MCID: LPM005
MIFTS: 54

Lipomatosis malady

Skin diseases category

Summaries for Lipomatosis

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66Wikipedia, 34MalaCards
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Wikipedia:66 Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on... more...

MalaCards: Lipomatosis, also known as benign symmetrical lipomatosis, is related to pelvic lipomatosis and lipoma. An important gene associated with Lipomatosis is HMGA2 (high mobility group AT-hook 2), and among its related pathways are Adipogenesis and Chromatin Regulation / Acetylation. The compounds pgc1 and thenoyltrifluoroacetone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related mouse phenotypes are digestive/alimentary and vision/eye.

Aliases & Classifications for Lipomatosis

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

lipomatosis 9 11 46
benign symmetrical lipomatosis 63


External Ids:

Disease Ontology9 DOID:3153
MeSH36 D008068
SNOMED-CT59 402693001, 37095002
ICD1026 E88.2

Related Diseases for Lipomatosis

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18GeneCards, 19GeneDecks
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Diseases related to Lipomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 204)
idRelated DiseaseScoreTop Affiliating Genes
1pelvic lipomatosis31.4HMGA1, HMGA2
2lipoma30.8PTEN, MEN1, UCP1, HMGA1, HMGA2
3adenocarcinoma30.1PIK3CA, PTEN, CEL, MEN1, ACTC1, HMGA1
4mitochondrial disorders30.1COX5A, SDHB
5cowden disease30.1PIK3CA, PTEN
6merrf syndrome29.9SDHB, COX5A
7noonan syndrome29.8PPARGC1A, ACTC1, COX5A
8multiple endocrine neoplasia29.8MEN1, PRKAR1A, SDHB
9pituitary adenoma29.8PRKAR1A, MEN1, HMGA2
10tuberous sclerosis29.7PIK3CA, PTEN, GSR
11adenoma29.5PRKAR1A, MEN1, ACTC1, COX5A, GSR, HMGA1
12multiple symmetric lipomatosis10.9
13multiple symmetrical lipomatosis10.8
14encephalocraniocutaneous lipomatosis10.8
15mediastinal lipomatosis10.6
16mediastinitis10.6
17diffuse lipomatosis10.5
18madelung disease10.4
19proteus syndrome10.3
20obesity10.3
21cystitis10.3
22pancreatitis10.3
23thyroiditis10.3
24hemihyperplasia-multiple lipomatosis syndrome10.3
25xanthogranulomatous pyelonephritis10.2
26pyelonephritis10.2
27pancreatic lipomatosis duodenal stenosis10.2
28roch-leri mesosomatous lipomatosis10.2
29ureteral obstruction10.2
30intussusception10.2
31neuropathy10.2
32cauda equina syndrome10.1
33adiposis dolorosa10.1
34paraplegia10.1
35shwachman-diamond syndrome10.1
36hemimegalencephaly10.1
37cowden syndrome 110.1PTEN
38carney triad10.1SDHB
39leiomyomatosis10.1SDHB
40early myoclonic encephalopathy10.1COX5A, SDHB
41chondroma10.1SDHB, HMGA2
42cerebritis10.1
43cushing's syndrome10.1
44steroid lipomatosis10.1
45laryngitis10.1
46lipodystrophy10.1
47liposarcoma10.1
48myopathy10.1
49gigantism10.1
50oculocerebrocutaneous syndrome10.1

Graphical network of the top 20 diseases related to Lipomatosis:



Diseases related to lipomatosis

Symptoms for Lipomatosis

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Drugs & Therapeutics for Lipomatosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Lipomatosis

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Anatomical Context for Lipomatosis

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34MalaCards
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MalaCards organs/tissues related to Lipomatosis:

34
Thyroid, Tongue, Colon, Spinal cord, Kidney, Skin, Bone, Liver, Adipocyte, Pituitary, Brain, Small intestine, B cells, Lung, Bone marrow, Testis, Prostate, Salivary gland, Pancreas, Heart, Trachea, Cerebellum

Animal Models for Lipomatosis or affiliated genes

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38MGI
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Publications for Lipomatosis

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53PubMed
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Articles related to Lipomatosis:

(show top 50)    (show all 674)
idTitleAuthorsYear
1
Lipomatosis of the neck. (23524786)
2013
2
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
3
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. (23116686)
2013
4
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
5
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
6
Corticosteroid-induced spinal epidural lipomatosis in the pediatric age group: report of a new case and updated analysis of the literature. (21284882)
2011
7
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. (20881536)
2010
8
Lipomatosis of the trigeminal nerve causing trigeminal neuralgia: case report and literature review. (21311625)
2010
9
Pelvic and retroperitoneal lipomatosis: case report. (21830459)
2010
10
Necrotizing Infiltrative Lipomatosis in a Miniature Zebu Bull (Bos primigenius indicus). (20445793)
2010
11
Spinal epidural lipomatosis: An unusual cause of relapsing and remitting paraparesis. (21559166)
2010
12
Congenital infiltrating lipomatosis. (19124289)
2009
13
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). (19215040)
2009
14
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
15
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
16
Synovial lipomatosis arborescens of the peroneal tendon sheath. (18682928)
2008
17
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
18
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. (18568254)
2008
19
Fat suppression imaging in epidural lipomatosis: case report. (17963658)
2007
20
Multiple lipomatosis--a rare cause for small bowel intussusception. (18157202)
2007
21
Lipomatous hypertrophy of the interatrial septum with cutaneous lipomatosis. (17527001)
2007
22
Spinal epidural lipomatosis caused by corticosteroid treatment in ulcerative colitis. (16490695)
2006
23
Mandibular osteoma in the encephalocraniocutaneous lipomatosis. (15975807)
2005
24
Cushing's syndrome with mediastinal lipomatosis. (15322612)
2004
25
Spinal epidural lipomatosis: a case study. (15366546)
2004
26
Lipoma arborescens (diffuse articular lipomatosis). (14577726)
2003
27
Infiltrating lipomatosis of the face: a case report and review of the literature. (12966488)
2003
28
Encephalocraniocutaneous lipomatosis syndrome in a child: association with multiple high flow cerebral arteriovenous fistulae. Case report and review. (20594485)
2002
29
Clinical picture: epidural lipomatosis. (11747940)
2001
30
Benign symmetric lipomatosis (Madelung's disease). (10854826)
2000
31
Lipomatosis of the parotid gland in a child. (11090329)
2000
32
The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis. (10519386)
1999
33
Diffuse intramuscular lipomatosis of a lower limb. (18521234)
1998
34
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
35
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
36
Co-existent renal replacement lipomatosis and pyelitis glandularis. (7959988)
1994
37
Encephalocraniocutaneous lipomatosis: case report and review of the literature. (8346113)
1993
38
Re: Pelvic lipomatosis associated with cystitis glandularis and adenocarcinoma of the bladder. (1569691)
1992
39
Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1. (1511984)
1992
40
Multiple symmetrical lipomatosis. (1521476)
1992
41
Diffuse lipomatosis involving the thoracic and abdominal wall: CT features. (1825832)
1991
42
Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan. (3897999)
1985
43
CAT scan of the month. Pelvic lipomatosis. (6503281)
1984
44
Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome. (6744991)
1984
45
CT-scan: a diagnostic proof for pelvic lipomatosis. (7106135)
1982
46
Pelvic lipomatosis. (7416633)
1980
47
Pelvic lipomatosis: successful surgical treatment. (4742176)
1973
48
Pelvic lipomatosis: a rare cause of suprapubic mass. (4695094)
1973
49
Pelvic lipomatosis causing urinary obstruction. (5552151)
1971
50
Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. (5665293)
1968

Variations for Lipomatosis

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Expression for genes affiliated with Lipomatosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipomatosis

Search GEO for disease gene expression data for Lipomatosis.

Pathways for genes affiliated with Lipomatosis

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Sources:
51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 61Thomson Reuters, 31KEGG, 56Reactome
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Pathways related to Lipomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6HMGA1, UCP1, PPARGC1A
29.6HMGA2, HMGA1, MEN1
3
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.1PRKAR1A, PTEN, PIK3CA
4
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
8.9PPARGC1A, PIK3CA, PTEN, PRKAR1A
58.5PIK3CA, PTEN, PRKAR1A, MEN1, HMGA1
6
Show member pathways
8.2PPARGC1A, PIK3CA, SDHB, COX5A, UCP1
7
Show member pathways
6.5GSR, PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A

Compounds for genes affiliated with Lipomatosis

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Lipomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1pgc14610.3UCP1, PPARGC1A
2thenoyltrifluoroacetone46 1211.3UCP1, SDHB
3dbds4610.2HMGA1, HMGA2
4hmga4610.2HMGA1, HMGA2
5ubiquinone469.8SDHB, UCP1, GSR
6rotenone469.8SDHB, UCP1, GSR
7rosiglitazone30 46 52 25 1213.4PPARGC1A, PIK3CA, PTEN, UCP1
8carnitine469.4UCP1, COX5A, PPARGC1A
9citrate469.3COX5A, SDHB, PPARGC1A
10aspartate469.2GSR, UCP1, PTEN, SDHB
11pyruvate469.2PPARGC1A, SDHB, COX5A, UCP1
12imatinib46 52 1211.2ACTC1, PTEN, PIK3CA
13glucose 6-phosphate46 2510.1SDHB, COX5A, GSR
14crcs469.1PIK3CA, PTEN, COX5A
15quercetin46 62 25 1212.1PIK3CA, PTEN, GSR
16linoleic acid30 46 2511.1PPARGC1A, CEL, COX5A, UCP1
17glycogen46 2510.0ACTC1, PTEN, SDHB, PIK3CA, PPARGC1A
18arsenite46 2510.0GSR, PTEN, PIK3CA
19cisplatin46 52 62 1212.0PIK3CA, PTEN, GSR, HMGA2
20ethanol46 52 25 1211.9SDHB, PTEN, CEL, COX5A
21testosterone46 62 25 1211.8PPARGC1A, PIK3CA, SDHB, PTEN, ACTC1, UCP1
22cyclic amp46 259.8PPARGC1A, PTEN, PRKAR1A, COX5A, UCP1
23hcec468.7COX5A, PIK3CA
24creatinine468.6SDHB, ACTC1, COX5A, GSR
25steroid468.6PPARGC1A, PIK3CA, PTEN, PRKAR1A, ACTC1, HMGA1
26nitric oxide46 25 1210.5PPARGC1A, PIK3CA, PTEN, COX5A, UCP1
27nadph46 259.5PIK3CA, SDHB, COX5A, GSR
28genistein46 30 62 3 25 1213.5GSR, COX5A, PTEN, PIK3CA
29lactate468.5GSR, COX5A, SDHB, PIK3CA
30progesterone46 30 62 25 1212.5PIK3CA, PTEN, ACTC1, COX5A, UCP1
31fatty acid468.4PPARGC1A, PTEN, CEL, COX5A, UCP1, HMGA1
32superoxide46 259.4GSR, UCP1, COX5A, SDHB, PIK3CA
33doxorubicin46 52 1210.4PIK3CA, PTEN, COX5A, GSR, HMGA2
34adenylate468.4PIK3CA, PRKAR1A, CEL, GSR
35tyrosine468.4PIK3CA, SDHB, PTEN, MEN1, ACTC1, UCP1
36atp46 309.3PPARGC1A, PIK3CA, SDHB, PTEN, COX5A, UCP1
37dexamethasone46 52 30 1211.3PPARGC1A, PIK3CA, PRKAR1A, ACTC1, COX5A
38cysteine468.3SDHB, PTEN, PRKAR1A, COX5A, UCP1, GSR
39glucose468.1PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A, ACTC1
40glutamate468.0GSR, UCP1, COX5A, PRKAR1A, SDHB, PIK3CA
41vegf467.9PPARGC1A, PIK3CA, SDHB, PTEN, MEN1, ACTC1
42retinoic acid46 258.7PPARGC1A, PIK3CA, PTEN, ACTC1, COX5A, UCP1
43h2o2467.7PIK3CA, SDHB, PTEN, CEL, COX5A, UCP1
44oxygen46 258.6PPARGC1A, SDHB, PTEN, CEL, ACTC1, COX5A
45cholesterol46 30 25 1210.6HMGA1, PPARGC1A, PIK3CA, SDHB, PTEN, CEL
46serine467.5PPARGC1A, PIK3CA, PTEN, CEL, MEN1, COX5A
47arginine467.4PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A, COX5A
48estrogen467.3PPARGC1A, PIK3CA, PTEN, MEN1, ACTC1, COX5A
49calcium46 52 25 1210.3PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A, CEL
50lipid467.0PPARGC1A, PIK3CA, SDHB, PTEN, CEL, COX5A

GO Terms for genes affiliated with Lipomatosis

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17Gene Ontology
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Cellular components related to Lipomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1senescence-associated heterochromatin focusGO:0359859.9HMGA2, HMGA1
2cytosolGO:0058296.5HMGA1, PPARGC1A, PIK3CA, PTEN, PRKAR1A, CEL

Biological processes related to Lipomatosis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1oncogene-induced cell senescenceGO:09040210.1HMGA2, HMGA1
2senescence-associated heterochromatin focus assemblyGO:03598610.1HMGA2, HMGA1
3positive regulation of cellular senescenceGO:200077410.1HMGA2, HMGA1
4negative regulation of organ growthGO:04662110.0MEN1, PTEN
5DNA catabolic process, endonucleolyticGO:0007379.9HMGA2, HMGA1
6positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.9PPARGC1A, PTEN, HMGA2
7brown fat cell differentiationGO:0508739.8PPARGC1A, UCP1
8endothelial cell migrationGO:0435429.6PIK3CA, PTEN
9cellular metabolic processGO:0442379.3SDHB, COX5A, UCP1
10fibroblast growth factor receptor signaling pathwayGO:0085439.3PRKAR1A, PTEN, PIK3CA
11protein kinase B signalingGO:0434919.3PTEN, PIK3CA
12epidermal growth factor receptor signaling pathwayGO:0071739.1PRKAR1A, PTEN, PIK3CA
13respiratory electron transport chainGO:0229049.1PPARGC1A, SDHB, COX5A, UCP1
14small molecule metabolic processGO:0442817.1GSR, PIK3CA, SDHB, PTEN, PRKAR1A, CEL

Molecular functions related to Lipomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
15-deoxyribose-5-phosphate lyase activityGO:05157510.0HMGA2, HMGA1
2AT DNA bindingGO:0036809.8HMGA1, HMGA2
3DNA-(apurinic or apyrimidinic site) lyase activityGO:0039069.6HMGA2, HMGA1
4electron carrier activityGO:0090558.9GSR, COX5A, SDHB
5protein bindingGO:0055157.2PIK3CA, SDHB, PTEN, PRKAR1A, CEL, MEN1

Products for genes affiliated with Lipomatosis

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Sources for Lipomatosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet