MCID: LPG001
MIFTS: 31

Lipogranulomatosis malady

Rare diseases category

Aliases & Classifications for Lipogranulomatosis

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Sources:
41NIH Rare Diseases, 43Novoseek, 60UMLS
See all sources

Lipogranulomatosis, Aliases & Descriptions:

Name: Lipogranulomatosis 41 43
Erdheim-Chester Disease 60
 
Lipogranuloma 60


Classifications:

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


Summaries for Lipogranulomatosis

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MalaCards based summary: 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 S-1P Stimulated Signaling and sphingosine and sphingosine-1-phosphate metabolism. The compounds ceranib 1 and Tetrahexosylceramide (d18:1/18:0) have been mentioned in the context of this disorder. Affiliated tissues include lymph node, liver and bone marrow.

Related Diseases for Lipogranulomatosis

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1farber lipogranulomatosis29.3ASAH2, ASAH1, PSAP, ACER3, ACER1, ACER2
2niemann-pick disease10.1ASAH2, PSAP
3sphingolipidosis10.1ASAH2, PSAP
4gaucher's disease10.1ASAH2, PSAP
5niemann-pick disease, type c110.0ASAH2, PSAP
6arthritis10.0
7atherosclerosis10.0
8hepatitis10.0
9skin disease10.0
10hypersplenism10.0
11facial dermatosis10.0
12obstructive jaundice10.0
13sclerosing cholangitis10.0
14cholangitis10.0
15lipid metabolism disorder10.0
16panniculitis10.0

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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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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MalaCards organs/tissues related to Lipogranulomatosis:

31
Lymph node, Liver, Bone marrow, Bone, Spleen, Breast, Skin

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 pathways (with members indented)ScoreTop Affiliating Genes
19.8ASAH1, ASAH2
2
Show member pathways
ceramide degradation36
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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Sources:
59Tocris Bioscience, 24HMDB, 43Novoseek, 12DrugBank
See all sources

Compounds related to Lipogranulomatosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1ceranib 1599.7ASAH2, ASAH1, ACER1
2Tetrahexosylceramide (d18:1/18:0)249.2ASAH1, ACER2, ASAH2, ACER1
3Tetrahexosylceramide (d18:1/16:0)249.2ASAH2, ASAH1, ACER1, ACER2
4Mannosyl-diinositol-phosphorylceramide249.2ASAH1, ACER2, ACER1, ASAH2
5Tetrahexosylceramide (d18:1/20:0)249.2ACER2, ACER1, ASAH1, ASAH2
6Tetrahexosylceramide (d18:1/22:0)249.2ACER2, ACER1, ASAH1, ASAH2
7Inositol-P-ceramide249.2ACER1, ASAH1, ASAH2, ACER2
8Lactosyceramide (d18:1/18:1(9Z))249.2ACER2, ACER1, ASAH1, ASAH2
9Mannosyl-inositol-phosphorylceramide249.2ACER2, ACER1, ASAH1, ASAH2
10Tetrahexosylceramide (d18:1/24:0)249.2ASAH1, ACER2, ACER1, ASAH2
11Tetrahexosylceramide (d18:1/26:1(17Z))249.2ACER2, ACER1, ASAH1, ASAH2
12Tetrahexosylceramide (d18:1/26:0)249.2ASAH2, ASAH1, ACER1, ACER2
13Tetrahexosylceramide (d18:1/25:0)249.2ASAH2, ASAH1, ACER1, ACER2
14Tetrahexosylceramide (d18:1/24:1(15Z))249.2ASAH1, ACER1, ASAH2, ACER2
15Tetrahexosylceramide (d18:1/9Z-18:1)249.2ASAH2, ACER2, ASAH1, ACER1
16Galabiosylceramide (d18:1/9Z-18:1)249.2ASAH2, ASAH1, ACER1, ACER2
17Galabiosylceramide (d18:1/26:1(17Z))249.2ASAH2, ASAH1, ACER1, ACER2
18Galabiosylceramide (d18:1/18:0)249.2ASAH2, ACER2, ASAH1, ACER1
19Galabiosylceramide (d18:1/25:0)249.2ACER1, ASAH2, ASAH1, ACER2
20Glucosylceramide (d18:1/24:0)249.2ASAH2, ASAH1, ACER1, ACER2
21Galabiosylceramide (d18:1/22:0)249.2ASAH2, ASAH1, ACER1, ACER2
22Galabiosylceramide (d18:1/20:0)249.1ASAH2, ASAH1, ACER1, ACER2
23Galabiosylceramide (d18:1/16:0)249.1ASAH2, ASAH1, ACER1, ACER2
24Galabiosylceramide (d18:1/24:0)249.1ACER2, ACER1, ASAH2, ASAH1
25Galabiosylceramide (d18:1/26:0)249.1ASAH2, ASAH1, ACER1, ACER2
26Galabiosylceramide (d18:1/24:1(15Z))249.1ASAH2, ASAH1, ACER1, ACER2
27Tridecanoic acid249.1ASAH1, ASAH2, ACER1, ACER2
28Heptadecanoic acid249.1ASAH2, ASAH1, ACER2, ACER1
29Pentadecanoic acid249.1ACER1, ACER2, ASAH2, ASAH1
303-O-Sulfogalactosylceramide (d18:1/12:0)249.1ACER2, ACER1, ASAH1, ASAH2
313-O-Sulfogalactosylceramide (d18:1/20:0)249.1ACER2, ACER1, ASAH1, ASAH2
323-O-Sulfogalactosylceramide (d18:1/22:0)249.1ACER2, ACER1, ASAH1, ASAH2
333-O-Sulfogalactosylceramide (d18:1/14:0)249.1ASAH2, ACER2, ACER1, ASAH1
343-O-Sulfogalactosylceramide (d18:1/24:1(15Z))249.0ACER2, ACER1, ASAH1, ASAH2
353-O-Sulfogalactosylceramide (d18:1/26:1(17Z))249.0ACER2, ACER1, ASAH1, ASAH2
363-O-Sulfogalactosylceramide (d18:1/18:1(9Z))249.0ASAH2, ASAH1, ACER1, ACER2
373-O-Sulfogalactosylceramide (d18:1/16:0)249.0ACER2, ACER1, ASAH1, ASAH2
383-O-Sulfogalactosylceramide (d18:1/18:0)249.0ACER2, ACER1, ASAH1, ASAH2
39Glucosylceramide (d18:1/24:1(15Z))249.0ACER2, ACER1, ASAH1, ASAH2
40Glucosylceramide (d18:1/26:1(17Z))248.9ACER2, ACER1, ASAH1, ASAH2
41Galactosylceramide (d18:1/14:0)248.9ACER1, ACER2, ASAH1, ASAH2
42Galactosylceramide (d18:1/12:0)248.8ACER2, ACER1, ASAH1, ASAH2
433-O-Sulfogalactosylceramide (d18:1/24:0)248.8ASAH2, ASAH1, PSAP, ACER1, ACER2
44glucosylceramide43 249.8ACER2, ASAH2, ASAH1, PSAP, ACER1
45sphingosine43 24 1210.8ASAH1, ASAH2, ACER1, ACER2, PSAP
46Glucosylceramide (d18:1/22:0)248.8ASAH2, ASAH1, ACER1, ACER2
47Glucosylceramide (d18:1/18:0)248.8ACER1, ASAH1, ASAH2, ACER2
48dihydroceramide43 249.7ACER1, ACER3, ASAH1, ASAH2, ACER2
49Tetrahexosylceramide (d18:1/12:0)248.7ASAH2, ACER1, ACER2, ASAH1
50Glucosylceramide (d18:1/12:0)248.5ACER2, ACER1, ASAH1, ASAH2

GO Terms for genes affiliated with Lipogranulomatosis

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Cellular components related to Lipogranulomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.7PSAP, ASAH1
2integral component of Golgi membraneGO:00301739.1ACER2, ACER3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of lipid metabolic processGO:00192169.6PSAP, ACER1
2glycosphingolipid metabolic processGO:00066879.0ASAH1, PSAP, ASAH2
3sphingosine biosynthetic processGO:00465129.0ACER1, ACER2, ACER3
4sphingolipid biosynthetic processGO:00301489.0ACER2, ACER1, ACER3
5ceramide metabolic processGO:00066728.8ASAH2, ASAH1, ACER3, ACER2
6sphingolipid metabolic processGO:00066658.0ACER2, ACER1, ACER3, PSAP, ASAH1, ASAH2
7small molecule metabolic processGO:00442817.7ACER3, ASAH1, PSAP, ACER1, ACER2, ASAH2

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

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:00716339.5ACER2, ACER1
2ceramidase activityGO:00170408.5ACER2, ACER1, ASAH1, ASAH2

Products for genes affiliated with Lipogranulomatosis

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Sources for Lipogranulomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet