MCID: LPG001
MIFTS: 29

Lipogranulomatosis

Categories: Rare diseases

Aliases & Classifications for Lipogranulomatosis

MalaCards integrated aliases for Lipogranulomatosis:

Name: Lipogranulomatosis 49 51
Erdheim-Chester Disease 69
Lipogranuloma 69

Classifications:



External Ids:

UMLS 69 C1704214

Summaries for Lipogranulomatosis

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 S-1P Stimulated Signaling. The drugs Cetuximab and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and lymph node.

Related Diseases for Lipogranulomatosis

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 12.6
2 glycoprotein storage disease 9.8
3 arthritis 9.8
4 hepatitis 9.8
5 skin disease 9.8
6 lymphoma 9.8
7 obstructive jaundice 9.8
8 sclerosing cholangitis 9.8
9 panniculitis 9.8
10 facial dermatosis 9.8
11 lipid metabolism disorder 9.8
12 hypersplenism 9.8
13 cholangitis 9.8

Graphical network of the top 20 diseases related to Lipogranulomatosis:



Diseases related to Lipogranulomatosis

Symptoms & Phenotypes for Lipogranulomatosis

Drugs & Therapeutics for Lipogranulomatosis

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
Lenalidomide Approved Phase 2 191732-72-6 216326
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
6
Olaparib Approved Phase 2 763113-22-0 23725625
7
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
8
Trametinib Approved Phase 2 871700-17-3 11707110
9
Dabrafenib Approved, Investigational Phase 2 44462760 44516822
10 Angiogenesis Inhibitors Phase 2
11 Angiogenesis Modulating Agents Phase 2
12 Anti-Bacterial Agents Phase 2
13 Anti-Infective Agents Phase 2
14 Antifungal Agents Phase 2
15 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
16 Immunosuppressive Agents Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Mitogens Phase 2
19 Protective Agents Phase 2
20 Protein Kinase Inhibitors Phase 2
21 Antioxidants 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 Antimetabolites
28 Lipid Regulating Agents

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 A Study of Lenalidomide for Adult Histiocyte Disorders Recruiting NCT02523040 Phase 2 Lenalidomide
3 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
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 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

Genetic Tests for Lipogranulomatosis

Anatomical Context for Lipogranulomatosis

MalaCards organs/tissues related to Lipogranulomatosis:

38
Testes, Brain, Lymph Node, Liver, Bone, Skin, Breast

Publications for Lipogranulomatosis

Articles related to Lipogranulomatosis:

(show top 50) (show all 54)
# Title Authors Year
1
Extensive facial sclerosing lipogranulomatosis as a complication of cosmetic acupuncture. ( 25768878 )
2015
2
Coelomic Granulomatous Fat Necrosis (Lipogranulomatosis) in an Umbrella Cockatoo (Cacatua alba). ( 25843325 )
2014
3
Lipogranulomatosis and hypersplenism induced by ruptured silicone breast implants. ( 24228267 )
2013
4
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. ( 23385296 )
2013
5
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. ( 24355074 )
2013
6
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. ( 20609603 )
2011
7
Disseminated lipogranulomatosis. ( 19242039 )
2009
8
Diffuse lipogranulomatosis involving soft tissues of the head and neck due to multiple self-injections of mineral oil. ( 18617587 )
2008
9
Surreptitious injection of mineral oil: a case report of sclerosing lipogranulomatosis. ( 18948786 )
2008
10
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. ( 16951918 )
2006
11
[Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. ( 9645089 )
1998
12
A case of Farber lipogranulomatosis. ( 9539328 )
1998
13
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. ( 8892023 )
1996
14
Clofazimine in inflammatory facial dermatosis--granuloma faciale and lipogranulomatosis subcutanea (Rothmann-Makai) ( 8721503 )
1996
15
[Farber's lipogranulomatosis]. ( 8577050 )
1995
16
The anesthetic implications of a patient with Farber's lipogranulomatosis. ( 8291711 )
1994
17
Sclerosing lipogranulomatosis: a case report of scrotal injection of automobile transmission fluid and literature review of subcutaneous injection of oils. ( 8430154 )
1993
18
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement. ( 1557987 )
1992
19
Farber's lipogranulomatosis in siblings: light and electron microscopic studies. ( 2514784 )
1989
20
Farber's lipogranulomatosis. ( 3327826 )
1987
21
Farber lipogranulomatosis: an unusual presentation in a black child. ( 2854742 )
1986
22
Pulmonary lipogranulomatosis due to excessive consumption of apples. ( 3757573 )
1986
23
Hepatic lipogranulomatosis simulating veno-occlusive disease of the liver. ( 3838237 )
1985
24
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. ( 3987715 )
1985
25
"Banana bodies" in disseminated lipogranulomatosis (Farber's disease). ( 6414327 )
1983
26
Idiopathic lipogranulomatosis of spleen and periaortic lymph nodes with noncaseating granulomas of liver. ( 7173854 )
1982
27
Lipogranulomatosis circumscripta (panniculitis non suppurativa). ( 7147697 )
1982
28
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease). ( 7246981 )
1980
29
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. ( 7441940 )
1980
30
Lipogranulomatosis of the genitalia caused by topical application of "baby oil". ( 7351706 )
1980
31
A specific ultrastructural marker for disseminated lipogranulomatosis (Faber). ( 230790 )
1979
32
Farber's disease (disseminated lipogranulomatosis)--a pathological, histochemical and ultrastructural study--. ( 219658 )
1979
33
Familial lipogranulomatosis (Farber's disease). ( 1277575 )
1976
34
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. ( 932904 )
1976
35
Lipogranulomatosis of the mesentery. ( 948565 )
1976
36
Lipogranulomatosis of external genitalia. ( 4594721 )
1974
37
Ceramidase deficiency in Farber's disease (lipogranulomatosis). ( 4678225 )
1972
38
Lipogranulomatosis subcutanea of Rothman-Makai. ( 4664563 )
1972
39
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. ( 5109101 )
1971
40
Farber's disease (lipogranulomatosis). ( 5171854 )
1971
41
Sclerosing lipogranulomatosis. ( 5569331 )
1971
42
Fatal lipogranulomatosis with atrial pseudotumour, intrahepatic sclerosing cholangitis and lymphoreticular proliferation simulating malignant lymphoma. ( 5477029 )
1970
43
Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. ( 5395479 )
1969
44
Biochemical and histochemical studies of a case of Farber's lipogranulomatosis. ( 5656562 )
1968
45
Sclerosing lipogranulomatosis: its several abdominal syndromes. ( 6026707 )
1967
46
Retinopathy in a case of Farber's lipogranulomatosis. ( 5936802 )
1966
47
LIPOGRANULOMATOSIS SUBCUTANEA (ROTHMANN-MAKAI); AN APPRAISAL. ( 14170601 )
1964
48
DISSEMINATED LIPOGRANULOMATOSIS: EARLY ROENTGENOGRAPHIC CHANGES. ( 14131673 )
1964
49
Disseminated lipogranulomatosis: report of a case. ( 14443810 )
1960
50
Disseminated lipogranulomatosis (Farber's disease). ( 13582627 )
1958

Variations for Lipogranulomatosis

Expression for Lipogranulomatosis

Search GEO for disease gene expression data for Lipogranulomatosis.

Pathways for Lipogranulomatosis

Pathways related to Lipogranulomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 ASAH1 ASAH2
2 11.13 ASAH1 ASAH2
3 11.03 ASAH1 ASAH2
4 9.58 ASAH1 ASAH2

GO Terms for Lipogranulomatosis

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 ceramidase activity GO:0017040 8.62 ASAH1 ASAH2

Sources for Lipogranulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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