MCID: LPG001
MIFTS: 25

Lipogranulomatosis malady

Category: Rare diseases

Aliases & Classifications for Lipogranulomatosis

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Aliases & Descriptions for Lipogranulomatosis:

Name: Lipogranulomatosis 47 49
Erdheim-Chester Disease 67
 
Lipogranuloma 67

Classifications:



Summaries for Lipogranulomatosis

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MalaCards based summary: Lipogranulomatosis, is also known as erdheim-chester disease, and has symptoms including polydipsia, infusion related reaction and vestibulitis. An important gene associated with Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways are Sphingolipid metabolism and S-1P Stimulated Signaling. Affiliated tissues include lymph node, liver and breast.

Related Diseases for Lipogranulomatosis

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Symptoms for Lipogranulomatosis

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UMLS symptoms related to Lipogranulomatosis:


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

Drugs & Therapeutics for Lipogranulomatosis

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TrametinibapprovedPhase 2121871700-17-311707110
Synonyms:
GSK 1120212
GSK1120212
JTP 74057
JTP-74057
 
MEK Inhibitor GSK1120212
Mekinist
Trametinib Dimethyl Sulfoxide
Trametinibum
trametinib
2
Dimethyl sulfoxideapproved, vet_approvedPhase 23367-68-5679
Synonyms:
(CH3)2SO
(methylsulfinyl)methane
DMSO
Dimethyl sulfoxide
Dimethyl sulfoxixde
Dimethyl sulfur oxide
Dimethyl sulphoxide
 
Dimethyl sulpoxide
Dimethyli sulfoxidum
Dimethylsulfoxid
Dimethylsulfoxyde
Dimetil sulfoxido
Methylsulfinylmethane
S(O)Me2
Sulfinylbis(methane)
3
LenalidomideapprovedPhase 2718191732-72-6216326
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 27944462760, 44516822
Synonyms:
BRAF inhibitor GSK2118436
Dabrafenib
 
GSK2118436
GSK2118436a
Tafinlar
dabrafenib
5AntioxidantsPhase 22928
6Anti-Infective AgentsPhase 221402
7Immunosuppressive AgentsPhase 212770
8Angiogenesis Modulating AgentsPhase 24072
9Anti-Bacterial AgentsPhase 210884
10Angiogenesis InhibitorsPhase 24143
11Protective AgentsPhase 27190
12MitogensPhase 21526
13Protein Kinase InhibitorsPhase 23612
14
Cholineapproved, nutraceutical14862-49-7305
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
15Nootropic Agents701
16Lipid Regulating Agents2702
17Antimetabolites11774
18Gastrointestinal Agents8109
19Hypolipidemic Agents2721

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
7Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy MeasurementRecruitingNCT02608619
8International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

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:

35
Lymph node, Liver, Breast, Skin, Spleen, Bone, Bone marrow

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
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
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. (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
Banana bodies" in disseminated lipogranulomatosis (Farber's disease). (6414327)
1983
24
Idiopathic lipogranulomatosis of spleen and periaortic lymph nodes with noncaseating granulomas of liver. (7173854)
1982
25
Lipogranulomatosis circumscripta (panniculitis non suppurativa). (7147697)
1982
26
Lipogranulomatosis of the genitalia caused by topical application of "baby oil". (7351706)
1980
27
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease). (7246981)
1980
28
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. (7441940)
1980
29
Farber's disease (disseminated lipogranulomatosis)--a pathological, histochemical and ultrastructural study--. (219658)
1979
30
A specific ultrastructural marker for disseminated lipogranulomatosis (Faber). (230790)
1979
31
Lipogranulomatosis of the mesentery. (948565)
1976
32
Familial lipogranulomatosis (Farber's disease). (1277575)
1976
33
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (932904)
1976
34
Lipogranulomatosis of external genitalia. (4594721)
1974
35
Lipogranulomatosis subcutanea of Rothman-Makai. (4664563)
1972
36
Farber's disease (lipogranulomatosis). (5171854)
1971
37
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. (5109101)
1971
38
Sclerosing lipogranulomatosis. (5569331)
1971
39
Fatal lipogranulomatosis with atrial pseudotumour, intrahepatic sclerosing cholangitis and lymphoreticular proliferation simulating malignant lymphoma. (5477029)
1970
40
Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. (5395479)
1969
41
Biochemical and histochemical studies of a case of Farber's lipogranulomatosis. (5656562)
1968
42
Sclerosing lipogranulomatosis: its several abdominal syndromes. (6026707)
1967
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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GO Terms for genes affiliated with Lipogranulomatosis

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

idNameGO IDScoreTop Affiliating Genes
1ceramide metabolic processGO:00066729.1ASAH1, ASAH2

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

idNameGO IDScoreTop Affiliating Genes
1ceramidase activityGO:00170409.1ASAH1, ASAH2

Sources for Lipogranulomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet