LCH
MCID: LNG108
MIFTS: 58

Langerhans Cell Histiocytosis (LCH)

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

Aliases & Classifications for Langerhans Cell Histiocytosis

MalaCards integrated aliases for Langerhans Cell Histiocytosis:

Name: Langerhans Cell Histiocytosis 57 74 20 43 58 36 29 54 15 17
Histiocytosis X 12 74 20 43 58 54
Langerhans Cell Granulomatosis 12 43 58
Lch 57 20 43
Histiocytosis, Langerhans-Cell 44 71
Langerhans-Cell Histiocytosis 12 15
Hashimoto-Pritzger Disease 43 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 44

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 respiratory diseases
Rare systemic and rhumatological diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2571
OMIM® 57 604856
KEGG 36 H01512
ICD9CM 34 202.5
NCIt 50 C3107 C3160
SNOMED-CT 67 154583006 234439008
ICD10 32 C96.0 C96.6
MESH via Orphanet 45 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

MedlinePlus Genetics : 43 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 erdheim-chester disease and non-langerhans-cell histiocytosis, 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 leucovorin and Vinblastine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related phenotypes are Reduced mammosphere formation and hematopoietic system

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

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

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 an abnormal clonal proliferation of Langerhans cells, abnormal... 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 781)
# Related Disease Score Top Affiliating Genes
1 erdheim-chester disease 32.3 NRAS CD1C CD1A BRAF
2 non-langerhans-cell histiocytosis 32.3 U2AF1 F13A1 CD207 CD1C CD1A CD163
3 reticulohistiocytic granuloma 32.1 CD1C CD1A CD163
4 langerhans cell sarcoma 32.0 CD207 CD1C CD1A CD163
5 juvenile xanthogranuloma 31.5 S100B FSCN1 F13A1 CD1A BRAF
6 dendritic cell tumor 31.0 S100B PTPRC IFNG FSCN1 CD207 CD1A
7 seborrheic dermatitis 30.9 CD207 CD1C CD1A CCR6
8 central nervous system disease 30.6 U2AF1 IL17A IFNG CCR6
9 lichen planus 30.5 IL17A IFNG CD1A
10 fibrosarcoma of bone 30.5 CSF1 CD1C CD1A
11 rosai-dorfman disease 30.5 S100B MAP2K1 FSCN1 CD163 BRAF
12 folliculitis 30.4 IFNG CD1C CD1A CCR6
13 lichen nitidus 30.4 CD1C CD1A
14 fibroblastic rheumatism 30.3 F13A1 CD163
15 central nervous system vasculitis 30.3 IL17A IFNG CCR6
16 dermatophytosis 30.3 IL17A CSF1 CCR6
17 spongiotic dermatitis 30.3 CD1C CD1A
18 granuloma annulare 30.3 F13A1 CD1C CD1A
19 spondylitis 30.2 IL17A IFNG CCR6
20 hairy cell leukemia 30.2 U2AF1 MAP2K1 ITGAX BRAF
21 interdigitating dendritic cell sarcoma 30.2 FSCN1 CD1C CD1A
22 hashimoto thyroiditis 30.2 NRAS IL17A IFNG CCR6 BRAF
23 orbital cancer 30.2 CD1C CD1A
24 granulomatous dermatitis 30.2 CD1C CD163 BRAF
25 chediak-higashi syndrome 30.1 ITGAX IL17A CD207 CCR6
26 suppurative lymphadenitis 30.1 IFNG CCR6
27 adult xanthogranuloma 30.0 CD207 CD1C CD1A CD163
28 skin sarcoidosis 30.0 IFNG CD1C
29 villonodular synovitis 30.0 PTPRC CSF1
30 mycobacterium tuberculosis 1 30.0 PTPRC IL17A IFNG CD1C CD1A CCR6
31 chronic myelomonocytic leukemia 30.0 U2AF1 NRAS ITGAX CSF1
32 lung cancer susceptibility 3 30.0 U2AF1 NRAS MAP2K1 BRAF ARAF
33 multicentric reticulohistiocytosis 30.0 F13A1 CSF1
34 generalized eruptive histiocytosis 30.0 S100B F13A1
35 fibrous histiocytoma 30.0 S100B F13A1 CD163
36 crohn's disease 29.9 ITGAX IL17A IFNG CCR6
37 myeloma, multiple 29.9 U2AF1 PTPRC NRAS CCR6 BRAF
38 necrobiosis lipoidica 29.9 CD1A CD163
39 castleman disease 29.9 S100B IFNG FSCN1 F13A1
40 histiocytic and dendritic cell cancer 29.8 PTPRC CD207 CD1C CD1A CD163
41 leukemia, acute myeloid 29.8 U2AF1 PTPRC NRAS MAP2K1 ITGAX CCR6
42 bacterial meningitis 29.8 S100B IL17A IFNG
43 acute promyelocytic leukemia 29.8 PTPRC NRAS MAP2K1 ITGAX CSF1
44 malignant fibrous histiocytoma 29.7 S100B PTPRC F13A1
45 leprosy 3 29.6 IL17A IFNG CD1C CD1A CCR6
46 lymph node disease 29.6 PTPRC ITGAX IL17A IFNG CCR6
47 disease by infectious agent 29.6 PTPRC IL17A IFNG CD207 CD1C CD1A
48 skin carcinoma 29.6 PTPRC NRAS MAP2K1 CCR6 BRAF ARAF
49 combined immunodeficiency 29.5 PTPRC ITGAX IL17A IFNG CCR6
50 aplastic anemia 29.5 U2AF1 NRAS LIF IFNG CSF1

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 (Updated 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 ARAF BRAF CCR6 CD101 CD163 CD207
2 endocrine/exocrine gland MP:0005379 10.02 ARAF BRAF CSF1 F13A1 IFNG IL17A
3 immune system MP:0005387 10 ARAF BRAF CCR6 CD101 CD163 CD207
4 digestive/alimentary MP:0005381 9.97 ARAF BRAF IFNG IL17A LIF MAP2K1
5 integument MP:0010771 9.7 BRAF CSF1 F13A1 FSCN1 IFNG IL17A
6 respiratory system MP:0005388 9.32 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 125)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 6006
2
Vinblastine Approved Phase 3 865-21-4 13342 241903
3
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
4 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
6
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
7
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
8
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
9
Mercaptopurine Approved Phase 3 50-44-2 667490
10
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
11
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
12
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
13
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
14
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
15
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
16
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
17
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
19
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
20 Micronutrients Phase 3
21 Nutrients Phase 3
22 Trace Elements Phase 3
23 Vitamins Phase 3
24 Antidotes Phase 3
25 Anti-Inflammatory Agents Phase 3
26 Analgesics, Non-Narcotic Phase 2, Phase 3
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
28 Analgesics Phase 2, Phase 3
29 Antirheumatic Agents Phase 2, Phase 3
30 Liver Extracts Phase 3
31 Hormones Phase 3
32 Hormone Antagonists Phase 3
33 Anti-Infective Agents Phase 3
34 glucocorticoids Phase 3
35 Antiviral Agents Phase 3
36 Antimitotic Agents Phase 3
37 Tubulin Modulators Phase 3
38 Antineoplastic Agents, Hormonal Phase 3
39 Methylprednisolone Acetate Phase 3
40 Folic Acid Antagonists Phase 2, Phase 3
41 Vitamin B Complex Phase 2, Phase 3
42 Folate Phase 2, Phase 3
43 Vitamin B9 Phase 2, Phase 3
44 Dermatologic Agents Phase 2, Phase 3
45 gamma-Globulins Phase 2, Phase 3
46 Immunoglobulins Phase 2, Phase 3
47 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
48 Cyclooxygenase Inhibitors Phase 2, Phase 3
49 Immunoglobulins, Intravenous Phase 2, Phase 3
50 Rho(D) Immune Globulin Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 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
5 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
6 Transplantation Using Umbilical Cord And Placental Blood Unknown status NCT00008164 Phase 2
7 Treatment of Resistant Langerhans Cell Histiocytosis With Etanercept (ENBREL, IMMUNEX, SEATTLE) Completed NCT00048373 Phase 2 Etanercept
8 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
9 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
10 Efficacy and Tolerance of Combination Chemotherapy With Methotrexate and Cytosine Arabinoside in Newly Diagnosed Adult With Langerhans Cell Histiocytosis Completed NCT02389400 Phase 2 methotrexate
11 Impact of Intervention With Deferasirox on the Immune Function of Patients With Hematologic Diseases and Transfusion-Related Iron Overload Completed NCT01273766 Phase 2 deferasirox
12 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)
13 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
14 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
15 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
16 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Recruiting NCT04320888 Phase 2 Selpercatinib
17 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
18 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
19 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
20 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
21 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
22 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
23 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
24 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
25 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
26 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
27 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
28 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
29 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
30 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
31 Evaluation of Efficacy of Denosumab in Adult Patients With Langerhans Cell Histiocytosis (LCH): a Multiple-site, Single Arm, Open Label Clinical Trial Active, not recruiting NCT03270020 Phase 2 Denosumab 70 MG/ML [Xgeva]
32 Phase II Study of Clofarabine in Patients With Recurrent or Refractory Langerhans Cell Histiocytosis and LCH-related Disorders Active, not recruiting NCT02425904 Phase 2 Clofarabine
33 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
34 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
35 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 Suspended NCT03213665 Phase 2 Tazemetostat
36 Reduced Intensity Hematopoietic Cell Transplantation for Patients With Resistant Langerhans Cell Histiocytosis Terminated NCT00618540 Phase 2 fludarabine phosphate;melphalan
37 Phase II Study of Clofarabine in Patients With Recurrent or Refractory Langerhans Cell Histiocytosis Withdrawn NCT01796405 Phase 2 Clofarabine
38 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
39 A Phase I Study of [111In-DTPA-D-Phe]-Octreotide in Patients With Refractory Malignancies Expressing Somatostatin Receptors Terminated NCT00002947 Phase 1
40 CARDIOVASCULAR RISK FACTORS IN ADULT PATIENTS WITH MULTISYSTEM LANGERHANS-CELL HISTIOCYTOSIS: EVIDENCE OF GLUCOSE METABOLISM ABNORMALITIES Unknown status NCT00483925
41 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Unknown status NCT03052101
42 Treatment Protocol of the Third International Study For Langerhans Cell Histiocytosis Completed NCT00276757 leucovorin calcium;methotrexate;prednisolone;vinblastine sulfate
43 Epidemiology of Adult Adult Pulmonary Langerhans Cell Histiocytosis - A Multicenter Cohort Study Completed NCT01225601
44 Evaluation of Exercise Capacity and Mechanisms of Exercise Limitation in Patients With Pulmonary Langerhans Cell Histiocytosis Completed NCT02665546
45 Evaluation of Outcome of Adult Pulmonary Langerhans Cell Histiocytosis Based on Lung HRCT and Lung Function. A Multicenter Retrospective Study Completed NCT01651507
46 Pilot Study to Determine Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
47 Enquête épidémiologique Sur la prévalence et le Pronostic de l'Histiocytose Langerhansienne Pulmonaire de l'Adulte en France Recruiting NCT04665674
48 Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH) Recruiting NCT04100408
49 Functional and Genetical Characterization of Pulmonary Langerhans Cell Histiocytosis: Diagnostic and Therapeutical Implications. Recruiting NCT03093727
50 A Clinical, Structural, and Functional Neuroimaging Study of Cognition in Adults With Erdheim-Chester Disease, Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Other Histiocytoses Recruiting NCT03127709

Search NIH Clinical Center for Langerhans Cell Histiocytosis

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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
Bone, Lung, Skin, Pituitary, Thyroid, Liver, Bone Marrow

Publications for Langerhans Cell Histiocytosis

Articles related to Langerhans Cell Histiocytosis:

(show top 50) (show all 5782)
# Title Authors PMID Year
1
Interleukin-17A is not expressed by CD207(+) cells in Langerhans cell histiocytosis lesions. 61 57
19424201 2009
2
Langerhans cell histiocytosis reveals a new IL-17A-dependent pathway of dendritic cell fusion. 61 57
18157139 2008
3
Hypothalamo-pituitary abnormalities in adult patients with langerhans cell histiocytosis: clinical, endocrinological, and radiological features and response to treatment. 57 61
10770168 2000
4
Familial clustering of Langerhans cell histiocytosis. 57 61
10606898 1999
5
Langerhans cell histiocytosis. 61 57
7608790 1995
6
Differential immunophenotypic analysis of dendritic cell tumours. 61 54
20439325 2010
7
Immunocytochemical investigation of Langerin (CD207) is a valuable adjunct in the cytological diagnosis of Langerhans cell histiocytosis of the thyroid. 54 61
19195798 2009
8
Immunohistochemical expression of Langerin in Langerhans cell histiocytosis and non-Langerhans cell histiocytic disorders. 61 54
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. 61 54
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]. 54 61
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. 54 61
11044648 2000
18
DNA polymorphisms and mutations of the tumor necrosis factor-alpha (TNF-alpha) promoter in Langerhans cell histiocytosis (LCH). 61 54
9355965 1997
19
Molecular analysis of the t(15;17) translocation in de novo and secondary acute promyelocytic leukemia. 61 54
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. 61 54
8965684 1996
22
Modulation of fibroblast activity in histiocytosis X by platelet-derived growth factor. 61 54
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. 54 61
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. 61 54
1519935 1992
27
Histiocytosis X. S-100 protein, peanut agglutinin, and transmission electron microscopy study. 54 61
2239828 1990
28
Histiocytosis X of the vulva: a case report and review of the literature. 54 61
2406669 1990
29
Unifocal Langerhans cell histiocytosis of bone: percutaneous navigational bipolar radiofrequency ablation for curative treatment. 61
33217670 2021
30
Haploidentical stem cell transplantation with posttransplant cyclophosphamide in pediatric refractory Langerhans cell histiocytosis: A case report. 61
33001580 2021
31
Mitogen-activating protein kinase pathway alterations in Langerhans cell histiocytosis. 61
33315630 2021
32
Histiocytic Diseases of Neonates: Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Juvenile Xanthogranuloma. 61
33583503 2021
33
Congenital Unilesional Cutaneous Langerhans Cell Histiocytosis: A Case Report. 61
32769549 2021
34
Unisystem Langerhans cell histiocytosis in maxillofacial region in pediatrics: comprehensive and systematic review. 61
33591444 2021
35
Langerhans cell histiocytosis associated with chronic myelomonocytic leukaemia both harbouring the same BRAF V600E mutation: efficacy of vemurafenib. 61
32757402 2021
36
Single-agent cladribine as an effective front-line therapy for adults with Langerhans cell histiocytosis. 61
33539584 2021
37
Adult form of Langerhans cell histiocytosis with pulmonary and hepatic involvement mimicking malignancy in a patient with chronic hepatitis C infection. 61
33318775 2021
38
Histiocytosis and Neoplasms of Macrophage-Dendritic Cell Lineages: Multimodality Imaging with Emphasis on PET/CT. 61
33606566 2021
39
Central Nervous System Complications of Erdheim-Chester Disease: FDG PET/CT Findings. 61
33577201 2021
40
Pregnant patient with extranodal CNS Rosai-Dorfman disease with new-onset seizures: the conundrum of differentiating disease progression from eclampsia. 61
33602767 2021
41
Long-term complications in uniformly treated paediatric Langerhans histiocytosis patients disclosed by 12 years of follow-up of the JLSG-96/02 studies. 61
33236384 2021
42
MRI features of intra-axial histiocytic brain mass lesions. 61
33077156 2021
43
Autopsy case of Rosai-Dorfman disease presenting as fibrinous pericarditis. 61
33227653 2021
44
Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency. 61
33563302 2021
45
Non-Langerhans cell histiocytosis xanthogranuloma patient with varying histopathology leading to progressive nodular histiocytosis. 61
33586878 2021
46
Salvage therapy with 2-chlorodeoxyadenosine for refractory and relapsed pediatric Langerhans cell histiocytosis: an updated nationwide survey in Japan. 61
33564966 2021
47
Common presentation: Rare disease: Adult Langerhans cell histiocytosis. 61
33535881 2021
48
Aggressive Langerhans cell histiocytosis transformation of T cell acute lymphoblastic leukemia detected on 18F-FDG PET/CT. 61
32504290 2021
49
Langerhans cell histiocytosis in children under 12 months of age: The spectrum of imaging and clinical findings: Experience in an Irish tertiary referral centre. 61
33261936 2021
50
Bone marrow involvement by CD1a-negative langerhans cell histiocytosis with associated hemophagocytosis. 61
33404985 2021

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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 NRAS MAP2K1 LIF ITGAX IL17A CSF1
2
Show member pathways
13.65 NRAS MAP2K1 LIF IL17A IFNG CSF1
3
Show member pathways
13.5 S100B PTPRC NRAS MAP2K1 LIF ITGAX
4
Show member pathways
13.11 NRAS MAP2K1 LIF ITGAX IL17A IFNG
5 12.82 NRAS MAP2K1 IFNG BRAF ARAF
6
Show member pathways
12.81 NRAS MAP2K1 LIF ITGAX BRAF ARAF
7
Show member pathways
12.78 NRAS MAP2K1 ITGAX BRAF ARAF
8 12.74 NRAS MAP2K1 CSF1 BRAF ARAF
9
Show member pathways
12.63 NRAS MAP2K1 IFNG BRAF ARAF
10 12.61 NRAS MAP2K1 ITGAX BRAF ARAF
11
Show member pathways
12.56 PTPRC NRAS MAP2K1 IL17A IFNG
12
Show member pathways
12.46 NRAS MAP2K1 IFNG BRAF ARAF
13
Show member pathways
12.4 NRAS MAP2K1 BRAF ARAF
14
Show member pathways
12.38 PTPRC NRAS MAP2K1 BRAF
15
Show member pathways
12.37 NRAS MAP2K1 ITGAX BRAF ARAF
16
Show member pathways
12.31 NRAS MAP2K1 BRAF ARAF
17
Show member pathways
12.31 NRAS MAP2K1 BRAF ARAF
18 12.28 NRAS MAP2K1 BRAF ARAF
19
Show member pathways
12.27 NRAS MAP2K1 BRAF ARAF
20
Show member pathways
12.27 NRAS MAP2K1 BRAF ARAF
21 12.2 NRAS MAP2K1 ITGAX FSCN1
22
Show member pathways
12.19 NRAS MAP2K1 ITGAX BRAF ARAF
23
Show member pathways
12.14 NRAS MAP2K1 BRAF ARAF
24
Show member pathways
12.1 NRAS MAP2K1 BRAF ARAF
25
Show member pathways
12.04 NRAS MAP2K1 BRAF ARAF
26
Show member pathways
12.03 NRAS MAP2K1 BRAF ARAF
27 11.93 NRAS MAP2K1 BRAF ARAF
28 11.91 NRAS MAP2K1 BRAF ARAF
29 11.89 NRAS MAP2K1 BRAF ARAF
30 11.89 LIF ITGAX IL17A FSCN1 F13A1
31
Show member pathways
11.87 NRAS MAP2K1 BRAF ARAF
32 11.86 MAP2K1 BRAF ARAF
33 11.84 IL17A IFNG CSF1
34 11.76 MAP2K1 BRAF ARAF
35
Show member pathways
11.74 NRAS MAP2K1 BRAF ARAF
36 11.7 PTPRC ITGAX IFNG CSF1 CD1C CD163
37 11.67 NRAS MAP2K1 BRAF ARAF
38 11.67 PTPRC IL17A IFNG CD101 CCR6
39
Show member pathways
11.62 MAP2K1 IFNG BRAF
40
Show member pathways
11.61 NRAS MAP2K1 BRAF ARAF
41 11.58 PTPRC NRAS MAP2K1 BRAF ARAF
42 11.56 NRAS MAP2K1 BRAF ARAF
43 11.5 MAP2K1 BRAF ARAF
44 11.39 NRAS MAP2K1 BRAF ARAF
45 11.28 NRAS MAP2K1 BRAF ARAF
46 11.27 NRAS MAP2K1 BRAF
47 11.09 PTPRC ITGAX IFNG CSF1 CD207 CD1C
48 11 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 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 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.93 S100B LIF ITGAX IFNG CSF1
2 MAPK cascade GO:0000165 9.86 NRAS MAP2K1 BRAF ARAF
3 positive regulation of gene expression GO:0010628 9.85 MAP2K1 LIF ITGAX IFNG CSF1 BRAF
4 defense response to virus GO:0051607 9.8 PTPRC ITGAX IFNG CD207
5 immune response GO:0006955 9.8 LIF IL17A IFNG CD1C CD1A CCR6
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.7 LIF BRAF ARAF
7 positive regulation of tumor necrosis factor production GO:0032760 9.69 PTPRC IL17A IFNG
8 positive regulation of macrophage differentiation GO:0045651 9.55 LIF CSF1
9 regulation of axon regeneration GO:0048679 9.48 MAP2K1 BRAF
10 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.46 CD1C CD1A
11 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.43 CD1C CD1A
12 positive regulation of interleukin-23 production GO:0032747 9.4 IL17A IFNG
13 positive regulation of T cell mediated cytotoxicity GO:0001916 9.33 PTPRC CD1C CD1A
14 DN2 thymocyte differentiation GO:1904155 9.26 PTPRC CCR6
15 positive regulation of osteoclast differentiation GO:0045672 9.13 IL17A IFNG CSF1
16 cytokine-mediated signaling pathway GO:0019221 9.1 LIF ITGAX IL17A FSCN1 F13A1 CSF1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 U2AF1 S100B PTPRC NRAS MAP2K1 LIF
2 cytokine activity GO:0005125 9.56 LIF IL17A IFNG CSF1
3 lipopeptide binding GO:0071723 9.16 CD1C CD1A
4 exogenous lipid antigen binding GO:0030884 8.96 CD1C CD1A
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....