MCID: LPG001
MIFTS: 34

Lipogranulomatosis malady

Summaries for Lipogranulomatosis

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64Wikipedia, 33MalaCards
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Wikipedia:64 Farber disease (also known as Farber\'s lipogranulomatosis, ceramidase deficiency, \"Fibrocytic... more...

MalaCards: Lipogranulomatosis, also known as erdheim-chester disease, is related to farber lipogranulomatosis and niemann–pick disease. An important gene associated with Lipogranulomatosis is ASAH1 (N-acylsphingosine amidohydrolase (acid ceramidase) 1), and among its related pathways are Lysosome and sphingosine and sphingosine-1-phosphate metabolism. The compounds n-oleoylethanolamine and 4-methylumbelliferyl-beta-d-glucoside have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and spleen.

Aliases & Classifications for Lipogranulomatosis

Sources:
61UMLS, 43NIH Rare Diseases, 45Novoseek
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Aliases & Descriptions:

lipogranulomatosis 43 45
erdheim-chester disease 61


Related Diseases for Lipogranulomatosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lipogranulomatosis:



Diseases related to lipogranulomatosis

Clinical Features for Lipogranulomatosis

Drugs & Therapeutics for Lipogranulomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Lipogranulomatosis

Drug clinical trials:

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Search NIH Clinical Center for Lipogranulomatosis

Search CenterWatch for Lipogranulomatosis

Genetic Tests for Lipogranulomatosis

Anatomical Context for Lipogranulomatosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Lipogranulomatosis:

33
Bone marrow, Lymph node, Spleen, Liver, Breast, Skin

Animal Models for Lipogranulomatosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lipogranulomatosis

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51PubMed
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Articles related to Lipogranulomatosis:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Lipogranulomatosis and hypersplenism induced by ruptured silicone breast implants. (24228267)
2013
2
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. (24355074)
2013
3
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. (20609603)
2011
4
Disseminated lipogranulomatosis. (19242039)
2009
5
Diffuse lipogranulomatosis involving soft tissues of the head and neck due to multiple self-injections of mineral oil. (18617587)
2008
6
Surreptitious injection of mineral oil: a case report of sclerosing lipogranulomatosis. (18948786)
2008
7
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. (16951918)
2006
8
Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. (9645089)
1998
9
A case of Farber lipogranulomatosis. (9539328)
1998
10
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. (8892023)
1996
11
Clofazimine in inflammatory facial dermatosis--granuloma faciale and lipogranulomatosis subcutanea (Rothmann-Makai) (8721503)
1996
12
The anesthetic implications of a patient with Farber's lipogranulomatosis. (8291711)
1994
13
Sclerosing lipogranulomatosis: a case report of scrotal injection of automobile transmission fluid and literature review of subcutaneous injection of oils. (8430154)
1993
14
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement. (1557987)
1992
15
Farber's lipogranulomatosis in siblings: light and electron microscopic studies. (2514784)
1989
16
Farber's lipogranulomatosis. (3327826)
1987
17
Farber lipogranulomatosis: an unusual presentation in a black child. (2854742)
1986
18
Pulmonary lipogranulomatosis due to excessive consumption of apples. (3757573)
1986
19
Hepatic lipogranulomatosis simulating veno-occlusive disease of the liver. (3838237)
1985
20
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. (3987715)
1985
21
"Banana bodies" in disseminated lipogranulomatosis (Farber's disease). (6414327)
1983
22
Idiopathic lipogranulomatosis of spleen and periaortic lymph nodes with noncaseating granulomas of liver. (7173854)
1982
23
Lipogranulomatosis circumscripta (panniculitis non suppurativa). (7147697)
1982
24
Lipogranulomatosis of the genitalia caused by topical application of "baby oil". (7351706)
1980
25
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease). (7246981)
1980
26
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. (7441940)
1980
27
Farber's disease (disseminated lipogranulomatosis)--a pathological, histochemical and ultrastructural study--. (219658)
1979
28
A specific ultrastructural marker for disseminated lipogranulomatosis (Faber). (230790)
1979
29
Familial lipogranulomatosis (Farber's disease). (1277575)
1976
30
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (932904)
1976
31
Lipogranulomatosis of the mesentery. (948565)
1976
32
Lipogranulomatosis of external genitalia. (4594721)
1974
33
Lipogranulomatosis subcutanea of Rothman-Makai. (4664563)
1972
34
Ceramidase deficiency in Farber's disease (lipogranulomatosis). (4678225)
1972
35
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. (5109101)
1971
36
Sclerosing lipogranulomatosis. (5569331)
1971
37
Farber's disease (lipogranulomatosis). (5171854)
1971
38
Fatal lipogranulomatosis with atrial pseudotumour, intrahepatic sclerosing cholangitis and lymphoreticular proliferation simulating malignant lymphoma. (5477029)
1970
39
Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. (5395479)
1969
40
Biochemical and histochemical studies of a case of Farber's lipogranulomatosis. (5656562)
1968
41
Sclerosing lipogranulomatosis: its several abdominal syndromes. (6026707)
1967
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

Genetic Variations for Lipogranulomatosis

Expression for genes affiliated with Lipogranulomatosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipogranulomatosis

Search GEO for disease gene expression data for Lipogranulomatosis.

Pathways for genes affiliated with Lipogranulomatosis

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
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Pathways related to Lipogranulomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PSAP, GALC, ASAH1
29.1ASAH1, ASAH2, ACER2, ACER1
3
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8.6ACER1, ACER3, ACER2, ASAH2, ASAH1
4
Hide members
8.0ASAH2, ASAH1, ACER3, ACER1, GALC, PSAP

Compounds for genes affiliated with Lipogranulomatosis

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank, 29IUPHAR
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Compounds related to Lipogranulomatosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1n-oleoylethanolamine45 2411.1ASAH1, ASAH2
24-methylumbelliferyl-beta-d-glucoside4510.0PSAP, GALC
3psychosine4510.0PSAP, GALC
4galactosylceramide459.9PSAP, GALC
5glycolipid459.9PSAP, GALC
6ceranib 1609.8ASAH1, ASAH2, ACER1
7ceramide459.5PSAP, ASAH1, ASAH2
8stearic acid45 11 2411.4ACER1, ACER2, ASAH2, ASAH1
9palmitic acid29 11 2411.3ACER1, ASAH1, ASAH2, ACER2
10myristic acid45 11 2411.3ASAH1, ACER2, ACER1, ASAH2
11sphinganine45 2410.2ACER2, ACER3
12arachidonic acid45 29 11 2412.1ASAH1, ACER1, ASAH2, ACER2
13sphingosine45 11 2411.1PSAP, ACER1, ACER2, ASAH2, ASAH1
14glucosylceramide45 249.8ASAH1, ASAH2, ACER2, GALC, ACER1, PSAP
15dihydroceramide45 249.6ACER1, ACER3, ACER2, ASAH2, ASAH1, GALC

GO Terms for genes affiliated with Lipogranulomatosis

Sources:
16Gene Ontology
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Cellular components related to Lipogranulomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to Golgi membraneGO:0301739.5ACER2, ACER3
2lysosomal lumenGO:0432029.3ASAH1, GALC, PSAP

Biological processes related to Lipogranulomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of lipid metabolic processGO:0192169.8PSAP, ACER1
2glycosphingolipid metabolic processGO:0066879.3PSAP, GALC, ASAH1, ASAH2
3sphingosine biosynthetic processGO:0465129.2ACER3, ACER2, ACER1
4ceramide metabolic processGO:0066729.1ACER3, ACER2, ASAH2, ASAH1
5sphingolipid biosynthetic processGO:0301488.9ACER1, ACER3, ACER2
6sphingolipid metabolic processGO:0066658.1ASAH1, ASAH2, ACER2, ACER3, ACER1, GALC
7small molecule metabolic processGO:0442817.9PSAP, GALC, ACER1, ACER3, ACER2, ASAH2

Molecular functions related to Lipogranulomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:0716339.7ACER2, ACER1
2ceramidase activityGO:0170408.8ASAH1, ASAH2, ACER2, ACER1

Products for genes affiliated with Lipogranulomatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipogranulomatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet