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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 20 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 Dimethyl sulfoxide and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone marrow and testis.

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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 29)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 32.3 ASAH2 ASAH1
2 asah1-related disorders 10.3
3 panniculitis 10.1
4 juvenile rheumatoid arthritis 10.1
5 atherosclerosis susceptibility 9.8
6 glycoprotein storage disease 9.8
7 mental retardation, skeletal dysplasia, and abducens palsy 9.8
8 hepatic veno-occlusive disease 9.8
9 microcytic anemia 9.8
10 obstructive jaundice 9.8
11 sclerosing cholangitis 9.8
12 granulomatous hepatitis 9.8
13 acute pancreatitis 9.8
14 facial dermatosis 9.8
15 skin disease 9.8
16 pancreatitis 9.8
17 hypersplenism 9.8
18 intermediate coronary syndrome 9.8
19 cholangitis 9.8
20 pathologic nystagmus 9.8
21 hypereosinophilic syndrome 9.8
22 pityriasis lichenoides 9.8
23 pityriasis lichenoides et varioliformis acuta 9.8
24 spinal muscular atrophy with progressive myoclonic epilepsy 9.7 ASAH2 ASAH1
25 aggressive systemic mastocytosis 9.7 ASAH2 ASAH1
26 sphingolipidosis 9.7 ASAH2 ASAH1
27 intracranial berry aneurysm 9.6 ASAH2 ASAH1
28 niemann-pick disease 9.6 ASAH2 ASAH1
29 gaucher's disease 9.5 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 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
2
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Lenalidomide Approved Phase 2 191732-72-6 216326
5 Protective Agents Phase 2
6 Antioxidants Phase 2
7 Protein Kinase Inhibitors Phase 2
8 Angiogenesis Inhibitors Phase 2
9 Immunologic Factors Phase 2
10
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
11
Bevacizumab Approved, Investigational Phase 1 216974-75-3
12
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030
14
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
15
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
16 Mitogens Phase 1
17 Antifungal Agents Phase 1
18 Antineoplastic Agents, Immunological Phase 1
19 Anticonvulsants Phase 1
20 Immunoglobulin G Phase 1
21 Neurotransmitter Agents Phase 1
22 Immunosuppressive Agents Phase 1
23 Antibiotics, Antitubercular Phase 1
24 Immunoglobulins Phase 1
25 Anti-Infective Agents Phase 1
26 Psychotropic Drugs Phase 1
27 Antibodies Phase 1
28 Anti-Bacterial Agents Phase 1
29 Endothelial Growth Factors Phase 1
30 Immunoglobulins, Intravenous Phase 1
31 Antibodies, Monoclonal Phase 1
32
Vemurafenib Approved 918504-65-1 23252090 42611257
33
Choline Approved, Nutraceutical 62-49-7 305
34 Gastrointestinal Agents
35 Lipid Regulating Agents
36 Hypolipidemic Agents
37 Antimetabolites

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 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
2 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 Mesylate;Trametinib Dimethyl Sulfoxide
3 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
4 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
5 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
6 Open-label, Single-arm, Phase II, Prospective, Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
7 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
8 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Unknown status NCT02089724
9 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Completed NCT03233841
10 Pilot Study to Determine Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
11 Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease Completed NCT01417520
12 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
13 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
14 A Study to Identify the Supportive Care Needs of Caregivers of Patients With Erdheim-Chester Disease and Other Histiocytic Diseases Recruiting NCT03990428
15 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
16 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
Endothelial, Bone Marrow, Testis, Liver, Cervix, Eye, Lymph Node
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Publications for Lipogranulomatosis

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Articles related to Lipogranulomatosis:

(show top 50) (show all 364)
# 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. 61 54
17264167 2007
3
[Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. 61 54
9645089 1998
4
Panniculitis in a patient with metastatic renal cell carcinoma on a tyrosine kinase inhibitor. 61
33290313 2020
5
An uncommon lymphoma mimic: lipogranulomas. 61
32524166 2020
6
Cerebral lipogranuloma: A penetrating traumatic brain injury. 61
33055273 2020
7
[Penile paraffinoma-Treatment strategies]. 61
32930825 2020
8
Periorbital lipogranuloma after facial injection of autologous fat: A retrospective study of 18 cases. 61
32613849 2020
9
Retroperitoneal Sclerosing Lipogranuloma in an Adolescent With Congenital Atresia of the Inferior Vena Cava: Case Report and Literature Review. 61
32516200 2020
10
Facial Sclerosing Lipogranuloma After Self-Injection of Homemade Tissue Filler: An Alarming New Practice. 61
30908364 2020
11
Periocular Lipogranuloma After Cryopreserved Fat Injection Into the Forehead. 61
30882505 2019
12
Serious complication as a result of lip augmentation with vitamin E. 61
30924223 2019
13
Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy. 61
31772410 2019
14
Retroperitoneal lipogranuloma mimicking recurrence of renal cell carcinoma after laparoscopic partial nephrectomy. 61
31236327 2019
15
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 61
31022067 2019
16
Sclerosing lipogranulomatosis-induced chronic hypercalcemia and acute pancreatitis. 61
31312708 2019
17
Amelioration of regulatory T cells by Lactobacillus delbrueckii and Lactobacillus rhamnosus in pristane-induced lupus mice model. 61
30370554 2019
18
Role of Lgals9 Deficiency in Attenuating Nephritis and Arthritis in BALB/c Mice in a Pristane-Induced Lupus Model. 61
29481735 2018
19
Ophthalmologic Complications Associated With Oculofacial Plastic and Esthetic Surgeries. 61
29554075 2018
20
No pain no gain: tender nodules in a competitive bodybuilder. 61
30261570 2018
21
Sclerosing lipogranuloma presenting as movable masses induced by large doses of progesterone injection. 61
29239023 2018
22
In vivo study: Th1-Th17 reduction in pristane-induced systemic lupus erythematosus mice after treatment with tolerogenic Lactobacillus probiotics. 61
30078223 2018
23
Paraffin Granuloma Associated with Buried Glans Penis-Induced Sexual and Voiding Dysfunction. 61
28868821 2017
24
Lipogranuloma after facial cosmetic procedures. 61
28117206 2017
25
Idiopathic orbital lipogranuloma. 61
28393047 2017
26
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. 61
27155573 2016
27
Subcutaneous Oleomas Following Sunflower Oil Injection: A Novel Case and Review of Literature. 61
28331751 2016
28
Periorbital Lipogranuloma after Autologous Fat Injection for Forehead Augmentation. 61
27081275 2016
29
Sclerosing Lipogranuloma with Multiple Skin Lesions and Pulmonary Involvement, Secondary to a Factitious Disorder. 61
26315839 2016
30
Periorbital Lipogranuloma after Facial Autologous Fat Injection and Its Treatment Outcomes. 61
26865798 2016
31
Silicone-induced Penile Sclerosing Lipogranuloma: Magnetic Resonance Imaging Findings. 61
26958433 2016
32
Periorbital Lipogranuloma Following Facial Autologous Fat Injections: Non-surgical Treatment. 61
26306704 2015
33
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 61
26526000 2015
34
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
35
The molecular medicine of acid ceramidase. 61
25938220 2015
36
Extensive facial sclerosing lipogranulomatosis as a complication of cosmetic acupuncture. 61
25768878 2015
37
Sclerosing lipogranuloma of the eyelid: unusual complication following nasal packing in endoscopic sinus surgery. 61
25750223 2015
38
Complications of injected vitamin E as a filler for lip augmentation: case series and therapeutic approach. 61
25649466 2015
39
Primary adenomatoid tumor of the testis: report of a case and review of literature. 61
26191318 2015
40
Mesenteric lipogranuloma mimicking malignancy at ¹⁸F-FDG PET/CT in a patient with colon cancer. 61
24986550 2015
41
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. 61
24355074 2014
42
Treatment of paraffin-induced lipogranuloma of the penis by bipedicled scrotal flap with Y-V incision. 61
24322635 2014
43
[Case of primary scrotal sclerosing lipogranuloma : review of 227 cases reported in Japan]. 61
25511949 2014
44
Coelomic Granulomatous Fat Necrosis (Lipogranulomatosis) in an Umbrella Cockatoo (Cacatua alba). 61
25843325 2014
45
A woman with a nose like an "Elephant's Trunk". 61
24245997 2014
46
Exenatide-induced eosinophilic sclerosing lipogranuloma at the injection site. 61
24366197 2014
47
Periorbital lipogranuloma related to filler migration: a rare complication of facial fillers. 61
24131096 2014
48
Delayed lipogranuloma of the cheek following autologous fat injection: report of 2 cases. 61
25337297 2014
49
A giant primary sclerosing lipogranuloma of the scrotum. 61
24448708 2014
50
Periorbital lipogranuloma after cryopreserved autologous fat injection at forehead: unexpected complication of a popular cosmetic procedure. 61
24314435 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 65 36 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
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
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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