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 bipolar disorder. 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, bone marrow and lung.

Related Diseases for Lipogranulomatosis

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Graphical network of the top 20 diseases related to Lipogranulomatosis:



Diseases related to lipogranulomatosis

Symptoms 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 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, Bone marrow, Lung, Heart, Colon, Prostate, Testes

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
Refractive error in school children in Campinas, Brazil. (25295913)
2014
2
Functional and structural characterization of the kinase insert and the carboxy terminal domain in VEGF receptor 2 activation. (25114179)
2014
3
Long non-coding RNA HOTAIR is associated with human cervical cancer progression. (25405331)
2014
4
Overexpression of CDC28 protein kinase regulatory subunit 1B confers an independent prognostic factor in nasopharyngeal carcinoma. (23879533)
2014
5
Direct-acting antiviral agents for hepatitis C virus infection. (23140245)
2013
6
Primary hyperparathyroidism mimicking hyperemesis gravidarum. (23386989)
2013
7
Sexual and reproductive health and HIV services: integrating HIV/AIDS and cervical cancer prevention and control. (23477703)
2013
8
Modulating roles of amiloride in irradiation-induced antiproliferative effects in glioblastoma multiforme cells involving Akt phosphorylation and the alternative splicing of apoptotic genes. (23822711)
2013
9
Description of the new allele HLA-DQB1*04:03:02. (22017792)
2012
10
Isoimmune neonatal neutropenia in a North African newborn due to anti-FcI^ RIIIb. (22221225)
2012
11
Measuring working memory deficits in aphasia. (22771135)
2012
12
Syringomyelia due to thoracic spinal stenosis with ossified ligamentum flavum--case report. (21358164)
2011
13
Circulating CD133+CD34+ progenitor cells inversely correlate with soluble ICAM-1 in early ischemic stroke patients. (21871109)
2011
14
Maternal and prenatal risk factors for childhood leukemia in southern of iran. (22737501)
2011
15
Enhanced cytokine responses to Toll-like and NOD-like receptor ligands in primary biliary cirrhosis-CREST overlap syndrome. (20385616)
2010
16
Linkage of angiotensinogen gene polymorphisms with hypertension in a sibling study of Hong Kong Chinese. (20216084)
2010
17
Sturge-Weber syndrome: soft-tissue and skeletal overgrowth. (19182685)
2009
18
Human CD14+ macrophages in intestinal lamina propria exhibit potent antigen-presenting ability. (19592647)
2009
19
Experience with transverse preputial island flap for repair of hypospadias in Ile-Ife, Nigeria. (19661665)
2009
20
Detection of HPV DNA and immunohistochemical expression of cell cycle proteins in oral carcinoma in a population of Brazilian patients. (19089231)
2008
21
Chronic intestinal pseudo-obstruction caused by an intestinal inflammatory myopathy: case report and review of the literature. (18004985)
2008
22
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. (18414512)
2008
23
Prognostic value of N-terminal pro-type-B natriuretic peptide and Doppler left ventricular diastolic variables in patients with chronic systolic heart failure stabilized by therapy. (18678307)
2008
24
Nonarteritic anterior ischemic optic neuropathy after uneventful phacoemulsification: case report. (17768569)
2007
25
Dietary isoflavones act on bone marrow osteoprogenitor cells and stimulate ovary development before influencing bone mass in pre-pubertal piglets. (17348029)
2007
26
Specific role of mitochondrial electron transport in blood-stage Plasmodium falciparum. (17330044)
2007
27
p53 is required for etoposide-induced apoptosis of human embryonic stem cells. (19383392)
2007
28
Hyperexpression of inducible costimulator on lamina propria mononuclear cells in rat dextran sulfate sodium colitis. (14731127)
2004
29
Antiphospholipid and glutamic acid decarboxylase antibodies in patients with focal epilepsy. (14872052)
2004
30
Microgeographic variation of HLA-A, -B, and -DR haplotype frequencies in Tuscany, Italy: implications for recruitment of bone marrow donors. (15361126)
2004
31
Targeting c-Mpl for revival of human immunodeficiency virus type 1-induced hematopoietic inhibition when CD34+ progenitor cells are re-engrafted into a fresh stromal microenvironment in vivo. (15452260)
2004
32
The 5q- syndrome. (15621734)
2004
33
Mesalazine causes a mitotic arrest and induces caspase-dependent apoptosis in colon carcinoma cells. (12663503)
2003
34
A variant of congenital muscular dystrophy. (11751021)
2002
35
Can interleukin-10 be used as a true immunoregulatory cytokine? (10903794)
2000
36
Idiopathic cranio-osteoarthropathy. (10869149)
2000
37
Neurohypophyseal pilocytic astrocytoma invading the skull base. (10715737)
1999
38
Treatment of renal anemia with erythropoietin]. (10645031)
1999
39
Influence of personality on behavioral response to cholecystokinin-tetrapeptide in patients with panic disorder. (8771610)
1996
40
Presence of human papillomavirus DNA and abnormal p53 protein accumulation in lung carcinoma. (8984698)
1996
41
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors. (9039330)
1996
42
Percutaneous transcatheter repair of a coronary aneurysm using a composite autologous cephalic vein-coated Palmaz-Schatz biliary stent. (7484850)
1995
43
Production in Escherichia coli, purification and immunogenicity of acrosomal protein SP-10, a candidate contraceptive vaccine. (7926798)
1994
44
An unusual case of ileocecal carcinoma presenting with steatorrhea. (2816887)
1989
45
The critical period of Purkinje cell degeneration and cerebellar hypoplasia due to bilirubin. (3434214)
1987
46
An evaluation in general practice of the use of dip-slide urine cultures in combination with antimicrobial sensitivity testing in patients with symptoms of acute cystitis treated with pivmecillinam. (6309205)
1983
47
Lactose intolerance in North and South Indians. (7234720)
1981
48
Paraquat lung injury in rabbits. (698141)
1978
49
Endothrix tinea capitis in Philadelphia. (852925)
1977
50
Recurrent aphthous stomatitis. (4863704)
1968

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