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MCID: LPG001
MIFTS: 33

Lipogranulomatosis

Categories: Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Lipogranulomatosis

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MalaCards integrated aliases for Lipogranulomatosis:

Name: Lipogranulomatosis 53 55
Erdheim-Chester Disease 73
Lipogranuloma 73

Classifications:

MalaCards categories:
Global: Rare diseases
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Summaries for Lipogranulomatosis

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MalaCards based summary : Lipogranulomatosis, also known as erdheim-chester disease, is related to farber lipogranulomatosis and glycoprotein storage disease. An important gene associated with Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Sphingolipid metabolism and G-protein signaling N-RAS regulation pathway. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and brain.

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Related Diseases for Lipogranulomatosis

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Diseases related to Lipogranulomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 12.7
2 glycoprotein storage disease 9.9
3 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
4 arthritis 9.9
5 lymphoma 9.9
6 obstructive jaundice 9.9
7 sclerosing cholangitis 9.9
8 panniculitis 9.9
9 facial dermatosis 9.9
10 hypersplenism 9.9
11 lymphosarcoma 9.9
12 cholangitis 9.9
13 fetal edema 9.9
14 hydrops fetalis 9.9

Graphical network of the top 20 diseases related to Lipogranulomatosis:



Diseases related to Lipogranulomatosis
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Symptoms & Phenotypes for Lipogranulomatosis

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Drugs & Therapeutics for Lipogranulomatosis

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Drugs for Lipogranulomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
4
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
5
Cetuximab Approved Phase 2,Phase 1 205923-56-4 56842117 2333
6
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
7
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
8
Olaparib Approved Phase 2 763113-22-0 23725625
9
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
10
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5330286 5005498
11
Lenalidomide Approved Phase 2 191732-72-6 216326
12 Protein Kinase Inhibitors Phase 2
13 Mitogens Phase 2,Phase 1
14 Antioxidants Phase 2
15 Free Radical Scavengers Phase 2
16 Protective Agents Phase 2
17 Immunosuppressive Agents Phase 2,Phase 1
18 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
19 tyrosine Phase 2
20 Anti-Bacterial Agents Phase 2,Phase 1
21 Antibiotics, Antitubercular Phase 2,Phase 1
22 Antifungal Agents Phase 2,Phase 1
23 Immunologic Factors Phase 2,Phase 1
24 Anti-Infective Agents Phase 2,Phase 1
25 Angiogenesis Inhibitors Phase 2,Phase 1
26 Angiogenesis Modulating Agents Phase 2,Phase 1
27
Valproic Acid Approved, Investigational Phase 1 99-66-1 3121
28
Bevacizumab Approved, Investigational Phase 1 216974-75-3
29 Immunoglobulin G Phase 1
30 GABA Agents Phase 1
31 Psychotropic Drugs Phase 1
32 Central Nervous System Depressants Phase 1
33 Endothelial Growth Factors Phase 1
34 Tranquilizing Agents Phase 1
35 Antibodies, Monoclonal Phase 1
36 Antimanic Agents Phase 1
37 Anticonvulsants Phase 1
38 Neurotransmitter Agents Phase 1
39 Antibodies Phase 1
40 Immunoglobulins Phase 1
41
Choline Approved, Nutraceutical 62-49-7 305
42 Nootropic Agents
43 Antimetabolites
44 Lipid Regulating Agents
45 Gastrointestinal Agents
46 Hypolipidemic Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Completed NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
2 A Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Cancers Completed NCT01524978 Phase 2 cetuximab;vemurafenib;vemurafenib
3 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
4 A Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
5 Dabrafenib and Trametinib in Treating Patients With Erdheim Chester Disease With BRAF V600 Mutations Not yet recruiting NCT03794297 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
6 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
7 Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
8 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
9 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
10 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
11 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
12 Biomarker for Farber Disease Recruiting NCT02298634
13 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
14 Farber Disease Natural History Study Recruiting NCT03233841
15 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Lipogranulomatosis

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Genetic Tests for Lipogranulomatosis

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Anatomical Context for Lipogranulomatosis

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MalaCards organs/tissues related to Lipogranulomatosis:

41
Bone, Lung, Brain, Liver, Skin, Breast, Lymph Node
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Publications for Lipogranulomatosis

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Articles related to Lipogranulomatosis:

(show top 50) (show all 608)
# Title Authors Year
1
A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge. ( 29888013 )
2018
2
Neuroradiologic manifestations of Erdheim-Chester disease. ( 29517068 )
2018
3
The Hairy Kidney of Erdheim-Chester Disease. ( 29728208 )
2018
4
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF<sup>V600E</sup> mutation. ( 29736852 )
2018
5
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
6
The fibrogenic chemokine CCL18 is associated with disease severity in Erdheim-Chester disease. ( 29900045 )
2018
7
Efficacy of infliximab in the treatment of Erdheim-Chester disease. ( 29363511 )
2018
8
Prognostic factors of Erdheim-Chester Disease: A nationwide survey in Japan. ( 29976744 )
2018
9
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF<sup>V600E</sup> mutation. ( 29556768 )
2018
10
FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen. ( 29485431 )
2018
11
Treating Heart Inflammation With Interleukin-1 Blockade in a Case of Erdheim-Chester Disease. ( 29910817 )
2018
12
Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. ( 29396850 )
2018
13
Erdheim-chester disease: Case report with testes involvement and review of literature. ( 29686965 )
2018
14
Detection of anti-neutrophil cytoplasmic and antinuclear autoantibodies favouring misdiagnoses in 5 cases of Erdheim-Chester disease. ( 29652657 )
2018
15
Hypoalphalipoproteinemia and <i>BRAF</i><sup>V600E</sup> Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease. ( 29930009 )
2018
16
Significant response to dabrafenib in a patient with Erdheim-Chester disease with BRAFV600E mutation. ( 29968698 )
2018
17
Erdheim-Chester Disease and Palatal Tremor. ( 29145922 )
2018
18
Cutaneous manifestations of paediatric Erdheim-Chester disease, a histiocytosis of the 'L' group. ( 29357606 )
2018
19
An autopsy case report: Differences in radiological images correlate with histology in Erdheim-Chester disease. ( 29603831 )
2018
20
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. ( 29204962 )
2018
21
Erdheim-Chester disease: description of two illustrative cases involving the lung. ( 29469219 )
2018
22
Juvenile xanthogranuloma: A herald to the diagnosis of Erdheim-Chester disease in an adult with acute leukemia. ( 30117175 )
2018
23
Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature. ( 30474563 )
2018
24
Central Diabetes Insipidus as an Early Presentation of Erdheim-Chester Disease. ( 30221876 )
2018
25
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease. ( 30337283 )
2018
26
Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement. ( 29854671 )
2018
27
Erdheim-Chester disease with isolated neurological involvement. ( 29991848 )
2018
28
Erdheim-Chester disease diagnosed by 99mTc-MDP bone scintigraphy and brief literature review. ( 30006650 )
2018
29
Imaging findings in Erdheim-Chester disease: what every radiologist needs to know. ( 30038679 )
2018
30
Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib. ( 30094395 )
2018
31
FDA Approval Summary: Vemurafenib for the Treatment of Patients with Erdheim-Chester Disease with the BRAFV600 Mutation. ( 30120160 )
2018
32
Superior efficacy and similar safety of double dose anakinra in Erdheim-Chester disease after single dose treatment. ( 30221042 )
2018
33
Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement. ( 30225465 )
2018
34
Dramatic efficacy of dabrafenib in Erdheim-Chester disease (ECD): a pediatric patient with multiple large intracranial ECD lesions hidden by refractory Langerhans cell histiocytosis. ( 30265230 )
2018
35
A case of Erdheim-Chester disease with spinal cord compression and sphenoid sinus involvement. ( 30274919 )
2018
36
Cladribine treatment for Erdheim-Chester disease involving the central nervous system and concomitant polycythemia vera: A case report. ( 30305475 )
2018
37
3D culture of Erdheim-Chester disease tissues unveils histiocyte metabolism as a new therapeutic target. ( 30487147 )
2018
38
Image Gallery: Cutaneous lesions of Erdheim-Chester disease treated with carbon dioxide laser therapy. ( 30508238 )
2018
39
Successful Treatment of Erdheim-Chester Disease With Coronary Artery Involvement. ( 30527170 )
2018
40
Corneal involvement due to Erdheim-Chester disease. ( 30528948 )
2018
41
Arterial involvement in Erdheim-Chester disease: A retrospective cohort study. ( 30544428 )
2018
42
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease. ( 30154360 )
2018
43
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report. ( 29281781 )
2017
44
Clinical and radiological responses to oral methotrexate alone or in combination with other agents in Erdheim-Chester disease. ( 29242623 )
2017
45
Erdheim-Chester Disease: The Importance of Information Integration. ( 28868020 )
2017
46
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
47
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2017
48
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
49
Erdheim-Chester disease presenting as bradycardia in an elderly man. ( 28620105 )
2017
50
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. ( 29192649 )
2017
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Variations for Lipogranulomatosis

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Expression for Lipogranulomatosis

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Search GEO for disease gene expression data for Lipogranulomatosis.
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Pathways for Lipogranulomatosis

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Pathways related to Lipogranulomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Sphingolipid metabolism 1 66 37
Show member pathways
 11.72 ASAH1 ASAH2
2
G-protein signaling N-RAS regulation pathway 22
Show member pathways
 11.22 ASAH1 ASAH2
3
S-1P Stimulated Signaling 64
11.14 ASAH1 ASAH2
4
Sphingolipid signaling pathway 37
11.03 ASAH1 ASAH2
5
sphingosine and sphingosine-1-phosphate metabolism 1
9.58 ASAH1 ASAH2
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GO Terms for Lipogranulomatosis

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Biological processes related to Lipogranulomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 8.96 ASAH1 ASAH2
2 ceramide metabolic process GO:0006672 8.62 ASAH1 ASAH2

Molecular functions related to Lipogranulomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 N-acylsphingosine amidohydrolase activity GO:0017040 8.96 ASAH1 ASAH2
2 ceramidase activity GO:0102121 8.62 ASAH1 ASAH2
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Sources for Lipogranulomatosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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