LCH
MCID: LNG108
MIFTS: 58

Langerhans Cell Histiocytosis (LCH)

Categories: Blood diseases, Bone diseases, Immune diseases, Rare diseases

Aliases & Classifications for Langerhans Cell Histiocytosis

MalaCards integrated aliases for Langerhans Cell Histiocytosis:

Name: Langerhans Cell Histiocytosis 56 74 52 25 58 36 29 54 15 17
Histiocytosis X 12 74 52 25 58 54
Langerhans Cell Granulomatosis 12 25 58
Lch 56 52 25
Histiocytosis, Langerhans-Cell 43 71
Langerhans-Cell Histiocytosis 12 15
Hashimoto-Pritzger Disease 25 71
Letterer-Siwe Disease 12 71
Letterer-Siwe Disease Involving Lymph Nodes of Inguinal Region and Lower Limb 12
Letterer-Siwe Disease of Lymph Nodes of Inguinal Region Amd/or Lower Limb 12
Letterer-Siwe Disease of Lymph Nodes of Inguinal Region and/or Lower Limb 12
Letterer-Siwe Disease of Lymph Nodes of Inguinal Region and Lower Limb 12
Letterer-Siwe Disease Involving Lymph Nodes of Axilla and Upper Limb 12
Letterer-Siwe Disease Involving Lymph Nodes of Head, Face, and Neck 12
Letterer-Siwe Disease Involving Lymph Nodes of Head, Face and Neck 12
Letterer-Siwe Disease of Lymph Nodes of Axilla and/or Upper Limb 12
Letterer-Siwe Disease of Lymph Nodes of Head, Face and/or Neck 12
Letterer-Siwe Disease Involving Lymph Nodes of Multiple Sites 12
Letterer-Siwe Disease of Lymph Nodes of Axilla and Upper Limb 12
Letterer-Siwe Disease Involving Intra-Abdominal Lymph Nodes 12
Letterer-Siwe Disease of Lymph Nodes of Head, Face and Neck 12
Letterer-Siwe Disease Involving Intrathoracic Lymph Nodes 12
Letterer-Siwe Disease Involving Intrapelvic Lymph Nodes 12
Letterer-Siwe Disease of Lymph Nodes of Multiple Sites 12
Letterer-Siwe Disease of Intra-Abdominal Lymph Nodes 12
Letterer-Siwe Disease of Intrathoracic Lymph Nodes 12
Letterer-Siwe Disease of Intrapelvic Lymph Nodes 12
Letterer-Siwe Disease Involving Spleen 12
Letterer-Siwe Disease of Spleen 12
Langerhan's Cell Histiocytosis 12
Familial Letterer-Siwe Disease 43

Characteristics:

Orphanet epidemiological data:

58
langerhans cell histiocytosis
Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2571
OMIM 56 604856
KEGG 36 H01512
ICD9CM 34 202.5
NCIt 49 C3107 C3160
ICD10 32 C96.0 C96.6
MESH via Orphanet 44 D006646
ICD10 via Orphanet 33 C96.0 C96.5 C96.6
UMLS via Orphanet 72 C0019621
Orphanet 58 ORPHA389
MedGen 41 C0019621
UMLS 71 C0019621 C0023381 C3661439

Summaries for Langerhans Cell Histiocytosis

Genetics Home Reference : 25 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. Many researchers now consider Langerhans cell histiocytosis to be a form of cancer, but this classification remains controversial. In approximately 80 percent of affected individuals, one or more granulomas develop in the bones, causing pain and swelling. The granulomas, which usually occur in the skull or the long bones of the arms or legs, may cause the bone to fracture. Granulomas also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild to severe. The pituitary gland may also be affected; this gland is located at the base of the brain and produces hormones that control many important body functions. Without hormone supplementation, affected individuals may experience delayed or absent puberty or an inability to have children (infertility). In addition, pituitary gland damage may result in the production of excessive amounts of urine (diabetes insipidus) and dysfunction of another gland called the thyroid. Thyroid dysfunction can affect the rate of chemical reactions in the body (metabolism), body temperature, skin and hair texture, and behavior. In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs, liver, or blood-forming (hematopoietic) system; damage to these organs and tissues may be life-threatening. Lung involvement, which appears as swelling of the small airways (bronchioles) and blood vessels of the lungs, results in stiffening of the lung tissue, breathing problems, and increased risk of infection. Hematopoietic involvement, which occurs when the Langerhans cells crowd out blood-forming cells in the bone marrow, leads to a general reduction in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). Other signs and symptoms that may occur in Langerhans cell histiocytosis, depending on which organs and tissues have Langerhans cell deposits, include swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and seizures. About 1 in 50 affected individuals experience deterioration of neurological function (neurodegeneration). Langerhans cell histiocytosis is often diagnosed in childhood, usually between ages 2 and 3, but can appear at any age. Most individuals with adult-onset Langerhans cell histiocytosis are current or past smokers; in about two-thirds of adult-onset cases the disorder affects only the lungs. The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary widely among affected individuals. Certain presentations or forms of the disorder were formerly considered to be separate diseases. Older names that were sometimes used for forms of Langerhans cell histiocytosis include eosinophilic granuloma, Hand-Schüller-Christian disease, and Letterer-Siwe disease. In many people with Langerhans cell histiocytosis, the disorder eventually goes away with appropriate treatment. It may even disappear on its own, especially if the disease occurs only in the skin. However, some complications of the condition, such as diabetes insipidus or other effects of tissue and organ damage, may be permanent.

MalaCards based summary : Langerhans Cell Histiocytosis, also known as histiocytosis x, is related to non-langerhans-cell histiocytosis and erdheim-chester disease, and has symptoms including fever An important gene associated with Langerhans Cell Histiocytosis is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are MAPK signaling pathway and ERK Signaling. The drugs Levoleucovorin and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include lymph node, bone and lung, and related phenotypes are Reduced mammosphere formation and hematopoietic system

Disease Ontology : 12 A histiocytosis that is characterized by clonal proliferation of Langerhans cells.

NIH Rare Diseases : 52 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 of LCH vary from person to person, depending on the areas of the body affected. LCH may be found in many areas of the body, including but not limited to the skin and nails, mouth, bones, lymph nodes , pituitary gland, and thyroid gland. When it is found in multiple areas of the body, it is known as multisystem disease. The cause of this disease is unknown, although most data suggest that it is characterized by a growth of immature Langerhans cells that appear to have mutations of the BRAF gene in about half the cases. LCH is not caused by a known infection, is not contagious, nor is it believed to be inherited . There remain differing opinions among experts as to whether it is definitively a cancer or not. Treatment for LCH varies and may include surgery, chemotherapy , radiation therapy , and use of certain medications. LHC includes four variants, with different degrees of severity: Hashimoto-Pritzker disease , a congenital self-healing form Letterer-Siwe disease, a severe, acute and disseminate form Hand-Schuller-Christian disease, an intermediate chronic form with multiple lesions characterized by diabetes insipidus, bulging of the eye and localized lesions in the bone Eosinophilic granuloma, a less severe form, characterized by solitary or few, and chronic lesions of bone or other organs . Because all the variants have many common symptoms it is thought that they may be manifestations of LCH and not separate syndromes .

OMIM : 56 Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. Clinical manifestations range from a spontaneously healing isolated osteolytic lesion to a lymphoma-like syndrome with fatal multiorgan failure, in the absence of any cellular evidence of malignancy. Although the disease can present at any age, the peak age at diagnosis is between 1 and 3 years (summary by Arico et al., 1999). Egeler and D'Angio (1995) presented a classification of histiocytosis syndromes in children: class I, Langerhans cell histiocytosis (LCH); class II, histiocytosis of mononuclear macrophages other than Langerhans cells, including familial hemophagocytic lymphohistiocytosis (267700); and class III, malignant histiocytic disorders, including histiocytic lymphoma. (604856)

KEGG : 36 Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the skin and mucosa. Its clinical presentation is variable and ranges from isolated skin or bone disease to a life-threatening multisystem condition. Historically, it has been hypothesized that the disease originated from epidermal Langerhans cells. However, new evidence supports a model in which LCH occurs as a consequence of a misguided differentiation programme of myeloid dendritic cell precursors. In LCH, there is a very high frequency of activating mutations in MAPK signaling pathway genes, most notably BRAF-V600E, as well as MAP2K1. Genetic, molecular and functional data implicate activation of the MAPK (ERK) signalling pathway at critical stages in myeloid differentiation as an essential and universal driver of LCH pathology.

Wikipedia : 74 Langerhans cell histiocytosis (LCH) is a rare cancer involving clonal proliferation of Langerhans cells,... more...

Related Diseases for Langerhans Cell Histiocytosis

Diseases related to Langerhans Cell Histiocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 773)
# Related Disease Score Top Affiliating Genes
1 non-langerhans-cell histiocytosis 33.3 U2AF1 F13A1 CD68 CD207 CD1C CD1A
2 erdheim-chester disease 32.5 NRAS CD68 CD1C CD1A BRAF
3 langerhans cell sarcoma 32.1 CD68 CD207 CD1C CD1A CD163
4 reticulohistiocytic granuloma 32.1 CD68 CD207 CD1C CD1A CD163
5 juvenile xanthogranuloma 31.8 S100B FSCN1 F13A1 CD1C CD1A BRAF
6 dendritic cell tumor 31.0 S100B PTPRC FSCN1 CD68 CD207 CD1A
7 seborrheic dermatitis 30.9 CD207 CD1C CD1A CCR6
8 exophthalmos 30.9 CD68 CD207 CD1C CD1A
9 lichen nitidus 30.5 CD1C CD1A
10 histiocytic sarcoma 30.4 CD68 CD163 BRAF
11 fibroblastic rheumatism 30.3 F13A1 CD163
12 fibrosarcoma of bone 30.3 CD68 CD1C CD1A
13 spongiotic dermatitis 30.3 CD1C CD1A
14 hairy cell leukemia 30.2 U2AF1 MAP2K1 ITGAX BRAF
15 dermatophytosis 30.1 IL17A CSF1 CCR6
16 rosai-dorfman disease 30.1 S100B MAP2K1 FSCN1 CD163 BRAF
17 villonodular synovitis 30.1 CSF1 CD68
18 chediak-higashi syndrome 30.1 ITGAX CD207 CCR6
19 orbital cancer 30.1 CD1C CD1A
20 interdigitating dendritic cell sarcoma 30.1 CD68 CD1C CD1A
21 lymphoma 30.0 PTPRC NRAS MAP2K1 FSCN1 CCR6 BRAF
22 central nervous system vasculitis 30.0 IL17A CD68 CCR6
23 lymphoma, hodgkin, classic 29.9 PTPRC FSCN1 CD68 CCR6
24 generalized eruptive histiocytosis 29.9 S100B F13A1
25 leprosy 3 29.8 IL17A CD1C CD1A CCR6
26 chronic myelomonocytic leukemia 29.8 U2AF1 NRAS ITGAX CSF1
27 granuloma annulare 29.8 F13A1 CD68 CD1C CD1A
28 myeloid sarcoma 29.7 U2AF1 PTPRC CD68
29 pancytopenia 29.6 U2AF1 PTPRC CSF1 CD68
30 multicentric reticulohistiocytosis 29.6 F13A1 CSF1 CD68
31 necrobiosis lipoidica 29.6 CD68 CD1A CD163
32 spondyloarthropathy 1 29.6 IL17A CD163 CCR6
33 granulomatous dermatitis 29.6 CD68 CD1C CD163 BRAF
34 lymph node disease 29.5 PTPRC ITGAX IL17A CCR6
35 pigmented villonodular synovitis 29.4 PTPRC CSF1 CD68
36 benign giant cell tumor 29.4 PTPRC CSF1 CD68
37 adult xanthogranuloma 29.4 CD68 CD207 CD1C CD1A CD163
38 mycobacterium tuberculosis 1 29.3 PTPRC IL17A CD1C CD1A CCR6
39 fibrous histiocytoma 29.2 S100B F13A1 CD68 CD163
40 acute promyelocytic leukemia 29.2 U2AF1 PTPRC NRAS MAP2K1 ITGAX CSF1
41 sarcoma 29.1 S100B PTPRC NRAS MAP2K1 BRAF ARAF
42 myeloma, multiple 29.1 U2AF1 PTPRC NRAS IL17A CSF1 CCR6
43 lymphoma, non-hodgkin, familial 29.0 U2AF1 PTPRC NRAS ITGAX CCR6 BRAF
44 leukemia, acute myeloid 29.0 U2AF1 PTPRC NRAS MAP2K1 ITGAX CSF1
45 histiocytic and dendritic cell cancer 28.9 PTPRC CD68 CD207 CD1C CD1A CD163
46 malignant fibrous histiocytoma 28.9 S100B PTPRC F13A1 CD68
47 leukemia, chronic lymphocytic 28.9 U2AF1 PTPRC NRAS ITGAX CCR6 BRAF
48 histiocytosis 28.8 U2AF1 S100B PTPRC NRAS MAP2K1 ITGAX
49 skin disease 28.8 U2AF1 S100B IL17A F13A1 CD1C CD1A
50 hashimoto-pritzker syndrome 12.2

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



Diseases related to Langerhans Cell Histiocytosis

Symptoms & Phenotypes for Langerhans Cell Histiocytosis

Clinical features from OMIM:

604856

UMLS symptoms related to Langerhans Cell Histiocytosis:


fever

GenomeRNAi Phenotypes related to Langerhans Cell Histiocytosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 BRAF CCR6 CD1A CSF1 F13A1 IL17A

MGI Mouse Phenotypes related to Langerhans Cell Histiocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 ARAF BRAF CCR6 CD101 CD163 CD207
2 immune system MP:0005387 10 ARAF BRAF CCR6 CD101 CD163 CD207
3 endocrine/exocrine gland MP:0005379 9.97 ARAF BRAF CSF1 F13A1 IL17A LIF
4 integument MP:0010771 9.61 BRAF CSF1 FSCN1 IL17A LIF MAP2K1
5 respiratory system MP:0005388 9.28 BRAF CD163 CD207 CSF1 F13A1 FSCN1

Drugs & Therapeutics for Langerhans Cell Histiocytosis

Drugs for Langerhans Cell Histiocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
2
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
3
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
4
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
5
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
6
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
9 Micronutrients Phase 3
10 Trace Elements Phase 3
11 Vitamins Phase 3
12 Antidotes Phase 3
13 Nutrients Phase 3
14 Antiviral Agents Phase 2, Phase 3
15 Immunoglobulins Phase 2, Phase 3
16 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
17 Antibodies Phase 2, Phase 3
18 Immunoglobulins, Intravenous Phase 2, Phase 3
19 Analgesics, Non-Narcotic Phase 2, Phase 3
20 Rho(D) Immune Globulin Phase 2, Phase 3
21 Cyclooxygenase Inhibitors Phase 2, Phase 3
22 Analgesics Phase 2, Phase 3
23 gamma-Globulins Phase 2, Phase 3
24 Tocolytic Agents Phase 2, Phase 3
25 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
26 Immunologic Factors Phase 2, Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Alkylating Agents Phase 2, Phase 3
29 Thymoglobulin Phase 2, Phase 3
30
Thioguanine Approved Phase 2 154-42-7 2723601
31
Etanercept Approved, Investigational Phase 2 185243-69-0
32
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
33
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
34
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
35
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
36
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
37
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
38
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
39
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
40
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
41
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
42 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
43
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
44
Denosumab Approved Phase 2 615258-40-7
45
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
46
Mebendazole Approved, Vet_approved Phase 2 31431-39-7 4030
47
Piperazine Approved, Vet_approved Phase 2 110-85-0 4837
48
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 11431660 5330286
49
Olaparib Approved Phase 2 763113-22-0 23725625
50
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 71657455

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
2 H-9926-LCH III: Treatment Protocol of the Third International Study for Langerhans Cell Histiocytosis Completed NCT00488605 Phase 3 Prednisone, Vinblastin, 6-mercaptopuroine;Leucovorin, Methotrexate, Vinblastine, Prednisone
3 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3 Prednisone;Vinblastine;mercaptopurine;INDOMETHACIN;Methotrexate;Cytosine Arabinoside;2-chlorodeoxyadenosine
4 Randomization of Cytarabine Monotherapy Versus Standard-of-Care Vinblastine/Prednisone for Frontline Treatment of Langerhans Cell Histiocytosis (TXCH LCH0115) Recruiting NCT02670707 Phase 3 Cytarabine;Vinblastine/prednisone
5 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
6 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
7 Transplantation Using Umbilical Cord And Placental Blood Unknown status NCT00008164 Phase 2
8 Efficacy and Tolerance of Combination Chemotherapy With Methotrexate and Cytosine Arabinoside in Newly Diagnosed Adult With Langerhans Cell Histiocytosis Completed NCT02389400 Phase 2 methotrexate
9 A Phase 2a, Open Label, Multicenter Study to Assess the Efficacy and Safety of the Oral AKT Inhibitor GSK2110183 in Subjects With Langerhans Cell Histiocytosis Completed NCT01395004 Phase 2 GSK2110183
10 Study of Sequential Administration of Oral 6-Thioguanine After Methotrexate in Patients With Langerhans Cell in Histiocytosis (LCH) Completed NCT00588536 Phase 2 Methotrexate;6-Thioguanine;Leucovorin Calcium
11 Treatment of Resistant Langerhans Cell Histiocytosis With Etanercept (ENBREL, IMMUNEX, SEATTLE) Completed NCT00048373 Phase 2 Etanercept
12 A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Completed NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
13 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
14 Impact of Intervention With Deferasirox on the Immune Function of Patients With Hematologic Diseases and Transfusion-Related Iron Overload Completed NCT01273766 Phase 2 deferasirox
15 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
16 Phase II Study of Clofarabine in Patients With Recurrent or Refractory Langerhans Cell Histiocytosis and LCH-related Disorders Recruiting NCT02425904 Phase 2 Clofarabine
17 Cytarabine Monotherapy for Adult Patients With Newly Diagnosed Langerhans Cell Histiocytosis: A Single Arm, Single Center, Prospective Phase 2 Study Recruiting NCT04121819 Phase 2 Cytarabine
18 Thalidomide, Cyclophosphamide and Dexamethasone for Adult Patients With Recurrent/Refractory Langerhans Cell Histiocytosis: A Single Arm, Single Center, Prospective Phase 2 Study Recruiting NCT04120519 Phase 2 thalidomide combined with dexamethasone and cyclophosphamide
19 Evaluation of Efficacy of Denosumab in Adult Patients With Langerhans Cell Histiocytosis (LCH): a Multiple-site, Single Arm, Open Label Clinical Trial Recruiting NCT03270020 Phase 2 Denosumab 70 MG/ML [Xgeva]
20 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Vemurafenib in Patients With Tumors Harboring Braf V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
21 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Palbociclib in Patients With Tumors Harboring Activating Alterations in Cell Cycle Genes Recruiting NCT03526250 Phase 2 Palbociclib
22 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Olaparib in Patients With Tumors Harboring Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
23 The Prospective Non-randomized Phase II Clinical Trial of Vemurafenib in Combination With Cytarabine and 2-chlorodeoxyadenosine in Children With Langerhans-cell Hisitocytosis With BRAF V600E Mutation Recruiting NCT03585686 Phase 2 Vemurafenib;Cytarabine;2-chlorodeoxyadenosine
24 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Recruiting NCT04195555 Phase 2 Ivosidenib
25 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-101 (Larotrectinib) in Patients With Tumors Harboring Actionable NTRK Fusions Recruiting NCT03213704 Phase 2 Larotrectinib;Larotrectinib Sulfate
26 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tazemetostat in Patients With Tumors Harboring Alterations in EZH2 or Members of the SWI/SNF Complex Recruiting NCT03213665 Phase 2 Tazemetostat
27 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Ensartinib in Patients With Tumors Harboring ALK or ROS1 Genomic Alterations Recruiting NCT03213652 Phase 2 Ensartinib
28 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of JNJ-42756493 (Erdafitinib) in Patients With Tumors Harboring FGFR1/2/3/4 Alterations Recruiting NCT03210714 Phase 2 Erdafitinib
29 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of BVD-523FB (Ulixertinib) in Patients With Tumors Harboring Activating MAPK Pathway Mutations Recruiting NCT03698994 Phase 2 Ulixertinib
30 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
31 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
32 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
33 Cord Blood Ex-Vivo MSC Expansion Plus Fucosylation to Enhance Homing and Engraftment Recruiting NCT03096782 Phase 2 Busulfan;Clofarabine;Cyclophosphamide;Fludarabine;Melphalan;Mycophenolate Mofetil;Tacrolimus
34 Evaluation of Efficacy and Tolerance of Cladribine in Symptomatic Patients With Pulmonary Langerhans Cell Histiocytosis and Impairment of Lung Function Active, not recruiting NCT01473797 Phase 2 Cladribine
35 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
36 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
37 An Open-Label, Dose-Escalation, Phase I/II Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics and Clinical Activity of the MEK Inhibitor Trametinib in Children and Adolescents Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Children and Adolescents With Cancers Harboring V600 Mutations Active, not recruiting NCT02124772 Phase 1, Phase 2 Trametinib;Dabrafenib
38 Phase I-II Study of Vinblastine in Combination With Nilotinib in Children, Adolescents, and Young Adults With Refractory or Recurrent Low-Grade Glioma Active, not recruiting NCT01887522 Phase 2 Vinblastine + Nilotinib;Vinblastine
39 A Phase 2 Study to Assess the Safety and Efficacy of Cobimetinib in Refractory Langerhans Cell Histiocytosis, LCH-Associated Neurodegenerative Disease, and Other Histiocytic Disorders. Not yet recruiting NCT04079179 Phase 2 Cobimetinib
40 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Not yet recruiting NCT04320888 Phase 2 Selpercatinib
41 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Not yet recruiting NCT04284774 Phase 2 Tipifarnib
42 Reduced Intensity Hematopoietic Cell Transplantation for Patients With Resistant Langerhans Cell Histiocytosis Terminated NCT00618540 Phase 2 fludarabine phosphate;melphalan
43 Phase II Study of Clofarabine in Patients With Recurrent or Refractory Langerhans Cell Histiocytosis Withdrawn NCT01796405 Phase 2 Clofarabine
44 PHASE I-II STUDY OF VINBLASTINE IN COMBINATION WITH NILOTINIB IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS WITH REFRACTORY OR RECURRENT LOW-GRADE GLIOMA Unknown status NCT01884922 Phase 1 Nilotinib;Vinblastine
45 A Phase 1/Pharmacokinetic Study of Sunitinib in Patients With Cancer Who Also Have HIV and Are on HAART Therapy Completed NCT00890747 Phase 1 sunitinib malate
46 Cord Blood Fucosylation to Enhance Homing and Engraftment in Patients With Hematologic Malignancies Completed NCT01471067 Phase 1 Melphalan;Fludarabine;Mycophenolate mofetil;Tacrolimus;Rituximab;ATG;Busulfan;Clofarabine
47 Phase I/IIa, 2-Part, Multi-Center, Single-Arm, Open-Label Study to Determine the Safety, Tolerability and Pharmacokinetics of Oral Dabrafenib in Children and Adolescent Subjects With Advanced BRAF V600-Mutation Positive Solid Tumors Active, not recruiting NCT01677741 Phase 1 Dabrafenib
48 A Phase I Study of [111In-DTPA-D-Phe]-Octreotide in Patients With Refractory Malignancies Expressing Somatostatin Receptors Terminated NCT00002947 Phase 1
49 CARDIOVASCULAR RISK FACTORS IN ADULT PATIENTS WITH MULTISYSTEM LANGERHANS-CELL HISTIOCYTOSIS: EVIDENCE OF GLUCOSE METABOLISM ABNORMALITIES Unknown status NCT00483925
50 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Unknown status NCT03052101

Search NIH Clinical Center for Langerhans Cell Histiocytosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Thalidomide

Cochrane evidence based reviews: histiocytosis, langerhans-cell

Genetic Tests for Langerhans Cell Histiocytosis

Genetic tests related to Langerhans Cell Histiocytosis:

# Genetic test Affiliating Genes
1 Langerhans Cell Histiocytosis 29

Anatomical Context for Langerhans Cell Histiocytosis

MalaCards organs/tissues related to Langerhans Cell Histiocytosis:

40
Lymph Node, Bone, Lung, Skin, Thyroid, Pituitary, Liver

Publications for Langerhans Cell Histiocytosis

Articles related to Langerhans Cell Histiocytosis:

(show top 50) (show all 5609)
# Title Authors PMID Year
1
Interleukin-17A is not expressed by CD207(+) cells in Langerhans cell histiocytosis lesions. 61 56
19424201 2009
2
Langerhans cell histiocytosis reveals a new IL-17A-dependent pathway of dendritic cell fusion. 61 56
18157139 2008
3
Hypothalamo-pituitary abnormalities in adult patients with langerhans cell histiocytosis: clinical, endocrinological, and radiological features and response to treatment. 56 61
10770168 2000
4
Familial clustering of Langerhans cell histiocytosis. 56 61
10606898 1999
5
Langerhans cell histiocytosis. 61 56
7608790 1995
6
Differential immunophenotypic analysis of dendritic cell tumours. 54 61
20439325 2010
7
Immunocytochemical investigation of Langerin (CD207) is a valuable adjunct in the cytological diagnosis of Langerhans cell histiocytosis of the thyroid. 61 54
19195798 2009
8
Immunohistochemical expression of Langerin in Langerhans cell histiocytosis and non-Langerhans cell histiocytic disorders. 54 61
18277880 2008
9
In vivo transformation of mouse conventional CD8alpha+ dendritic cells leads to progressive multisystem histiocytosis. 61 54
18029555 2008
10
Langerhans' cell histiocytosis with multisystem involvement in an adult. 54 61
17953644 2007
11
Immunohistochemical analysis of langerin in langerhans cell histiocytosis and pulmonary inflammatory and infectious diseases. 61 54
17527085 2007
12
[A case of pulmonary langerhans cell histiocytosis presenting disappearance of coalescing air wall cysts after smoking cessation]. 61 54
16050471 2005
13
Tumor necrosis factor, interleukin 11, and leukemia inhibitory factor produced by Langerhans cells in Langerhans cell histiocytosis. 54 61
15543003 2004
14
Diagnostic relevance of Langerin detection in cells from bronchoalveolar lavage of patients with pulmonary Langerhans cell histiocytosis, sarcoidosis and idiopathic pulmonary fibrosis. 61 54
14722767 2004
15
Atypical generalized eruptive histiocytosis associated with acute monocytic leukemia. 54 61
14576638 2003
16
Langerhans cell histiocytosis immunohistochemical expression of fascin, a dendritic cell marker. 61 54
12219775 2002
17
Abundant expression of CD40 and CD40-ligand (CD154) in paediatric Langerhans cell histiocytosis lesions. 61 54
11044648 2000
18
DNA polymorphisms and mutations of the tumor necrosis factor-alpha (TNF-alpha) promoter in Langerhans cell histiocytosis (LCH). 54 61
9355965 1997
19
Molecular analysis of the t(15;17) translocation in de novo and secondary acute promyelocytic leukemia. 54 61
9209367 1997
20
Nonlipidized juvenile xanthogranuloma: a histologic and immunohistochemical study. 61 54
9144693 1997
21
Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. 54 61
8965684 1996
22
Modulation of fibroblast activity in histiocytosis X by platelet-derived growth factor. 54 61
7874940 1995
23
Immunohistochemical demonstration of the lysosome-associated glycoprotein CD68 (KP-1) in granular cell tumors and schwannomas. 61 54
7959661 1994
24
Cathepsin D and E co-expression in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and Langerhans' cell histiocytosis: further evidences of a phenotypic overlap between these histiocytic disorders. 61 54
8055153 1994
25
Immunohistochemical detection of granulocyte/macrophage colony-stimulating factor in Langerhans' cell histiocytosis. 54 61
7507881 1993
26
Histologic and immunohistochemical study comparing xanthoma disseminatum and histiocytosis X. 54 61
1519935 1992
27
Histiocytosis X. S-100 protein, peanut agglutinin, and transmission electron microscopy study. 61 54
2239828 1990
28
Histiocytosis X of the vulva: a case report and review of the literature. 54 61
2406669 1990
29
Multisystem Langerhans cell histiocytosis in an adult non-smoker treated with steroid therapy. 61
32547768 2020
30
Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. 61
32383820 2020
31
Solitary adult xanthogranuloma in external auditory canal: Cyto-histopathological correlation of an uncommon entity at an uncommon site. 61
32275346 2020
32
Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review. 61
32572610 2020
33
Rosai-Dorfman Disease-Utility of 18F-FDG PET/CT for Initial Evaluation and Follow-up. 61
32349088 2020
34
Clinical, histopathologic, and immunoarchitectural features of dermatopathic lymphadenopathy: an update. 61
31896812 2020
35
Langerhans cell histiocytosis of the thyroid together with papillary thyroid carcinoma. 61
32314308 2020
36
Cyclin D1 and BRAF V600E immunohistochemical staining in pulmonary Langerhans cell histiocytosis. 61
31965621 2020
37
Langerhans cell histiocytosis confined to extrahepatic bile duct causing sclerosing cholangitis in child: a case report. 61
32548778 2020
38
[Solitary Langerhans cell histiocytosis of the stomach: report of a case]. 61
32486547 2020
39
CSF1R Is Required for Differentiation and Migration of Langerhans Cells and Langerhans Cell Histiocytosis. 61
32238382 2020
40
Clinical features and outcomes of adult Langerhans cell histiocytosis: a single-center experience. 61
32514929 2020
41
Clinical outcomes and survival following lung transplantation in patients with pulmonary Langerhans cell histiocytosis. 61
31407478 2020
42
Foxp3+ Tregs from Langerhans cell histiocytosis lesions co-express CD56 and have a definitively regulatory capacity. 61
32283322 2020
43
Management of severe pulmonary Langerhans cell histiocytosis in children. 61
32511892 2020
44
Acquired Von Willebrand Syndrome Secondary to Langerhans Cell Histiocytosis. 61
31900848 2020
45
[Pulmonary Langerhans cell histiocytosis: discussion of a case]. 61
32486555 2020
46
Aggressive Langerhans cell histiocytosis transformation of T cell acute lymphoblastic leukemia detected on 18F-FDG PET/CT. 61
32504290 2020
47
Long-term efficacy and safety of 2CdA (cladribine) in extra-pulmonary adult-onset Langerhans cell histiocytosis: analysis of 23 cases from the French Histiocytosis Group and systematic literature review. 61
32191819 2020
48
Refractory Inflammatory Bowel Disease Associated With Sclerosing Cholangitis, Diabetes Insipidus, and Myeloid Neoplasm: Langerhans Cell Histiocytosis Was Hiding Since the Beginning. 61
32530029 2020
49
Smoking-associated interstitial lung disease: update and review. 61
32379511 2020
50
Prevalence, Epidemiology, Etiology, and Sensitivity of Invasive Bacterial Infections in Pediatric Patients Undergoing Oncological Treatment: A Multicenter Nationwide Study. 61
32434455 2020

Variations for Langerhans Cell Histiocytosis

Expression for Langerhans Cell Histiocytosis

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

Pathways for Langerhans Cell Histiocytosis

Pathways related to Langerhans Cell Histiocytosis according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Langerhans Cell Histiocytosis according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 NRAS MAP2K1 LIF ITGAX IL17A CSF1
2
Show member pathways
13.5 S100B PTPRC NRAS MAP2K1 LIF ITGAX
3
Show member pathways
13.13 NRAS MAP2K1 LIF ITGAX IL17A FSCN1
4
Show member pathways
12.84 NRAS MAP2K1 ITGAX FSCN1 BRAF
5
Show member pathways
12.8 NRAS MAP2K1 LIF ITGAX BRAF ARAF
6
Show member pathways
12.77 NRAS MAP2K1 ITGAX BRAF ARAF
7 12.72 NRAS MAP2K1 CSF1 BRAF ARAF
8 12.59 NRAS MAP2K1 ITGAX BRAF ARAF
9
Show member pathways
12.45 NRAS MAP2K1 BRAF ARAF
10
Show member pathways
12.38 NRAS MAP2K1 BRAF ARAF
11
Show member pathways
12.37 PTPRC NRAS MAP2K1 BRAF
12
Show member pathways
12.35 NRAS MAP2K1 ITGAX BRAF ARAF
13
Show member pathways
12.29 NRAS MAP2K1 BRAF ARAF
14
Show member pathways
12.27 NRAS MAP2K1 BRAF ARAF
15 12.25 NRAS MAP2K1 BRAF ARAF
16
Show member pathways
12.25 NRAS MAP2K1 BRAF ARAF
17
Show member pathways
12.24 NRAS MAP2K1 BRAF ARAF
18
Show member pathways
12.19 NRAS MAP2K1 ITGAX BRAF ARAF
19
Show member pathways
12.13 NRAS MAP2K1 BRAF ARAF
20
Show member pathways
12.09 NRAS MAP2K1 BRAF ARAF
21
Show member pathways
12.04 NRAS MAP2K1 BRAF ARAF
22
Show member pathways
12.03 NRAS MAP2K1 BRAF ARAF
23 11.93 NRAS MAP2K1 BRAF ARAF
24 11.91 NRAS MAP2K1 BRAF ARAF
25 11.89 NRAS MAP2K1 BRAF ARAF
26
Show member pathways
11.88 PTPRC NRAS MAP2K1 BRAF ARAF
27
Show member pathways
11.87 NRAS MAP2K1 BRAF ARAF
28 11.86 CSF1 CD1C CD1A
29 11.86 LIF ITGAX IL17A FSCN1 F13A1
30 11.84 MAP2K1 BRAF ARAF
31 11.74 MAP2K1 BRAF ARAF
32
Show member pathways
11.74 NRAS MAP2K1 BRAF ARAF
33 11.71 PTPRC IL17A CD101 CCR6
34 11.7 PTPRC ITGAX CSF1 CD68 CD1C CD163
35 11.66 NRAS MAP2K1 BRAF ARAF
36
Show member pathways
11.59 NRAS MAP2K1 BRAF ARAF
37 11.54 NRAS MAP2K1 BRAF ARAF
38 11.48 MAP2K1 BRAF ARAF
39 11.37 NRAS MAP2K1 BRAF ARAF
40 11.27 NRAS MAP2K1 BRAF
41 11.25 NRAS MAP2K1 BRAF ARAF
42 11.04 PTPRC ITGAX CSF1 CD207 CD1C CD1A
43 10.98 MAP2K1 LIF ITGAX IL17A CSF1

GO Terms for Langerhans Cell Histiocytosis

Cellular components related to Langerhans Cell Histiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.77 PTPRC NRAS MAP2K1 ITGAX CSF1 CD68
2 external side of plasma membrane GO:0009897 9.17 PTPRC ITGAX IL17A CD1C CD1A CD163

Biological processes related to Langerhans Cell Histiocytosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.83 LIF IL17A CD1C CD1A CCR6
2 positive regulation of gene expression GO:0010628 9.8 MAP2K1 LIF ITGAX CSF1 BRAF
3 MAPK cascade GO:0000165 9.78 NRAS MAP2K1 BRAF ARAF
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.63 LIF BRAF ARAF
5 positive regulation of macrophage differentiation GO:0045651 9.49 LIF CSF1
6 regulation of axon regeneration GO:0048679 9.37 MAP2K1 BRAF
7 positive regulation of T cell mediated cytotoxicity GO:0001916 9.33 PTPRC CD1C CD1A
8 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.32 CD1C CD1A
9 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.26 CD1C CD1A
10 cytokine-mediated signaling pathway GO:0019221 9.1 LIF ITGAX IL17A FSCN1 F13A1 CSF1
11 DN2 thymocyte differentiation GO:1904155 8.96 PTPRC CCR6

Molecular functions related to Langerhans Cell Histiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.16 CD1C CD1A
2 exogenous lipid antigen binding GO:0030884 8.96 CD1C CD1A
3 endogenous lipid antigen binding GO:0030883 8.62 CD1C CD1A

Sources for Langerhans Cell Histiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....