MCID: LPG001
MIFTS: 30

Lipogranulomatosis malady

Categories: Rare diseases

Aliases & Classifications for Lipogranulomatosis

Aliases & Descriptions for Lipogranulomatosis:

Name: Lipogranulomatosis 50 52
Erdheim-Chester Disease 69
Lipogranuloma 69

Classifications:



Summaries for Lipogranulomatosis

MalaCards based summary : Lipogranulomatosis, also known as erdheim-chester disease, is related to farber lipogranulomatosis and alpha-thalassemia/mental retardation syndrome, chromosome 16-related. An important gene associated with Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Lysosome and Sphingolipid signaling pathway. The drugs Lenalidomide and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, lymph node and bone.

Related Diseases for Lipogranulomatosis

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 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
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
Dabrafenib Approved Phase 2 44462760 44516822
7
Trametinib Approved Phase 2 871700-17-3 11707110
8
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
9 Angiogenesis Inhibitors Phase 2
10 Angiogenesis Modulating Agents Phase 2
11 Anti-Bacterial Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
15 Antifungal Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Mitogens Phase 2
18 Protective Agents Phase 2
19 Protein Kinase Inhibitors Phase 2
20 Antioxidants Phase 2
21
Choline Approved, Nutraceutical 62-49-7 305
22 Gastrointestinal Agents
23 Nootropic Agents
24 Hypolipidemic Agents
25 Lipid Regulating Agents
26 Antimetabolites

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Lenalidomide for Adult Histiocyte Disorders Recruiting NCT02523040 Phase 2
2 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Advanced Refractory Solid Tumors or Lymphomas Not yet recruiting NCT03155620 Phase 2
3 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2
4 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2
5 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
6 Clinical and Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520
7 Biomarker for Farber Disease Recruiting NCT02298634
8 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
9 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Recruiting NCT02608619
10 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:

39
Liver, Lymph Node, Bone, Skin, Bone Marrow, Breast, Spleen

Publications for Lipogranulomatosis

Articles related to Lipogranulomatosis:

(show top 50) (show all 54)
id 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
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. ( 23385296 )
2013
4
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. ( 24355074 )
2013
5
Lipogranulomatosis and hypersplenism induced by ruptured silicone breast implants. ( 24228267 )
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
Surreptitious injection of mineral oil: a case report of sclerosing lipogranulomatosis. ( 18948786 )
2008
9
Diffuse lipogranulomatosis involving soft tissues of the head and neck due to multiple self-injections of mineral oil. ( 18617587 )
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
Clofazimine in inflammatory facial dermatosis--granuloma faciale and lipogranulomatosis subcutanea (Rothmann-Makai) ( 8721503 )
1996
14
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. ( 8892023 )
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
Pulmonary lipogranulomatosis due to excessive consumption of apples. ( 3757573 )
1986
22
Farber lipogranulomatosis: an unusual presentation in a black child. ( 2854742 )
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
Lipogranulomatosis circumscripta (panniculitis non suppurativa). ( 7147697 )
1982
27
Idiopathic lipogranulomatosis of spleen and periaortic lymph nodes with noncaseating granulomas of liver. ( 7173854 )
1982
28
Lipogranulomatosis of the genitalia caused by topical application of "baby oil". ( 7351706 )
1980
29
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease). ( 7246981 )
1980
30
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. ( 7441940 )
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
Lipogranulomatosis subcutanea of Rothman-Makai. ( 4664563 )
1972
38
Ceramidase deficiency in Farber's disease (lipogranulomatosis). ( 4678225 )
1972
39
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. ( 5109101 )
1971
40
Sclerosing lipogranulomatosis. ( 5569331 )
1971
41
Farber's disease (lipogranulomatosis). ( 5171854 )
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:

id Super pathways Score Top Affiliating Genes
1 11.42 ASAH1 NAGA PSAP
2 11.33 ASAH1 ASAH2
3
Show member pathways
11.33 ACER3 ASAH1 ASAH2 PSAP
4 9.91 ASAH1 ASAH2

GO Terms for Lipogranulomatosis

Cellular components related to Lipogranulomatosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 ASAH1 PSAP
2 lysosome GO:0005764 8.8 ASAH1 NAGA PSAP

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 ASAH1 ASAH2 PSAP
2 glycosphingolipid metabolic process GO:0006687 9.16 ASAH1 PSAP
3 sphingolipid metabolic process GO:0006665 8.96 ASAH2 PSAP
4 ceramide metabolic process GO:0006672 8.8 ACER3 ASAH1 ASAH2

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.55 ACER3 ASAH1 ASAH2 CLCA4 NAGA
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 8.96 ACER3 ASAH1
3 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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