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MCID: LPG001
MIFTS: 29

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 52 54
Erdheim-Chester Disease 71
Lipogranuloma 71

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0878675 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 asah1-related disorders. 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 Diclofenac and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include breast, liver and bone.

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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 32)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 33.7 ASAH2 ASAH1
2 asah1-related disorders 10.6
3 panniculitis 10.3
4 juvenile rheumatoid arthritis 10.3
5 juvenile arthritis 10.2
6 atherosclerosis susceptibility 10.1
7 glycoprotein storage disease 10.1
8 hydrops fetalis, nonimmune 10.1
9 mental retardation, skeletal dysplasia, and abducens palsy 10.1
10 hepatic veno-occlusive disease 10.1
11 disseminated intravascular coagulation 10.1
12 microcytic anemia 10.1
13 obstructive jaundice 10.1
14 sclerosing cholangitis 10.1
15 granulomatous hepatitis 10.1
16 acute pancreatitis 10.1
17 facial dermatosis 10.1
18 skin disease 10.1
19 pancreatitis 10.1
20 hypersplenism 10.1
21 arthritis 10.1
22 crohn's disease 10.1
23 intermediate coronary syndrome 10.1
24 cholangitis 10.1
25 pathologic nystagmus 10.1
26 hypereosinophilic syndrome 10.1
27 pityriasis lichenoides 10.1
28 pityriasis lichenoides et varioliformis acuta 10.1
29 spinal muscular atrophy with progressive myoclonic epilepsy 9.5 ASAH2 ASAH1
30 aggressive systemic mastocytosis 9.5 ASAH2 ASAH1
31 sphingolipidosis 9.4 ASAH2 ASAH1
32 intracranial berry aneurysm 9.2 ASAH2 ASAH1

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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
2 Analgesics, Non-Narcotic Phase 3
3 Analgesics Phase 3
4 Cyclooxygenase Inhibitors Phase 3
5 Antirheumatic Agents Phase 3
6 Anti-Inflammatory Agents Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 3
8
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
9
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
10
Trametinib Approved Phase 2 871700-17-3 11707110
11
Lenalidomide Approved Phase 2 191732-72-6 216326
12 Mitogens Phase 2
13 Protein Kinase Inhibitors Phase 2
14 Antioxidants Phase 2
15 Protective Agents Phase 2
16 Immunologic Factors Phase 2
17 Angiogenesis Inhibitors Phase 2
18
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
19
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
20
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
21
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
22
Bevacizumab Approved, Investigational Phase 1 216974-75-3
23
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
24 Immunoglobulins Phase 1
25 Antibodies Phase 1
26 Endothelial Growth Factors Phase 1
27 Immunoglobulins, Intravenous Phase 1
28 Antibodies, Monoclonal Phase 1
29 Anti-Infective Agents Phase 1
30 Antifungal Agents Phase 1
31 Immunosuppressive Agents Phase 1
32 Anti-Bacterial Agents Phase 1
33 Psychotropic Drugs Phase 1
34 Anticonvulsants Phase 1
35 Antibiotics, Antitubercular Phase 1
36 Immunoglobulin G Phase 1
37 Neurotransmitter Agents Phase 1
38 Antineoplastic Agents, Immunological Phase 1
39
Vemurafenib Approved 918504-65-1 23252090 42611257
40
Choline Approved, Nutraceutical 62-49-7 305
41 Hypolipidemic Agents
42 Lipid Regulating Agents
43 Gastrointestinal Agents
44 Antimetabolites

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Tubal Flushing Using Water Soluble Media for Unexplained Infertility: A Randomized Controlled Trial Unknown status NCT02433418 Phase 3 Diclofenac
2 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
3 A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600 Mutation Positive Lesions in Erdheim Chester Disease Recruiting NCT03794297 Phase 2 Dabrafenib;Dabrafenib Mesylate;Trametinib;Trametinib Dimethyl Sulfoxide
4 A First-in-Human, Open Label, Phase I/II Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patients With Advanced Tumors Recruiting NCT04198818 Phase 1, Phase 2 HH2710
5 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
6 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
7 Open-label, Single-arm, Phase II, Prospective, Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
8 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
9 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Unknown status NCT02089724
10 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Completed NCT03233841
11 Pilot Study to Determine Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
12 Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease Completed NCT01417520
13 A Study to Identify the Supportive Care Needs of Caregivers of Patients With Erdheim-Chester Disease and Other Histiocytic Diseases Recruiting NCT03990428
14 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
15 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
16 A Prospective Cohort Study of Idiopathic Retroperitoneal Fibrosis in China Recruiting NCT04312854
17 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
18 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298634

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:

40
Breast, Liver, Bone, Skin, Endothelial, Bone Marrow, Lung
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Publications for Lipogranulomatosis

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Articles related to Lipogranulomatosis:

(show top 50) (show all 360)
# Title Authors PMID Year
1
Overexpression and mass spectrometry analysis of mature human acid ceramidase. 61 54
18020949 2007
2
Acid ceramidase is a novel factor required for early embryo survival. 54 61
17264167 2007
3
[Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. 61 54
9645089 1998
4
Retroperitoneal Sclerosing Lipogranuloma in an Adolescent With Congenital Atresia of the Inferior Vena Cava: Case Report and Literature Review. 61
32516200 2020
5
An uncommon lymphoma mimic: lipogranulomas. 61
32524166 2020
6
Facial Sclerosing Lipogranuloma After Self-Injection of Homemade Tissue Filler: An Alarming New Practice. 61
30908364 2020
7
Serious complication as a result of lip augmentation with vitamin E. 61
30924223 2019
8
Periocular Lipogranuloma After Cryopreserved Fat Injection Into the Forehead. 61
30882505 2019
9
Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy. 61
31772410 2019
10
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 61
31022067 2019
11
Retroperitoneal lipogranuloma mimicking recurrence of renal cell carcinoma after laparoscopic partial nephrectomy. 61
31236327 2019
12
Sclerosing lipogranulomatosis-induced chronic hypercalcemia and acute pancreatitis. 61
31312708 2019
13
Amelioration of regulatory T cells by Lactobacillus delbrueckii and Lactobacillus rhamnosus in pristane-induced lupus mice model. 61
30370554 2019
14
No pain no gain: tender nodules in a competitive bodybuilder. 61
30261570 2018
15
Ophthalmologic Complications Associated With Oculofacial Plastic and Esthetic Surgeries. 61
29554075 2018
16
Role of Lgals9 Deficiency in Attenuating Nephritis and Arthritis in BALB/c Mice in a Pristane-Induced Lupus Model. 61
29481735 2018
17
Sclerosing lipogranuloma presenting as movable masses induced by large doses of progesterone injection. 61
29239023 2018
18
In vivo study: Th1-Th17 reduction in pristane-induced systemic lupus erythematosus mice after treatment with tolerogenic Lactobacillus probiotics. 61
30078223 2018
19
Paraffin Granuloma Associated with Buried Glans Penis-Induced Sexual and Voiding Dysfunction. 61
28868821 2017
20
Lipogranuloma after facial cosmetic procedures. 61
28117206 2017
21
Idiopathic orbital lipogranuloma. 61
28393047 2017
22
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. 61
27155573 2016
23
Subcutaneous Oleomas Following Sunflower Oil Injection: A Novel Case and Review of Literature. 61
28331751 2016
24
Periorbital Lipogranuloma after Autologous Fat Injection for Forehead Augmentation. 61
27081275 2016
25
Sclerosing Lipogranuloma with Multiple Skin Lesions and Pulmonary Involvement, Secondary to a Factitious Disorder. 61
26315839 2016
26
Periorbital Lipogranuloma after Facial Autologous Fat Injection and Its Treatment Outcomes. 61
26865798 2016
27
Silicone-induced Penile Sclerosing Lipogranuloma: Magnetic Resonance Imaging Findings. 61
26958433 2016
28
Periorbital Lipogranuloma Following Facial Autologous Fat Injections: Non-surgical Treatment. 61
26306704 2015
29
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 61
26526000 2015
30
Clinical characteristics of patients with a periorbital mass after autologous fat injection for facial augmentation and short-term outcomes of steroid treatment. 61
26328476 2015
31
The molecular medicine of acid ceramidase. 61
25938220 2015
32
Extensive facial sclerosing lipogranulomatosis as a complication of cosmetic acupuncture. 61
25768878 2015
33
Complications of injected vitamin E as a filler for lip augmentation: case series and therapeutic approach. 61
25649466 2015
34
Sclerosing lipogranuloma of the eyelid: unusual complication following nasal packing in endoscopic sinus surgery. 61
25750223 2015
35
Primary adenomatoid tumor of the testis: report of a case and review of literature. 61
26191318 2015
36
Mesenteric lipogranuloma mimicking malignancy at ¹⁸F-FDG PET/CT in a patient with colon cancer. 61
24986550 2015
37
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. 61
24355074 2014
38
Treatment of paraffin-induced lipogranuloma of the penis by bipedicled scrotal flap with Y-V incision. 61
24322635 2014
39
[Case of primary scrotal sclerosing lipogranuloma : review of 227 cases reported in Japan]. 61
25511949 2014
40
Coelomic Granulomatous Fat Necrosis (Lipogranulomatosis) in an Umbrella Cockatoo (Cacatua alba). 61
25843325 2014
41
Exenatide-induced eosinophilic sclerosing lipogranuloma at the injection site. 61
24366197 2014
42
Periorbital lipogranuloma related to filler migration: a rare complication of facial fillers. 61
24131096 2014
43
A woman with a nose like an "Elephant's Trunk". 61
24245997 2014
44
Delayed lipogranuloma of the cheek following autologous fat injection: report of 2 cases. 61
25337297 2014
45
A giant primary sclerosing lipogranuloma of the scrotum. 61
24448708 2014
46
Periorbital lipogranuloma after cryopreserved autologous fat injection at forehead: unexpected complication of a popular cosmetic procedure. 61
24314435 2013
47
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. 61
23385296 2013
48
Lipogranulomatosis and hypersplenism induced by ruptured silicone breast implants. 61
24228267 2013
49
[Sonographic features and diagnostic analysis of breast granulomatous diseases: a report of 32 cases]. 61
24351602 2013
50
Comparative effects of different sclerosing agents used to treat rectal prolapse: an experimental study in rats. 61
23932615 2013
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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 36 65 1
Show member pathways
 11.66 ASAH2 ASAH1
2
S-1P Stimulated Signaling 63
11.14 ASAH2 ASAH1
3
Sphingolipid signaling pathway 36
11.03 ASAH2 ASAH1
4
sphingosine and sphingosine-1-phosphate metabolism 1
9.58 ASAH2 ASAH1
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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 9.32 ASAH2 ASAH1
2 sphingolipid metabolic process GO:0006665 9.26 ASAH2 ASAH1
3 ceramide biosynthetic process GO:0046513 9.16 ASAH2 ASAH1
4 sphingosine biosynthetic process GO:0046512 8.96 ASAH2 ASAH1
5 ceramide catabolic process GO:0046514 8.62 ASAH2 ASAH1

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 ASAH2 ASAH1
2 ceramidase activity GO:0102121 8.62 ASAH2 ASAH1
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Sources for Lipogranulomatosis

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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
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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