine phosphatase SHP-1 is expressed higher in multisystem than in single-system Langerhans cell histiocytosis by immunohistochemistry. (21604205)
2011
20
Total pleurectomy as the surgical treatment for recurrent secondary spontaneous pneumothorax in a child with severe pulmonary Langerhans cells histiocytosis. (22674944)
2011
21
Successful bilateral pallidal stimulation in a patient with isolated lower limb dystonia coexistent with Langerhans cell histiocytosis and coeliac disease. (22127949)
2011
22
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion. (21428712)
2011
23
Oral mucosal involvement in Langerhans' cell histiocytosis: long-term follow-up of a rare case. (22126355)
2011
24
Adult Langerhans cell histiocytosis and sclerosing cholangitis: a case report and review of the literature. (21063491)
2010
25
Sonographic diagnosis of unifocal Langerhans cell histiocytosis of the skull. (20872938)
2010
26
Langerhans cell histiocytosis presenting as hypopigmented papules. (20537086)
2010
27
Adult langerhans cell histiocytosis of bones : a rare cancer network study. (21138223)
2010
28
Langerhans cell histiocytosis. (20229474)
2010
29
Bone marrow findings at diagnosis in patients with multisystem langerhans cell histiocytosis. (19863448)
2010
30
Intradural dirofilariasis mimicking a Langerhans cell histiocytosis tumor. (19489058)
2009
31
Adult Langerhans cell histiocytosis: a rare cause of colon polyp. (19544280)
2009
32
Pure vulvar Langerhans cell histiocytosis: a case report and literature review. (20099508)
2009
33
Histiocyte-rich pleomorphic mastocytoma: an uncommon variant mimicking juvenile xanthogranuloma and Langerhans cell histiocytosis. (19602070)
2009
34
Non-Langerhans cell histiocytosis in a child with Kawasaki disease. (21686403)
2009
35
Diabetes insipidus in Langerhans cell histiocytosis: When is treatment indicated? (19142995)
2009
36
Nail changes in Langerhans cell histiocytosis. (19717866)
2009
37
Lymphomatoid papulosis with CD1a+ dendritic cell hyperplasia, mimicking Langerhans cell histiocytosis. (17576340)
2007
38
Langerhans cell histiocytosis manifesting as recurrent simultaneous bilateral spontaneous pneumothorax in early infancy. (18045318)
2007
39
Immunohistochemical detection of the apoptosis-related proteins FADD, FLICE, and FLIP in Langerhans cell histiocytosis. (15956881)
2005
40
Mondini dysplasia and recurrent bacterial meningitis in a girl with relapsing Langerhans cell histiocytosis. (15170897)
2004
41
Langerhans cell histiocytosis: an evaluation of histopathological parameters, demonstration of proliferation by Ki-67 and mitotic bodies. (12716386)
2003
42
The role of radiotherapy in the management of diabetes insipidus caused by Langerhans cell histiocytosis. (17918791)
2002
43
Differentiation of Langerhans cells in Langerhans cell histiocytosis. (11222366)
2001
44
Langerhans cell histiocytosis in a child while in remission for acute lymphocytic leukemia. (11712070)
2001
45
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
46
Differential In situ cytokine profiles of Langerhans-like cells and T cells in Langerhans cell histiocytosis: abundant expression of cytokines relevant to disease and treatment. (10590064)
1999
47
Monokine expression in Langerhans' cell histiocytosis and sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) (8691347)
1996
48
Langerhans cell histiocytosis, diabetes insipidus, hyperprolactinemia and empty sella: a four-fold association. Report of two cases. (8851691)
1996
49
Central nervous system disease associated with Langerhans' cell histiocytosis. (8498649)
1993
50
Surface phenotype of Langerhans cells and lymphocytes in granulomatous lesions from patients with pulmonary histiocytosis X. (8503566)
1993

Genetic Variations for Langerhans-Cell Histiocytosis

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Expression for genes affiliated with Langerhans-Cell Histiocytosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Langerhans-Cell Histiocytosis

Search GEO for disease gene expression data for Langerhans-Cell Histiocytosis.

Pathways for genes affiliated with Langerhans-Cell Histiocytosis

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29KEGG, 51QIAGEN
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Compounds for genes affiliated with Langerhans-Cell Histiocytosis

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Langerhans-Cell Histiocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1butyrate4410.8CD40, CSF1
2estrogen4410.8F13A1
3cyclophosphamide44 49 1112.7FLT3LG, CD40
4gm-csf44 2811.7LIF, IL10, TNF
5s 1004410.7S100B, F13A1, ACTC1
6ivig4410.7CD40, CSF1
7reticulin4410.7ACTC1
8glycogen44 2411.7LIF, CSF1, ACTC1
9rantes4410.7CD40, LIF, CSF1, TNF
10dexamethasone44 49 28 1113.7S100B, LIF, CD163, RARA
11b 7234410.7ACTC1, S100A1, S100B, F13A1
12polyinosinic-polycytidylic acid4410.7CSF1, TNF, CD40, IL10
13il 104410.7CSF1, TNF, LIF, CD40, IL10
14blys4410.7TNF, IL10, CD40
15biotin44 11 2412.6S100A1, CSF1, CD40, IL10, ACTC1
16paclitaxel44 49 1112.6CSF1, RARA, LIF, CTSD, S100B
17prostaglandin4410.6CSF1, CD40, CCL22, TNF
18mannose4410.6CD207, CD40, CTSD, CSF1, CD163
19tgf beta14410.6TNF, LIF, RARA, IL10, CSF1
20hematoxylin4410.6S100B, ACTC1, F13A1, S100A1
21mucicarmine4410.6ACTC1, S100A1, S100B
22imatinib44 49 1112.6S100B, CSF1, ACTC1, RARA, IL10
23mdms4410.6S100B, CSF1, IL10
24ionomycin4410.6S100B, CSF1, TNF, IL10, CD40
25calcitriol44 59 11 2413.6IL10, LIF, CTSD, TNF, CSF1, RARA
26creatinine4410.6ACTC1, CTSD, CSF1
27neopterin4410.6CD40, TNF, IL10, CSF1
28rituximab44 49 1112.6CD40, TNF, CSF1, IL10
2912-o-tetradecanoylphorbol 13-acetate4410.6CSF1, CTSD, LIF, CD40, FSCN1, RARA
30actinomycin d4410.5LIF, PML, CSF1, TNF, CD40, RARA
31cyclosporin a44 28 5912.5CD40, ACTC1, CCL22, S100B, TNF, CTSD
32p0034410.5S100B, CSF1, CTSD
33alpha-retinoic acid4410.5PML, RARA
34progesterone44 59 28 11 2414.5S100B, S100A1, CSF1, CTSD, F13A1, LIF
35etoposide44 49 59 1113.5PML, CTSD, S100B, RARA, CSF1
36nitric oxide44 11 2412.5IL10, CD40, RARA, LIF, CTSD, TNF
37thymidine44 2411.4CSF1, IL10, RARA, LIF, FLT3LG, S100B
38sb 20358044 5911.4CCL22, TNF, IL10, LIF, CD40
39cysteine4410.4CD40, RARA, S100A1, CSF1, PML, S100B
40vegf4410.4LIF, F13A1, FLT3LG, CTSD, CD40, IL10
41hydrocortisone44 2 59 1113.3LIF
42retinoic acid44 2411.3ACTC1, FSCN1, CSF1, TNF, CTSD, LIF
43fibrinogen4410.3CD40, F13A1, CCL22, LIF, TNF
44oxygen44 2411.3TNF, CD40, S100B, CTSD
45lipid4410.3CD163, S100B, RARA, CD40, CD1A, CD68
46prednisolone44 28 1112.3IL10, CD40, TNF, CSF1
47paraffin4410.2S100B, ACTC1, S100A1, CSF1, CTSD, F13A1
48calcium44 49 11 2413.2F13A1, S100A1, ACTC1, RARA, FSCN1, CD101
49tyrosine4410.2S100A1, CSF1, ACTC1, LIF, FSCN1, S100B
50histamine44 28 2411.9IL10, CSF1, CCL22, TNF, CD40

GO Terms for genes affiliated with Langerhans-Cell Histiocytosis

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16Gene Ontology
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Cellular components related to Langerhans-Cell Histiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557610.1S100B, TNF, CTSD, F13A1, CD163, CD40
2extracellular spaceGO:0056159.7IL10, CCL22, S100B, CSF1, TNF, CTSD

Biological processes related to Langerhans-Cell Histiocytosis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1receptor biosynthetic processGO:03280010.6TNF, IL10
2negative regulation of cytokine secretion involved in immune responseGO:00274010.6IL10, TNF
3regulation of immunoglobulin secretionGO:05102310.6CD40, TNF
4positive regulation of tyrosine phosphorylation of Stat1 proteinGO:04251110.5CD40, LIF
5inflammatory responseGO:00695410.5IL10, CD40, TNF, CSF1, CCL22
6response to glucocorticoid stimulusGO:05138410.4IL10, TNF, S100B
7positive regulation of macrophage differentiationGO:04565110.4CSF1, LIF
8branching involved in mammary gland duct morphogenesisGO:06044410.4CSF1, PML
9positive regulation of cell proliferationGO:00828410.4S100B, CSF1, FLT3LG, LIF, RARA
10B cell proliferationGO:04210010.3IL10, CD40
11retinoic acid receptor signaling pathwayGO:04838410.1RARA, PML

Molecular functions related to Langerhans-Cell Histiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:04280310.2FLT3LG, CSF1, S100A1, S100B, PML
2cytokine activityGO:00512510.1IL10, LIF, FLT3LG, TNF, CSF1
3S100 protein bindingGO:04454810.1S100B, S100A1

Products for genes affiliated with Langerhans-Cell Histiocytosis

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Sources for Langerhans-Cell Histiocytosis

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3CDC
13ExPASy
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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