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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42NIH Rare Diseases, 8Disease Ontology, 10DISEASES, 21Genetics Home Reference, 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
histiocytosis, langerhans-cell 60
langerhan's cell histiocytosis 8
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 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:000536910.2RARA, ACTC1, CSF1
2MP:000539010.2LIF, CSF1, CD40, RARA, CD68
3MP:00053979.9PML, RARA, IL10, CD207, CD101, CD40
4MP:00053849.9PML, ACTC1, RARA, FSCN1, IL10, CTSD
5MP:00053879.8IL10, CD207, CD101, CD40, CD68, LIF
6MP:00053859.8CSF1, RARA, IL10, LIF, F13A1, TNF

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
Merkel cell polyomavirus DNA sequences in peripheral blood and tissues from patients with Langerhans cell histiocytosis. (24321520)
2014
2
Soft tissue Langerhans cell histiocytosis with secondary bone involvement in extremities: evolution of lesions in two patients. (23609170)
2013
3
Hypothetical pathogenesis of eosinophilic infiltration in Langerhans cell histiocytosis of the jaw. (23773614)
2013
4
Diabetes Insipidus and Sclerosing Cholangitis in a child may be a clue to the diagnosis of Langerhans' Cell Histiocytosis: A Case Report. (24421752)
2013
5
Association between Pituitary Langerhans Cell Histiocytosis and Papillary Thyroid Carcinoma. (24367234)
2013
6
Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign langerhans cell histiocytosis. (22996177)
2013
7
Isolated cutaneous Langerhans cell histiocytosis in a premature baby: what is the optimal approach? (23015353)
2013
8
Central nervous system juvenile xanthogranuloma after langerhans cell histiocytosis. (23109301)
2013
9
Monosystem multifocal Langerhans cell histiocytosis (multifocal eosinophilic granulomas of the bone) in a 36-year old patient: case report, therapeutic doubts and review of literature. (23940999)
2013
10
Langerhans cell histiocytosis of the orbit: five clinicopathologic cases and review of the literature. (23246282)
2013
11
Solitary congenital self-healing Langerhans cell histiocytosis: a benign variant of Langerhans cell histiocytosis? (23374945)
2013
12
Langerhans cell histiocytosis: two clinical presentations in the same patient. (22301045)
2012
13
Langerhans cell histiocytosis first presenting in the skin in adults: frequent association with a second haematological malignancy. (22835048)
2012
14
Notch is active in Langerhans cell histiocytosis and confers pathognomonic features on dendritic cells. (23074278)
2012
15
Clonal relationship between langerhans cell histiocytosis and myeloid sarcoma. (22382895)
2012
16
Langerhans Cell Histiocytosis of Maxillary sinus. (23770962)
2012
17
Langerhans cell histiocytosis presenting as a multi-system disorder in an infant. (22607290)
2012
18
Cladribine is effective against cystic pulmonary Langerhans cell histiocytosis. (23118088)
2012
19
Cutaneous Langerhans cell histiocytosis. (22318116)
2012
20
Unifocal langerhans cell histiocytosis simulating a limbal papilloma. (23264867)
2012
21
Analysis of 43 cases of Langerhans cell histiocytosis (LCH)-induced central diabetes insipidus registered in the JLSG-96 and JLSG-02 studies in Japan. (22139588)
2011
22
Langerhans' cell histiocytosis (LCH) in adolescence presented with central diabetes insipidus: a case report. (21717893)
2011
23
Langerhans cell histiocytosis: an uncommon presentation, successfully treated by thalidomide. (21860158)
2011
24
Langerhans' cell histiocytosis involving posterior elements of the dorsal spine: An unusual cause of extradural spinal mass in an adult. (23125497)
2011
25
Expert's comment concerning Grand Rounds case entitled "Langerhans cell histiocytosis of the atlas in an adult" (by Wo Quan Zhong, Liang Jiang, Qing Jun Ma, Zhong Jun Liu, Xiao Guang Liu, Feng Wei, Hui Shu Yuan, Geng Ting Dang). (19851792)
2010
26
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. (20337948)
2010
27
Langerhans cell histiocytosis of the petrous bone with sudden sensorineural hearing loss. Case report. (20805658)
2010
28
Langerhans cell histiocytosis: bilateral temporal bone involvement in an adult with diabetes insipidus. (20420085)
2010
29
Photoclinic. Langerhans' cell histiocytosis. (20187674)
2010
30
Langerhans cell histiocytosis in a child with non-Hodgkin lymphoma. (20628318)
2010
31
Image of the month. Langerhans cell histiocytosis of the stomach mimicking early gastric cancer. (20117242)
2010
32
Acquired bilateral agminated Spitz nevi in a child with Langerhans cell histiocytosis. (20609146)
2010
33
A patient with lichen sclerosus, Langerhans cell histiocytosis, and invasive squamous cell carcinoma of the vulva. (20541173)
2010
34
Recurrent BRAF mutations in Langerhans cell histiocytosis. (20519626)
2010
35
Cranial unifocal Langerhans cell histiocytosis in children. (19302861)
2009
36
Cerebral non-Langerhans cell histiocytosis in a 17-year-old patient with a headache: case report. (19363626)
2009
37
Immunocytochemical investigation of Langerin (CD207) is a valuable adjunct in the cytological diagnosis of Langerhans cell histiocytosis of the thyroid. (19195798)
2009
38
Concurrent Langerhans cell histiocytosis and nephroblastoma. (19148948)
2009
39
Imaging findings in Langerhans cell histiocytosis involving lung and liver. (19466388)
2009
40
Bronchogenic carcinoma developing during a long-term course of pulmonary Langerhans' cell histiocytosis. (19252362)
2009
41
Langerhans cell histiocytosis presenting with hypopigmented macules. (19172009)
2008
42
An unusual case of Erdheim-Chester disease with features of Langerhans cell histiocytosis. (17492445)
2007
43
Radiculopathy as a manifestation of Langerhans' cell histiocytosis. (17344085)
2007
44
Crusted Norwegian scabies in an adult with Langerhans cell histiocytosis: mishaps leading to systemic chemotherapy. (17515513)
2007
45
Langerhans cell hyperplasia in scabies: a mimic of Langerhans cell histiocytosis. (17696920)
2007
46
Anterior uveitis and iris nodules that are associated with Langerhans cell histiocytosis. (16376670)
2005
47
Fibrosing mediastinitis with superior vena cava obstruction as the initial presentation of Langerhans' cell histiocytosis in a young child. (12712269)
2003
48
CD79a(+) T-cell lymphoblastic lymphoma with coexisting Langerhans cell histiocytosis. (11419987)
2001
49
Angiotensin-converting enzyme, transforming growth factor beta(1), and interleukin 11 in the osteolytic lesions of Langerhans cell histiocytosis. (10975922)
2000
50
The presence of cytokines in Langerhans' cell histiocytosis. (9014861)
1996

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:00557610.1CCL22, S100B, TNF, CTSD, F13A1, CD163
2extracellular spaceGO:0056159.7CCL22, S100B, CSF1, TNF, CTSD, FLT3LG

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

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

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

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

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
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61UMLS via Orphanet