LESD
MCID: LTT002
MIFTS: 33

Letterer-Siwe Disease (LESD)

Aliases & Classifications for Letterer-Siwe Disease

MalaCards integrated aliases for Letterer-Siwe Disease:

Name: Letterer-Siwe Disease 56 74 71
Histiocytosis X, Acute Disseminated 56
Histiocytosis, Langerhans-Cell 71
L-S Disease; Lesd 56
L-S Disease 56
Lesd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
letterer-siwe disease:
Inheritance autosomal recessive inheritance


Summaries for Letterer-Siwe Disease

MalaCards based summary : Letterer-Siwe Disease, also known as histiocytosis x, acute disseminated, is related to langerhans cell histiocytosis and hashimoto-pritzker syndrome, and has symptoms including fever The drugs Levoleucovorin and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and lymph node, and related phenotypes are fever and dyspnea

Wikipedia : 74 Letterer-Siwe disease is one of the four recognized clinical syndromes of Langerhans cell histiocytosis... more...

More information from OMIM: 246400

Related Diseases for Letterer-Siwe Disease

Graphical network of the top 20 diseases related to Letterer-Siwe Disease:



Diseases related to Letterer-Siwe Disease

Symptoms & Phenotypes for Letterer-Siwe Disease

Human phenotypes related to Letterer-Siwe Disease:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 fever 31 HP:0001945
2 dyspnea 31 HP:0002094
3 irritability 31 HP:0000737
4 anemia 31 HP:0001903
5 pulmonary infiltrates 31 HP:0002113
6 abnormality of the skeletal system 31 HP:0000924
7 pallor 31 HP:0000980
8 thrombocytopenia 31 HP:0001873
9 jaundice 31 HP:0000952
10 seborrheic dermatitis 31 HP:0001051
11 neutropenia 31 HP:0001875
12 encephalopathy 31 HP:0001298
13 hepatosplenomegaly 31 HP:0001433
14 abdominal distention 31 HP:0003270
15 stomatitis 31 HP:0010280

Symptoms via clinical synopsis from OMIM:

56
Misc:
fever
onset in first year

Heme:
anemia
thrombocytopenia
neutropenia

Neuro:
encephalopathy
infantile irritability

Abdomen:
distended abdomen

Lab:
histiocytosis x (eosinophilic granuloma)
histiocytic infiltration of the liver, spleen and lymph nodes

Resp:
dyspnea

Skin:
pallor
jaundice
stomatitis
seborrhea
diffuse papulo-vesicular rash
more
G I:
hepatosplenomegaly

Radiology:
pulmonic infiltration
lytic osseous lesions

Clinical features from OMIM:

246400

UMLS symptoms related to Letterer-Siwe Disease:


fever

Drugs & Therapeutics for Letterer-Siwe Disease

Drugs for Letterer-Siwe Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
2
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
3
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
4
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
5
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
6
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
7
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
8
Mercaptopurine Approved Phase 2, Phase 3 50-44-2 667490
9
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Vinblastine Approved Phase 2, Phase 3 865-21-4 241903 13342
13
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
14 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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 2, Phase 3 2920-86-7
20 Micronutrients Phase 3
21 Trace Elements Phase 3
22 Vitamins Phase 3
23 Antidotes Phase 3
24 Nutrients Phase 3
25 Protective Agents Phase 3
26 Vitamin B Complex Phase 2, Phase 3
27 Hormones Phase 2, Phase 3
28 Folic Acid Antagonists Phase 2, Phase 3
29 Folate Phase 2, Phase 3
30 Dermatologic Agents Phase 2, Phase 3
31 Antirheumatic Agents Phase 2, Phase 3
32 Vitamin B9 Phase 2, Phase 3
33 Antimetabolites Phase 3
34 Anti-Infective Agents Phase 2, Phase 3
35 Antiviral Agents Phase 2, Phase 3
36 Antineoplastic Agents, Hormonal Phase 2, Phase 3
37 Hormone Antagonists Phase 2, Phase 3
38 glucocorticoids Phase 2, Phase 3
39 Anti-Inflammatory Agents Phase 2, Phase 3
40 Analgesics, Non-Narcotic Phase 2, Phase 3
41 Analgesics Phase 2, Phase 3
42 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
43 Immunoglobulins Phase 2, Phase 3
44 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
45 Antibodies Phase 2, Phase 3
46 Immunoglobulins, Intravenous Phase 2, Phase 3
47 Methylprednisolone Acetate Phase 2, Phase 3
48 Rho(D) Immune Globulin Phase 2, Phase 3
49 Cyclooxygenase Inhibitors Phase 2, Phase 3
50 Tubulin Modulators Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 52)
# 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 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
3 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
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 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
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 Treatment of Resistant Langerhans Cell Histiocytosis With Etanercept (ENBREL, IMMUNEX, SEATTLE) Completed NCT00048373 Phase 2 Etanercept
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 Phase II Study of Clofarabine in Patients With Recurrent or Refractory Langerhans Cell Histiocytosis and LCH-related Disorders Recruiting NCT02425904 Phase 2 Clofarabine
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 Vemurafenib in Patients With Tumors Harboring Braf V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
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 Olaparib in Patients With Tumors Harboring Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
19 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
20 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
21 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
22 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
23 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
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 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]
26 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
27 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
28 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
29 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
30 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
31 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
32 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
33 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
34 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
35 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
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 Functional and Genetical Characterization of Pulmonary Langerhans Cell Histiocytosis: Diagnostic and Therapeutical Implications. Unknown status NCT03093727
41 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Unknown status NCT03052101
42 CARDIOVASCULAR RISK FACTORS IN ADULT PATIENTS WITH MULTISYSTEM LANGERHANS-CELL HISTIOCYTOSIS: EVIDENCE OF GLUCOSE METABOLISM ABNORMALITIES Unknown status NCT00483925
43 Pilot Study to Determine Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
44 Epidemiology of Adult Adult Pulmonary Langerhans Cell Histiocytosis - A Multicenter Cohort Study Completed NCT01225601
45 Evaluation of Outcome of Adult Pulmonary Langerhans Cell Histiocytosis Based on Lung HRCT and Lung Function. A Multicenter Retrospective Study Completed NCT01651507
46 Establishing Continuous Cell Lines and Xenografts From Pediatric Cancers for Biological and Pre-Clinical Therapeutic Studies Completed NCT00898755
47 Treatment Protocol of the Third International Study For Langerhans Cell Histiocytosis Completed NCT00276757 leucovorin calcium;methotrexate;prednisolone;vinblastine sulfate
48 Evaluation of Exercise Capacity and Mechanisms of Exercise Limitation in Patients With Pulmonary Langerhans Cell Histiocytosis Completed NCT02665546
49 Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH) Recruiting NCT04100408
50 The Project: EveryChild Protocol: A Registry, Eligibility Screening, Biology and Outcome Study Recruiting NCT02402244

Search NIH Clinical Center for Letterer-Siwe Disease

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


Thalidomide

Genetic Tests for Letterer-Siwe Disease

Anatomical Context for Letterer-Siwe Disease

MalaCards organs/tissues related to Letterer-Siwe Disease:

40
Bone, Lung, Lymph Node, Liver, Skin, Spleen, T Cells

Publications for Letterer-Siwe Disease

Articles related to Letterer-Siwe Disease:

(show top 50) (show all 352)
# Title Authors PMID Year
1
Familial occurrence of Letterer-Siwe disease. 61 56
5018627 1972
2
U.S. mortality from Letterer-Siwe disease, 1960-1964. 61 56
5663744 1968
3
FAMILIAL OCCURRENCE OF LETTERER-SIWE DISEASE. 56 61
14084326 1963
4
Familial Letterer-Siwe disease. Report of a case. 61 56
14037540 1962
5
Langerhans cell histiocytosis. 56
7608790 1995
6
Familial occurrence of histiocytosis. 56
300046 1977
7
Familial pulmonary histiocytosis-X. 56
4695633 1973
8
Genetic determination of acute disseminated histiocytosis X. 56
5444399 1970
9
A unique manifestation of Langerhans cell histiocytosis: Diagnostic and therapeutic considerations of atypical cases. 61
29940687 2018
10
Multidisciplinary approach in a case of Hand-Schüller-Christian disease with maxillary involvement. 61
29418009 2018
11
"Histiocytosis X" - A Rare Case Report. 61
27891484 2016
12
Gastrointestinal: Letterer Siwe disease: An uncommon gastrointestinal presentation. 61
26757250 2016
13
Congenital self-healing reticulohistiocytosis: an underreported entity. 61
27163913 2016
14
Localized Langerhans cell histiocytosis masquerading as Brodie's abscess in a 2-year-old child: a case report. 61
27065773 2016
15
Solitary extragnathic langerhans cell histiocytosis - a rare case. 61
25954715 2015
16
Solitary eosinophilic granuloma of mandibular condyle: literature review and report of a rare case. 61
25861187 2015
17
Langerhans-cell histiocytosis (LCH) a presentation of two siblings with two different entities. 61
26191478 2015
18
Hand schuller christian disease: a rare case report with oral manifestation. 61
25738095 2015
19
Diagnosis and management of langerhans cell histiocytosis. 61
25281259 2014
20
A rare occurrence of Langerhans cell histiocytosis in an adult. 61
25948998 2014
21
Narrowband ultraviolet B light in Langerhans cell histiocytosis: a case report. 61
24224945 2014
22
29 year-old male with seizure and syncope. Intracerebral Langerhans cell histiocytosis. 61
23587144 2013
23
[Letterer Siwe disease in an adult: a case report]. 61
23336233 2012
24
A rare case of langerhans cell histiocytosis of the gastrointestinal tract. 61
22493557 2012
25
Operative case of Langerhans'cell histiocytosis of the skull with dural invasion. An immunohystochemical study of ki-67 expression of eosinophilic granuloma: case report and review of the literature. 61
22415385 2012
26
Eosinophilic granuloma: resolution of lesion after biopsy. 61
22134295 2011
27
Letterer-Siwe disease associated with chronic myelomyonocytic leukemia: a fortuitous association? 61
20372775 2010
28
Analysis of histiocytosis deaths in the US and recommendations for incidence tracking. 61
21688746 2010
29
[Langerhans cell histiocytosis]. 61
19828161 2009
30
Oral Langerhans cell histiocytosis in Malaysian children: a 40-year experience. 61
19486369 2009
31
[Langerhans cell histiocytosis: Letterer-Siwe disease - the importance of dermatological diagnosis in two cases]. 61
19851674 2009
32
Langerhans cell histiocytosis, a case of Letterer Siwe disease. 61
19785312 2009
33
Langerhans cell histiocytosis: literature review and descriptive analysis of oral manifestations. 61
19218906 2009
34
Langerhans cell histiocytosis presented as bilateral otitis media and mastoiditis. 61
18365596 2008
35
[Clinical and pathologic features of Letterer-Siwe disease: a case report and review]. 61
18072575 2007
36
A case report of langerhans histiocytosis presenting sequentially over a 21-year period with Letterer-Siwe disease, hand-Schuller-Christian disease and eosinophillic granuloma of bone. 61
17114962 2006
37
Disseminated crusted papules in a newborn. 61
16875431 2006
38
Splenic infarction in Letterer-Siwe disease. 61
15910461 2005
39
Spontaneous regression of supratentorial intracerebral Langerhans' cell histiocytosis. 61
15326050 2004
40
Congenital self-healing reticulohistiocytosis: report of a case and review of the literature. 61
15124855 2004
41
[One neonatal patient with letterer-siwe disease]. 61
14751071 2003
42
Quiz. Langerhans cell histiocytosis (Letterer-Siwe disease). 61
17642901 2003
43
[Eosinophilic granuloma of the temporal bone. Case report and literature review]. 61
12717600 2003
44
Tumours of histiocytes and accessory dendritic cells: an immunohistochemical approach to classification from the International Lymphoma Study Group based on 61 cases. 61
12121233 2002
45
Bilateral multifocal uveal juvenile xanthogranuloma in a young boy with systemic disease. 61
12107521 2002
46
Self-healing congenital Langerhans cell histiocytosis presenting as neonatal papulovesicular eruption. 61
11907857 2001
47
Letterer siwe disease. 61
17664795 2001
48
Langerhans cell histiocytosis of the thyroid gland. A case report. 61
11015983 2000
49
Histiocytosis of the temporal bone. 61
23119694 2000
50
Electron microscopic study of Langerhans cell histiocytosis. 61
10935343 2000

Variations for Letterer-Siwe Disease

Expression for Letterer-Siwe Disease

Search GEO for disease gene expression data for Letterer-Siwe Disease.

Pathways for Letterer-Siwe Disease

GO Terms for Letterer-Siwe Disease

Sources for Letterer-Siwe Disease

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