MCID: LPG001
MIFTS: 36

Lipogranulomatosis malady

Rare diseases category
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Summaries for Lipogranulomatosis

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 sphingolipidosis. An important gene associated with Lipogranulomatosis is ASAH1 (N-acylsphingosine amidohydrolase (acid ceramidase) 1), and among its related pathways are S-1P Stimulated Signaling and sphingosine and sphingosine-1-phosphate metabolism. The compounds ceranib 1 and Tetrahexosylceramide (d18:1/20:0) have been mentioned in the context of this disorder. Affiliated tissues include liver, lymph node and skin.

Aliases & Classifications for Lipogranulomatosis

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62UMLS, 43NIH Rare Diseases, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

lipogranulomatosis 43 45
erdheim-chester disease 62


Related Diseases for Lipogranulomatosis

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17GeneCards, 18GeneDecks
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Diseases related to Lipogranulomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1farber lipogranulomatosis30.7ASAH2, ASAH1, PSAP, ACER3, ACER1, ACER2
2sphingolipidosis10.0ASAH2, PSAP
3gaucher's disease10.0ASAH2, PSAP
4niemann-pick disease10.0ASAH2, PSAP
5hypersplenism10.0
6facial dermatosis10.0
7obstructive jaundice10.0
8sclerosing cholangitis10.0
9arthritis10.0
10atherosclerosis10.0
11cholangitis10.0
12hepatitis10.0
13lipid metabolism disorder10.0
14panniculitis10.0
15skin disease10.0

Graphical network of diseases related to Lipogranulomatosis:



Diseases related to lipogranulomatosis

Symptoms for Lipogranulomatosis

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Drugs & Therapeutics for Lipogranulomatosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Lipogranulomatosis

Search NIH Clinical Center for Lipogranulomatosis

Genetic Tests for Lipogranulomatosis

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Anatomical Context for Lipogranulomatosis

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33MalaCards
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MalaCards organs/tissues related to Lipogranulomatosis:

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

Animal Models for Lipogranulomatosis or affiliated genes

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Publications for Lipogranulomatosis

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52PubMed
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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
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. (23385296)
2013
3
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. (24355074)
2013
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
Farber's lipogranulomatosis]. (8577050)
1995
13
The anesthetic implications of a patient with Farber's lipogranulomatosis. (8291711)
1994
14
Sclerosing lipogranulomatosis: a case report of scrotal injection of automobile transmission fluid and literature review of subcutaneous injection of oils. (8430154)
1993
15
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement. (1557987)
1992
16
Farber's lipogranulomatosis in siblings: light and electron microscopic studies. (2514784)
1989
17
Farber's lipogranulomatosis. (3327826)
1987
18
Farber lipogranulomatosis: an unusual presentation in a black child. (2854742)
1986
19
Pulmonary lipogranulomatosis due to excessive consumption of apples. (3757573)
1986
20
Hepatic lipogranulomatosis simulating veno-occlusive disease of the liver. (3838237)
1985
21
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. (3987715)
1985
22
"Banana bodies" in disseminated lipogranulomatosis (Farber's disease). (6414327)
1983
23
Idiopathic lipogranulomatosis of spleen and periaortic lymph nodes with noncaseating granulomas of liver. (7173854)
1982
24
Lipogranulomatosis circumscripta (panniculitis non suppurativa). (7147697)
1982
25
Lipogranulomatosis of the genitalia caused by topical application of "baby oil". (7351706)
1980
26
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease). (7246981)
1980
27
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. (7441940)
1980
28
Farber's disease (disseminated lipogranulomatosis)--a pathological, histochemical and ultrastructural study--. (219658)
1979
29
A specific ultrastructural marker for disseminated lipogranulomatosis (Faber). (230790)
1979
30
Familial lipogranulomatosis (Farber's disease). (1277575)
1976
31
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (932904)
1976
32
Lipogranulomatosis of the mesentery. (948565)
1976
33
Lipogranulomatosis of external genitalia. (4594721)
1974
34
Lipogranulomatosis subcutanea of Rothman-Makai. (4664563)
1972
35
Ceramidase deficiency in Farber's disease (lipogranulomatosis). (4678225)
1972
36
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. (5109101)
1971
37
Sclerosing lipogranulomatosis. (5569331)
1971
38
Farber's disease (lipogranulomatosis). (5171854)
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
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

Variations for Lipogranulomatosis

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Expression for genes affiliated with Lipogranulomatosis

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2BioGPS, 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

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Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Lipogranulomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ASAH1, ASAH2
2
Show member pathways
ceramide degradation38
8.8ASAH1, ACER1, ACER2, ASAH2
3
Show member pathways
7.8ACER2, ACER1, ACER3, PSAP, ASAH1, ASAH2
4
Show member pathways
7.8ASAH1, ASAH2, ACER3, ACER1, ACER2, PSAP

Compounds for genes affiliated with Lipogranulomatosis

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61Tocris Bioscience, 24HMDB, 45Novoseek, 11DrugBank
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Compounds related to Lipogranulomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1ceranib 1619.7ACER1, ASAH2, ASAH1
2Tetrahexosylceramide (d18:1/20:0)249.2ACER1, ACER2, ASAH1, ASAH2
3Tetrahexosylceramide (d18:1/16:0)249.2ACER2, ACER1, ASAH1, ASAH2
4Tetrahexosylceramide (d18:1/18:0)249.2ACER2, ACER1, ASAH1, ASAH2
5Mannosyl-inositol-phosphorylceramide249.2ASAH2, ASAH1, ACER1, ACER2
6Inositol-P-ceramide249.2ACER1, ASAH1, ASAH2, ACER2
7Lactosyceramide (d18:1/18:1(9Z))249.2ACER2, ACER1, ASAH1, ASAH2
8Mannosyl-diinositol-phosphorylceramide249.2ACER2, ACER1, ASAH1, ASAH2
9Tetrahexosylceramide (d18:1/24:0)249.2ASAH1, ACER2, ACER1, ASAH2
10Tetrahexosylceramide (d18:1/25:0)249.2ASAH1, ASAH2, ACER1, ACER2
11Tetrahexosylceramide (d18:1/26:0)249.2ACER1, ASAH1, ASAH2, ACER2
12Tetrahexosylceramide (d18:1/26:1(17Z))249.2ACER2, ACER1, ASAH1, ASAH2
13Tetrahexosylceramide (d18:1/9Z-18:1)249.2ACER2, ACER1, ASAH1, ASAH2
14Tetrahexosylceramide (d18:1/22:0)249.2ACER2, ACER1, ASAH1, ASAH2
15Tetrahexosylceramide (d18:1/24:1(15Z))249.2ACER2, ACER1, ASAH1, ASAH2
16Galabiosylceramide (d18:1/16:0)249.2ACER2, ACER1, ASAH1, ASAH2
17Galabiosylceramide (d18:1/22:0)249.2ASAH1, ASAH2, ACER1, ACER2
18Galabiosylceramide (d18:1/24:0)249.2ACER1, ASAH1, ACER2, ASAH2
19Glucosylceramide (d18:1/24:0)249.2ASAH2, ACER1, ACER2, ASAH1
20Galabiosylceramide (d18:1/18:0)249.2ACER1, ACER2, ASAH1, ASAH2
21Galabiosylceramide (d18:1/20:0)249.2ASAH2, ACER2, ACER1, ASAH1
22Galabiosylceramide (d18:1/26:0)249.1ACER1, ACER2, ASAH1, ASAH2
23Galabiosylceramide (d18:1/25:0)249.1ASAH2, ASAH1, ACER1, ACER2
24Galabiosylceramide (d18:1/9Z-18:1)249.1ASAH2, ASAH1, ACER2, ACER1
25Galabiosylceramide (d18:1/26:1(17Z))249.1ACER2, ACER1, ASAH2, ASAH1
26Galabiosylceramide (d18:1/24:1(15Z))249.1ACER2, ACER1, ASAH1, ASAH2
273-O-Sulfogalactosylceramide (d18:1/18:1(9Z))249.1ASAH1, ASAH2, ACER1, ACER2
283-O-Sulfogalactosylceramide (d18:1/14:0)249.1ASAH2, ASAH1, ACER1, ACER2
293-O-Sulfogalactosylceramide (d18:1/22:0)249.1ASAH2, ASAH1, ACER1, ACER2
303-O-Sulfogalactosylceramide (d18:1/24:1(15Z))249.1ACER1, ACER2, ASAH1, ASAH2
313-O-Sulfogalactosylceramide (d18:1/26:1(17Z))249.1ASAH1, ACER2, ACER1, ASAH2
323-O-Sulfogalactosylceramide (d18:1/16:0)249.1ACER2, ASAH2, ASAH1, ACER1
333-O-Sulfogalactosylceramide (d18:1/18:0)249.1ACER2, ACER1, ASAH1, ASAH2
343-O-Sulfogalactosylceramide (d18:1/12:0)249.0ASAH2, ASAH1, ACER1, ACER2
35Tridecanoic acid249.0ACER2, ASAH2, ASAH1, ACER1
363-O-Sulfogalactosylceramide (d18:1/20:0)249.0ASAH2, ASAH1, ACER1, ACER2
37Galactosylceramide (d18:1/12:0)249.0ASAH1, ASAH2, ACER1, ACER2
38Glucosylceramide (d18:1/26:1(17Z))249.0ACER2, ACER1, ASAH1, ASAH2
39Glucosylceramide (d18:1/24:1(15Z))249.0ASAH1, ACER1, ACER2, ASAH2
40Galactosylceramide (d18:1/14:0)248.9ASAH2, ASAH1, ACER1, ACER2
41Pentadecanoic acid248.9ASAH2, ASAH1, ACER1, ACER2
42Heptadecanoic acid248.8ASAH2, ASAH1, ACER1, ACER2
433-O-Sulfogalactosylceramide (d18:1/24:0)248.8ASAH2, ASAH1, ACER1, ACER2, PSAP
44glucosylceramide45 249.8PSAP, ACER2, ASAH2, ASAH1, ACER1
45sphingosine45 24 1110.8ACER2, ASAH1, PSAP, ACER1, ASAH2
46Glucosylceramide (d18:1/12:0)248.8ACER2, ACER1, ASAH1, ASAH2
47Glucosylceramide (d18:1/18:0)248.8ACER2, ACER1, ASAH2, ASAH1
48dihydroceramide45 249.7ACER1, ACER3, ASAH1, ASAH2, ACER2
49Glucosylceramide (d18:1/25:0)248.7ACER2, ACER1, ASAH1, ASAH2
50Glucosylceramide (d18:1/22:0)248.5ASAH2, ACER2, ACER1, ASAH1

GO Terms for genes affiliated with Lipogranulomatosis

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.7PSAP, ASAH1
2integral component of Golgi membraneGO:0301739.1ACER2, ACER3

Biological processes related to Lipogranulomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of lipid metabolic processGO:0192169.6PSAP, ACER1
2glycosphingolipid metabolic processGO:0066879.0ASAH1, PSAP, ASAH2
3sphingosine biosynthetic processGO:0465129.0ACER1, ACER2, ACER3
4sphingolipid biosynthetic processGO:0301489.0ACER2, ACER1, ACER3
5ceramide metabolic processGO:0066728.8ASAH2, ASAH1, ACER3, ACER2
6sphingolipid metabolic processGO:0066658.0ACER2, ACER1, ACER3, PSAP, ASAH1, ASAH2
7small molecule metabolic processGO:0442817.7ACER3, ASAH1, PSAP, ACER1, ACER2, ASAH2

Molecular functions related to Lipogranulomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:0716339.5ACER2, ACER1
2ceramidase activityGO:0170408.5ACER2, ACER1, ASAH1, ASAH2

Products for genes affiliated with Lipogranulomatosis

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Lipogranulomatosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet