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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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External Ids:

UMLS 73 C1704214
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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 sclerosing cholangitis. An important gene associated with Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Sphingolipid metabolism and S-1P Stimulated Signaling. The drugs Cetuximab and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver.

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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 17)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 12.6
2 sclerosing cholangitis 9.8
3 panniculitis 9.8
4 facial dermatosis 9.8
5 lipid metabolism disorder 9.8
6 hypersplenism 9.8
7 lymphosarcoma 9.8
8 cholangitis 9.8
9 fetal edema 9.8
10 hydrops fetalis 9.8
11 glycoprotein storage disease 9.8
12 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
13 arthritis 9.8
14 hepatitis 9.8
15 skin disease 9.8
16 lymphoma 9.8
17 obstructive jaundice 9.8

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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Olaparib Approved Phase 2 763113-22-0 23725625
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
6
Lenalidomide Approved Phase 2 191732-72-6 216326
7
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
8
Trametinib Approved Phase 2 871700-17-3 11707110
9
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
10 Anti-Bacterial Agents Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
13 Immunosuppressive Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Antifungal Agents Phase 2
16 Angiogenesis Inhibitors Phase 2
17 Angiogenesis Modulating Agents Phase 2
18 Mitogens Phase 2
19 Antioxidants Phase 2
20 Protective Agents Phase 2
21 Protein Kinase Inhibitors Phase 2
22 tyrosine Nutraceutical Phase 2
23
Choline Approved, Nutraceutical 62-49-7 305
24 Gastrointestinal Agents
25 Nootropic Agents
26 Hypolipidemic Agents
27 Lipid Regulating Agents
28 Antimetabolites

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Cancers Completed NCT01524978 Phase 2 cetuximab;vemurafenib;vemurafenib
2 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;Vemurafenib
3 A Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
4 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
5 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
6 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
7 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
8 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
9 Biomarker for Farber Disease Recruiting NCT02298634
10 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
11 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Recruiting NCT02608619
12 Farber Disease Natural History Study Recruiting NCT03233841
13 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, Brain, Liver, Testes, Lung, Skin, Lymph Node
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Publications for Lipogranulomatosis

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Articles related to Lipogranulomatosis:

(show top 50) (show all 559)
# 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
Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement. ( 29854671 )
2018
23
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report. ( 29281781 )
2017
24
Clinical and radiological responses to oral methotrexate alone or in combination with other agents in Erdheim-Chester disease. ( 29242623 )
2017
25
Erdheim-Chester Disease: The Importance of Information Integration. ( 28868020 )
2017
26
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
27
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2017
28
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
29
Erdheim-Chester disease presenting as bradycardia in an elderly man. ( 28620105 )
2017
30
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. ( 29192649 )
2017
31
Case 245: Erdheim-Chester Disease. ( 28825890 )
2017
32
Erdheim-Chester Disease Presenting with Secondary Hypertension as a Result of Bilateral, Proximal Renal Artery Stenosis: A Case Report. ( 28612007 )
2017
33
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. ( 28455460 )
2017
34
A cytologic diagnosis of BRAF(V600E) Erdheim-Chester disease on pericardial fluid. ( 28222655 )
2017
35
Spinal epidural involvement in Erdheim-Chester disease: (18)F-FDG PET/CT findings. ( 28610870 )
2017
36
Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. ( 28099231 )
2017
37
Hematopoietic origin of Langerhans cell histiocytosis and Erdheim Chester disease in adults. ( 28512190 )
2017
38
18F-FDG PET/CT in Erdheim-Chester disease. ( 28364162 )
2017
39
An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease. ( 28739622 )
2017
40
Association between Ischemic Stroke and Erdheim-Chester Disease: A Case Report and Review of Literature. ( 28623120 )
2017
41
Complementary findings on (18)F-FDG PET/CT and (18)F-NaF PET/CT in a patient with Erdheim-Chester disease. ( 28670036 )
2017
42
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. ( 28080175 )
2017
43
A rare case of Erdheim-Chester disease in the breast. ( 28151461 )
2017
44
Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. ( 28182116 )
2017
45
The Imaging Findings of Erdheim-Chester Disease: A Multimodality Approach to Diagnosis and Staging. ( 28217025 )
2017
46
Erdheim-Chester Disease with atrial mass and perinephric calcification. ( 29225878 )
2017
47
Successful Lung Transplantation for Pulmonary Disease Associated With Erdheim-Chester Disease. ( 28633251 )
2017
48
Spontaneous Bilateral Pneumothoraces in Erdheim-Chester Disease. ( 29132763 )
2017
49
Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement. ( 28607780 )
2017
50
Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study. ( 29188284 )
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 66 37 1
Show member pathways
 11.66 ASAH1 ASAH2
2
S-1P Stimulated Signaling 64
11.13 ASAH1 ASAH2
3
Sphingolipid signaling pathway 37
11.03 ASAH1 ASAH2
4
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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