Aliases & Classifications for Lipogranulomatosis

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Aliases & Descriptions for Lipogranulomatosis:

Name: Lipogranulomatosis 45 47
Erdheim-Chester Disease 65
 
Lipogranuloma 65

Classifications:



External Ids:

UMLS65 C1704214

Summaries for Lipogranulomatosis

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MalaCards based summary: Lipogranulomatosis, also known as erdheim-chester disease, is related to farber lipogranulomatosis and arthritis, and has symptoms including incision site hyperaesthesia, injection related reaction and post-tussive vomiting. An important gene associated with Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1), and among its related pathways are Sphingolipid metabolism and Sphingolipid signaling pathway. Affiliated tissues include bone, heart and breast.

Related Diseases for Lipogranulomatosis

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1farber lipogranulomatosis12.5
2arthritis9.8
3atherosclerosis9.8
4hepatitis9.8
5skin disease9.8
6lymphoma9.8
7obstructive jaundice9.8
8sclerosing cholangitis9.8
9panniculitis9.8
10facial dermatosis9.8
11lipid metabolism disorder9.8
12hypersplenism9.8
13cholangitis9.8
14spinal muscular atrophy with progressive myoclonic epilepsy9.5ASAH1, ASAH2
15lipoic acid biosynthesis defects9.3ASAH1, ASAH2

Graphical network of diseases related to Lipogranulomatosis:



Diseases related to lipogranulomatosis

Symptoms for Lipogranulomatosis

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UMLS symptoms related to Lipogranulomatosis:


incision site hyperaesthesia, injection related reaction, post-tussive vomiting, incision site erythema, procedural pain, vestibulitis, infusion related reaction, polydipsia

Drugs & Therapeutics for Lipogranulomatosis

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Drugs for Lipogranulomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TrametinibapprovedPhase 2111871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
2
Dimethyl sulfoxideapprovedPhase 22967-68-5679
Synonyms:
(CH3)2SO
(methylsulfinyl)methane
DMSO
Dimethyl sulfoxide
Dimethyl sulfoxixde
Dimethyl sulfur oxide
Dimethyl sulphoxide
 
Dimethyl sulpoxide
Dimethyli sulfoxidum
Dimethylsulfoxid
Dimethylsulfoxyde
Dimetil sulfoxido
Methylsulfinylmethane
Rimso-50
S(O)Me2
Sulfinylbis(methane)
3
LenalidomideapprovedPhase 2674191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
4
DabrafenibapprovedPhase 27044462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
Dabrafenib Mesylate
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
5Anti-Infective AgentsPhase 217220
6Immunologic FactorsPhase 218483
7Immunosuppressive AgentsPhase 210422
8Anti-Bacterial AgentsPhase 29140
9Angiogenesis InhibitorsPhase 23688
10MitogensPhase 21386
11Protective AgentsPhase 25651
12Protein Kinase InhibitorsPhase 23162
13Angiogenesis Modulating AgentsPhase 23611
14AntioxidantsPhase 22442
15
Cholineapproved, nutraceutical13062-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester DiseaseRecruitingNCT02281760Phase 2
2A Study of Lenalidomide for Adult Histiocyte DisordersRecruitingNCT02523040Phase 2
3Pilot Study of Tocilizumab in Patients With Erdheim-Chester DiseaseTerminatedNCT01727206Phase 2
4Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester DiseaseRecruitingNCT02089724
5Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
6Biomarker for Farber DiseaseRecruitingNCT02298634
7International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582
8Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy MeasurementRecruitingNCT02608619

Search NIH Clinical Center for Lipogranulomatosis

Genetic Tests for Lipogranulomatosis

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Anatomical Context for Lipogranulomatosis

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MalaCards organs/tissues related to Lipogranulomatosis:

33
Bone, Heart, Breast, Bone marrow, Testes, Colon, Lung

Animal Models for Lipogranulomatosis or affiliated genes

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Publications for Lipogranulomatosis

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Articles related to Lipogranulomatosis:

(show top 50)    (show all 54)
idTitleAuthorsYear
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
Disseminated lipogranulomatosis. (19242039)
2009
7
Diffuse lipogranulomatosis involving soft tissues of the head and neck due to multiple self-injections of mineral oil. (18617587)
2008
8
Surreptitious injection of mineral oil: a case report of sclerosing lipogranulomatosis. (18948786)
2008
9
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. (16951918)
2006
10
Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. (9645089)
1998
11
A case of Farber lipogranulomatosis. (9539328)
1998
12
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. (8892023)
1996
13
Clofazimine in inflammatory facial dermatosis--granuloma faciale and lipogranulomatosis subcutanea (Rothmann-Makai) (8721503)
1996
14
Farber's lipogranulomatosis]. (8577050)
1995
15
The anesthetic implications of a patient with Farber's lipogranulomatosis. (8291711)
1994
16
Sclerosing lipogranulomatosis: a case report of scrotal injection of automobile transmission fluid and literature review of subcutaneous injection of oils. (8430154)
1993
17
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement. (1557987)
1992
18
Farber's lipogranulomatosis in siblings: light and electron microscopic studies. (2514784)
1989
19
Farber's lipogranulomatosis. (3327826)
1987
20
Farber lipogranulomatosis: an unusual presentation in a black child. (2854742)
1986
21
Pulmonary lipogranulomatosis due to excessive consumption of apples. (3757573)
1986
22
Hepatic lipogranulomatosis simulating veno-occlusive disease of the liver. (3838237)
1985
23
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. (3987715)
1985
24
"Banana bodies" in disseminated lipogranulomatosis (Farber's disease). (6414327)
1983
25
Idiopathic lipogranulomatosis of spleen and periaortic lymph nodes with noncaseating granulomas of liver. (7173854)
1982
26
Lipogranulomatosis circumscripta (panniculitis non suppurativa). (7147697)
1982
27
Lipogranulomatosis of the genitalia caused by topical application of "baby oil". (7351706)
1980
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
Farber's disease (disseminated lipogranulomatosis)--a pathological, histochemical and ultrastructural study--. (219658)
1979
31
A specific ultrastructural marker for disseminated lipogranulomatosis (Faber). (230790)
1979
32
Familial lipogranulomatosis (Farber's disease). (1277575)
1976
33
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (932904)
1976
34
Lipogranulomatosis of the mesentery. (948565)
1976
35
Lipogranulomatosis of external genitalia. (4594721)
1974
36
Lipogranulomatosis subcutanea of Rothman-Makai. (4664563)
1972
37
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. (5109101)
1971
38
Sclerosing lipogranulomatosis. (5569331)
1971
39
Farber's disease (lipogranulomatosis). (5171854)
1971
40
Fatal lipogranulomatosis with atrial pseudotumour, intrahepatic sclerosing cholangitis and lymphoreticular proliferation simulating malignant lymphoma. (5477029)
1970
41
Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. (5395479)
1969
42
Retinopathy in a case of Farber's lipogranulomatosis. (5936802)
1966
43
LIPOGRANULOMATOSIS SUBCUTANEA (ROTHMANN-MAKAI); AN APPRAISAL. (14170601)
1964
44
DISSEMINATED LIPOGRANULOMATOSIS: EARLY ROENTGENOGRAPHIC CHANGES. (14131673)
1964
45
Disseminated lipogranulomatosis: report of a case. (14443810)
1960
46
Disseminated lipogranulomatosis (Farber's disease). (13582627)
1958
47
Lipogranulomatosis; a new lipo-glycoprotein storage disease. (13481627)
1957
48
Sex differences in incidence and severity of lymph node lipogranulomatosis; a similarity to atherosclerosis. (13434569)
1957
49
Intestinal lipogranulomatosis (Whipple's disease). (14398057)
1954
50
A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-SchA1ller-Christian disease. (12975849)
1952

Variations for Lipogranulomatosis

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Expression for genes affiliated with Lipogranulomatosis

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Search GEO for disease gene expression data for Lipogranulomatosis.

Pathways for genes affiliated with Lipogranulomatosis

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Pathways related to Lipogranulomatosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ASAH1, ASAH2
29.1ASAH1, ASAH2
39.1ASAH1, ASAH2
49.1ASAH1, ASAH2

GO Terms for genes affiliated with Lipogranulomatosis

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Sources for Lipogranulomatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet