MCID: LPM005
MIFTS: 56

Lipomatosis malady

Metabolic diseases, Skin diseases categories
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Summaries for Lipomatosis

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Wikipedia:65 Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on... more...

MalaCards based summary: 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 spinal cord, thyroid and tongue, and related mouse phenotypes are digestive/alimentary and vision/eye.

Aliases & Classifications for Lipomatosis

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 57SNOMED-CT, 25ICD10
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Lipomatosis, Aliases & Descriptions:

Name: Lipomatosis 8 10 44
 
Benign Symmetrical Lipomatosis 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:3153
MeSH34 D008068
SNOMED-CT57 37095002, 402693001
ICD1025 E88.2

Related Diseases for Lipomatosis

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

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1pelvic lipomatosis31.9HMGA1, HMGA2
2lipoma30.8PTEN, MEN1, UCP1, HMGA1, HMGA2
3mitochondrial disorders30.6COX5A, SDHB
4merrf syndrome30.4SDHB, COX5A
5cowden disease30.4PIK3CA, PTEN
6noonan syndrome30.1PPARGC1A, ACTC1, COX5A
7multiple endocrine neoplasia30.0MEN1, PRKAR1A, SDHB
8pituitary adenoma30.0PRKAR1A, MEN1, HMGA2
9tuberous sclerosis29.7PIK3CA, PTEN, GSR
10adenocarcinoma29.5PIK3CA, PTEN, CEL, MEN1, ACTC1, HMGA1
11adenoma28.8PRKAR1A, MEN1, ACTC1, COX5A, GSR, HMGA1
12multiple symmetric lipomatosis10.9
13multiple symmetrical lipomatosis10.9
14encephalocraniocutaneous lipomatosis10.8
15mediastinal lipomatosis10.6
16mediastinitis10.6
17diffuse lipomatosis10.5
18cowden syndrome 110.5PTEN
19carney triad10.5SDHB
20leiomyomatosis10.5SDHB
21madelung disease10.5
22early myoclonic encephalopathy10.4COX5A, SDHB
23chondroma10.4SDHB, HMGA2
24obesity10.4
25pancreatitis10.4
26multiple endocrine neoplasia type 2a10.4MEN1, SDHB
27lactic acidosis10.3SDHB, COX5A
28proteus syndrome10.3
29cystitis10.3
30von hippel-lindau disease10.3SDHB, MEN1
31thyroiditis10.3
32hemihyperplasia-multiple lipomatosis syndrome10.3
33leigh disease10.3SDHB, COX5A
34paraganglioma10.3ACTC1, SDHB
35breast fibroadenoma10.3HMGA1, HMGA2
36familial colorectal cancer10.3MEN1, PTEN, SDHB
37follicular thyroid carcinoma10.3PTEN, PIK3CA
38smooth muscle tumor10.3ACTC1, HMGA2
39carney complex10.2MEN1, PRKAR1A
40xanthogranulomatous pyelonephritis10.2
41pyelonephritis10.2
42pancreatic lipomatosis duodenal stenosis10.2
43roch-leri mesosomatous lipomatosis10.2
44wermer syndrome10.2PRKAR1A, MEN1
45adrenal adenoma10.2MEN1, PRKAR1A
46pheochromocytoma10.2UCP1, MEN1, SDHB
47shwachman-diamond syndrome10.2
48ureteral obstruction10.2
49intussusception10.2
50adiposis dolorosa10.2

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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Drug clinical trials:

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Genetic Tests for Lipomatosis

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Anatomical Context for Lipomatosis

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MalaCards organs/tissues related to Lipomatosis:

32
Spinal cord, Thyroid, Tongue, Colon, Kidney, Skin, Bone, Liver, Brain, Adipocyte, Pituitary, Small intestine, Bone marrow, Cerebellum, Lung, Pancreas, Salivary gland, Prostate, Testis, B cells, Trachea

Animal Models for Lipomatosis or affiliated genes

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Publications for Lipomatosis

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Articles related to Lipomatosis:

(show top 50)    (show all 700)
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
Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies. (23197919)
2012
6
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
7
Spinal cord stimulation in a patient with spinal epidural lipomatosis. (21332929)
2011
8
Corticosteroid-induced spinal epidural lipomatosis in the pediatric age group: report of a new case and updated analysis of the literature. (21284882)
2011
9
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. (20881536)
2010
10
Lipomatosis of the trigeminal nerve causing trigeminal neuralgia: case report and literature review. (21311625)
2010
11
Pelvic and retroperitoneal lipomatosis: case report. (21830459)
2010
12
Necrotizing Infiltrative Lipomatosis in a Miniature Zebu Bull (Bos primigenius indicus). (20445793)
2010
13
Spinal epidural lipomatosis: An unusual cause of relapsing and remitting paraparesis. (21559166)
2010
14
Congenital infiltrating lipomatosis. (19124289)
2009
15
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). (19215040)
2009
16
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
17
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
18
Synovial lipomatosis arborescens of the peroneal tendon sheath. (18682928)
2008
19
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
20
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. (18568254)
2008
21
Fat suppression imaging in epidural lipomatosis: case report. (17963658)
2007
22
Multiple lipomatosis--a rare cause for small bowel intussusception. (18157202)
2007
23
Lipomatous hypertrophy of the interatrial septum with cutaneous lipomatosis. (17527001)
2007
24
Spinal epidural lipomatosis caused by corticosteroid treatment in ulcerative colitis. (16490695)
2006
25
Cushing's syndrome with mediastinal lipomatosis. (15322612)
2004
26
Spinal epidural lipomatosis: a case study. (15366546)
2004
27
Lipoma arborescens (diffuse articular lipomatosis). (14577726)
2003
28
Infiltrating lipomatosis of the face: a case report and review of the literature. (12966488)
2003
29
Encephalocraniocutaneous lipomatosis syndrome in a child: association with multiple high flow cerebral arteriovenous fistulae. Case report and review. (20594485)
2002
30
Clinical picture: epidural lipomatosis. (11747940)
2001
31
Benign symmetric lipomatosis (Madelung's disease). (10854826)
2000
32
Lipomatosis of the parotid gland in a child. (11090329)
2000
33
The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis. (10519386)
1999
34
Diffuse intramuscular lipomatosis of a lower limb. (18521234)
1998
35
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
36
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
37
Co-existent renal replacement lipomatosis and pyelitis glandularis. (7959988)
1994
38
Encephalocraniocutaneous lipomatosis: case report and review of the literature. (8346113)
1993
39
Re: Pelvic lipomatosis associated with cystitis glandularis and adenocarcinoma of the bladder. (1569691)
1992
40
Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1. (1511984)
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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Expression patterns in normal tissues for genes affiliated with Lipomatosis

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Pathways for genes affiliated with Lipomatosis

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Pathways related to Lipomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6UCP1, PPARGC1A, HMGA1
29.6HMGA2, HMGA1, MEN1
3
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1PTEN, PRKAR1A, PIK3CA
4
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.9PPARGC1A, PIK3CA, PTEN, PRKAR1A
58.5PIK3CA, MEN1, HMGA1, PRKAR1A, PTEN
6
Show member pathways
8.2PPARGC1A, UCP1, COX5A, SDHB, PIK3CA
7
Show member pathways
6.5PTEN, GSR, UCP1, COX5A, CEL, PPARGC1A

Compounds for genes affiliated with Lipomatosis

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Compounds related to Lipomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1pgc14410.3UCP1, PPARGC1A
2thenoyltrifluoroacetone44 1111.3UCP1, SDHB
3dbds4410.2HMGA1, HMGA2
4hmga4410.2HMGA1, HMGA2
5ubiquinone449.8SDHB, UCP1, GSR
6rotenone449.8SDHB, UCP1, GSR
7rosiglitazone28 44 50 24 1113.4PPARGC1A, PIK3CA, PTEN, UCP1
8carnitine449.4UCP1, COX5A, PPARGC1A
9citrate449.3COX5A, SDHB, PPARGC1A
10aspartate449.2GSR, UCP1, PTEN, SDHB
11pyruvate449.2PPARGC1A, SDHB, COX5A, UCP1
12imatinib44 50 1111.2ACTC1, PTEN, PIK3CA
13glucose 6-phosphate44 2410.1SDHB, COX5A, GSR
14crcs449.1PIK3CA, PTEN, COX5A
15quercetin44 61 24 1112.1PIK3CA, PTEN, GSR
16linoleic acid28 44 2411.1PPARGC1A, CEL, COX5A, UCP1
17glycogen44 2410.0ACTC1, PTEN, SDHB, PIK3CA, PPARGC1A
18arsenite44 2410.0GSR, PTEN, PIK3CA
19cisplatin44 50 61 1112.0PIK3CA, PTEN, GSR, HMGA2
20ethanol44 50 24 1111.9SDHB, PTEN, CEL, COX5A
21testosterone44 61 24 1111.8PPARGC1A, PIK3CA, SDHB, PTEN, ACTC1, UCP1
22cyclic amp44 249.8PPARGC1A, PTEN, PRKAR1A, COX5A, UCP1
23hcec448.7COX5A, PIK3CA
24creatinine448.6SDHB, ACTC1, COX5A, GSR
25steroid448.6PPARGC1A, PIK3CA, PTEN, PRKAR1A, ACTC1, HMGA1
26nitric oxide44 24 1110.5PPARGC1A, PIK3CA, PTEN, COX5A, UCP1
27nadph44 249.5PIK3CA, SDHB, COX5A, GSR
28genistein44 28 61 2 24 1113.5GSR, COX5A, PTEN, PIK3CA
29lactate448.5GSR, COX5A, SDHB, PIK3CA
30progesterone44 28 61 24 1112.5PIK3CA, PTEN, ACTC1, COX5A, UCP1
31fatty acid448.4PPARGC1A, PTEN, CEL, COX5A, UCP1, HMGA1
32superoxide44 249.4GSR, UCP1, COX5A, SDHB, PIK3CA
33doxorubicin44 50 1110.4PIK3CA, PTEN, COX5A, GSR, HMGA2
34adenylate448.4PIK3CA, PRKAR1A, CEL, GSR
35tyrosine448.4PIK3CA, SDHB, PTEN, MEN1, ACTC1, UCP1
36atp44 289.3PPARGC1A, PIK3CA, SDHB, PTEN, COX5A, UCP1
37dexamethasone44 50 28 1111.3PPARGC1A, PIK3CA, PRKAR1A, ACTC1, COX5A
38cysteine448.3SDHB, PTEN, PRKAR1A, COX5A, UCP1, GSR
39glucose448.1PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A, ACTC1
40glutamate448.0GSR, UCP1, COX5A, PRKAR1A, SDHB, PIK3CA
41vegf447.9PPARGC1A, PIK3CA, SDHB, PTEN, MEN1, ACTC1
42retinoic acid44 248.7PPARGC1A, PIK3CA, PTEN, ACTC1, COX5A, UCP1
43h2o2447.7PIK3CA, SDHB, PTEN, CEL, COX5A, UCP1
44oxygen44 248.6PPARGC1A, SDHB, PTEN, CEL, ACTC1, COX5A
45cholesterol44 28 24 1110.6HMGA1, PPARGC1A, PIK3CA, SDHB, PTEN, CEL
46serine447.5PPARGC1A, PIK3CA, PTEN, CEL, MEN1, COX5A
47arginine447.4PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A, COX5A
48estrogen447.3PPARGC1A, PIK3CA, PTEN, MEN1, ACTC1, COX5A
49calcium44 50 24 1110.3PPARGC1A, PIK3CA, SDHB, PTEN, PRKAR1A, CEL
50lipid447.0PPARGC1A, PIK3CA, SDHB, PTEN, CEL, COX5A

GO Terms for genes affiliated with Lipomatosis

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet