MCID: LPM005
MIFTS: 45

Lipomatosis malady

Metabolic category

Summaries for Lipomatosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 adenocarcinoma. An important gene associated with Lipomatosis is HMGA2 (high mobility group AT-hook 2), and among its related pathways are Adipogenesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds pgc1 and thenoyltrifluoroacetone have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and endocrine/exocrine gland.

Aliases & Classifications for Lipomatosis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 25ICD10
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Classifications:

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


Aliases & Descriptions:

lipomatosis 8 10 45
benign symmetrical lipomatosis 61


External Ids:

Disease Ontology8 DOID:3153
MeSH35 D008068
SNOMED-CT57 402693001, 37095002
ICD1025 E88.2

Related Diseases for Lipomatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 lipomatosis31.3HMGA2, HMGA1
2adenocarcinoma30.3HMGA1, PTEN, CEL, ACP1, HMGA2, MEN1
3adenoma29.9COX5A, MEN1, ACTC1, PRKAR1A, GSR, HMGA1
4merrf syndrome29.7SDHB, COX5A
5astrocytoma29.7PTEN, ACP1
6noonan syndrome29.7COX5A, PPARGC1A, ACTC1, MT-ATP6
7multiple endocrine neoplasia29.7MEN1, PRKAR1A, SDHB
8gastrointestinal stromal tumor29.7SDHB, ACTC1, TXK
9multiple symmetric lipomatosis10.8
10encephalocraniocutaneous lipomatosis10.8
11madelung disease10.6
12diffuse lipomatosis10.6
13mediastinal lipomatosis10.6
14steroid lipomatosis10.6
15infiltrating lipoma10.6
16lip disease10.6
17multiple symmetrical lipomatosis10.5
18n syndrome10.5
19proteus syndrome10.3
20glandular cystitis10.2
21spinal cord lipoma10.2
22hemihyperplasia-multiple lipomatosis syndrome10.2
23xanthogranulomatous pyelonephritis10.2
24kidney lipoma10.2
25pancreatic lipomatosis duodenal stenosis10.2
26intussusception10.2
27shwachman-diamond syndrome10.2
28roch-leri mesosomatous lipomatosis10.2
29lumbosacral lipoma10.1
30cauda equina syndrome10.1
31liver lipoma10.1
32oculocerebrocutaneous syndrome10.1
33hemimegalencephaly10.1
34cushing's syndrome10.1
35adiposis dolorosa10.1
36bladder adenocarcinoma10.1
37desmoid tumor10.1
38gigantism10.1
39hemihypertrophy10.1
40carney triad10.0SDHB
41pancreatitis10.0CEL
42pleomorphic adenoma10.0HMGA2
43parkinson's disease10.0PTEN
44retinoblastoma10.0MEN1
45kearns-sayre syndrome10.0COX5A
46myopathy10.0COX5A, SDHB
47paraganglioma10.0SDHB, MEN1
48hyperglycemia10.0ACP1, PPARGC1A
49dermatofibrosarcoma protuberans10.0ACTC1
50papilloma10.0ACTC1

Graphical network of the top 20 diseases related to Lipomatosis:



Diseases related to lipomatosis

Clinical Features for Lipomatosis

Drugs & Therapeutics for Lipomatosis

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

Search CenterWatch for Lipomatosis

Drug clinical trials:

Search ClinicalTrials for Lipomatosis

Search NIH Clinical Center for Lipomatosis

Search CenterWatch for Lipomatosis

Genetic Tests for Lipomatosis

Anatomical Context for Lipomatosis

Animal Models for Lipomatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Lipomatosis

Sources:
51PubMed
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Articles related to Lipomatosis:

(show top 50)    (show all 681)
idTitleAuthorsYear
1
An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL). (23819449)
2013
2
Surgical management of bilateral parotid lipomatosis in a patient with HIV. (22848004)
2013
3
Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. (23942743)
2013
4
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
5
Giant nevus lipomatosus cutaneous superficialis with intramuscular lipomatosis. (22980286)
2012
6
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. (22075714)
2012
7
Corticosteroid-induced spinal epidural lipomatosis in the pediatric age group: report of a new case and updated analysis of the literature. (21284882)
2011
8
Sudden paraplegia following epidural lipomatosis and thoracal compression fracture after long-term steroid therapy: a case report. (20012627)
2011
9
Case 175: Testicular lipomatosis in Cowden disease. (22012908)
2011
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
Lipomatosis: an unusual side-effect of cytotoxic chemotherapy? (20526554)
2010
13
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
2009
14
Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care. (19058713)
2008
15
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
16
Fat suppression imaging in epidural lipomatosis: case report. (17963658)
2007
17
Atypical mediastinal lipomatosis. (17509429)
2007
18
Multiple cardiac lipomas and pericardial lipomatosis: multidedector-row computer tomography findings. (17061026)
2007
19
Reconstruction of the right atrium with pulmonary artery homograft after resection of right atrial lipomatosis. (17848399)
2007
20
Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. (17258481)
2007
21
Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement. (16445407)
2006
22
Renal replacement lipomatosis. (16837809)
2006
23
Mandibular osteoma in the encephalocraniocutaneous lipomatosis. (15975807)
2005
24
Infantile congenital parotid lipomatosis: a rare case report. (16150326)
2005
25
Spinal epidural lipomatosis in children with renal diseases receiving steroid therapy. (15627168)
2005
26
Epidural spinal lipomatosis with acute onset of paraplegia in an HIV-positive patient treated with corticosteroids and protease inhibitor: case report. (16135977)
2005
27
Spinal epidural lipomatosis: a case study. (15366546)
2004
28
Spinal epidural lipomatosis: a review of its causes and recommendations for treatment. (15191340)
2004
29
The importance of re-evaluation in patients with cystitis glandularis associated with pelvic lipomatosis: a case report. (15464926)
2004
30
Benign symmetric lipomatosis in a 73-year-old man: a case report with a brief review of the literature. (15624498)
2004
31
Lipomatosis of the parotid gland in children. (12939681)
2003
32
Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. (12823300)
2003
33
Encephalocraniocutaneous lipomatosis: case report and review of the literature. (12792489)
2003
34
Epidural lipomatosis secondary to indinavir in an HIV-positive patient. (11852297)
2002
35
Spinal epidural lipomatosis associated with Paget's disease of bone. (12389138)
2002
36
Extensive mediastinal lipomatosis in a patient with severe aortic valve stenosis. (11888787)
2002
37
Mediastinal lipomatosis and exogenous steroids. (12187610)
2002
38
Assessment of right ventricular lipomatosis by histomorphometry in control adult autopsy cases. (11724427)
2001
39
Epidural lipomatosis. (10622792)
2000
40
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
41
Achondroplasia associated with pelvic lipomatosis. (10459944)
1999
42
Multiple lipomatosis in a patient with familial atypical mole syndrome. (9990390)
1998
43
Cytogenetic findings in crossed renal ectopia with pelvic lipomatosis. (8370589)
1993
44
Multiple symmetrical lipomatosis. (1521476)
1992
45
Multiple symmetric lipomatosis. (1723235)
1991
46
Pelvic lipomatosis. (2070217)
1991
47
Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. (2699567)
1989
48
Computed tomography of deep fat masses in multiple symmetrical lipomatosis. (7089242)
1982
49
Pelvic lipomatosis. (1141763)
1975
50
Carcinoma of the prostate presenting as pelvic lipomatosis. (5020544)
1972

Genetic Variations for Lipomatosis

Expression for genes affiliated with Lipomatosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Lipomatosis

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Lipomatosis according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1pgc14510.4PPARGC1A, UCP1
2thenoyltrifluoroacetone45 1111.3UCP1, SDHB
3dbds4510.3HMGA1, HMGA2
4hmga4510.3HMGA1, HMGA2
5glutamate4510.2PRKAR1A, UCP1
6dexamethasone45 50 29 1113.0ACP1
7ubiquinone459.9SDHB, GSR, UCP1
8glucose 6-phosphate45 2410.9COX5A, SDHB
9rotenone459.9SDHB, UCP1, GSR
10rosiglitazone45 50 29 11 2413.8UCP1, PTEN, PPARGC1A
11glucose459.7ACTC1, SDHB, PTEN, UCP1
12carnitine459.7PPARGC1A, UCP1, COX5A
13steroid459.6ACTC1, PPARGC1A, PRKAR1A
14pyruvate459.6SDHB, UCP1, COX5A, PPARGC1A
15linoleic acid45 29 2411.6PPARGC1A, CEL, UCP1, COX5A
16glycogen45 2410.4PPARGC1A, ACTC1, PTEN, SDHB
17testosterone45 60 11 2412.4ACTC1, SDHB, UCP1, PTEN, PPARGC1A
18ethanol45 50 11 2412.4COX5A, SDHB, CEL, PTEN
19norepinephrine45 11 2411.3SDHB, ACP1, PPARGC1A, UCP1
20nadh45 11 2411.3MT-ATP6, COX5A, GSR, SDHB
21citrate459.2SDHB, PPARGC1A, COX5A
22salicylic acid45 2910.1COX5A, TXK, ACP1
23cyclic amp45 2410.1UCP1, PPARGC1A, PRKAR1A, PTEN, COX5A
24atp45 2910.0COX5A, PTEN, SDHB, MT-ATP6, PPARGC1A, UCP1
25fatty acid459.0PPARGC1A, UCP1, COX5A, HMGA1, PTEN, CEL
26aspartate459.0ACP1, SDHB, GSR, PTEN, UCP1
27ascorbic acid45 249.9SDHB, GSR, COX5A, ACP1
28cholesterol45 29 11 2411.8HMGA1, UCP1, COX5A, PPARGC1A, CEL, SDHB
29doxorubicin45 50 1110.8PTEN, ACP1, HMGA2, COX5A, GSR
30alanine458.6GSR, SDHB, UCP1, PTEN, ACP1
31genistein45 29 60 2 11 2413.6COX5A, ACP1, PTEN, GSR
32nadph45 249.5COX5A, GSR, SDHB, ACP1
33vegf458.3COX5A, ACTC1, ACP1, MEN1, PPARGC1A, PTEN
34lipid458.3PTEN, PPARGC1A, UCP1, COX5A, HMGA1, SDHB
35h2o2458.2CEL, PTEN, SDHB, GSR, COX5A, UCP1
36retinoic acid45 249.1HMGA2, PPARGC1A, PTEN, COX5A, HMGA1, ACTC1
37cysteine458.1COX5A, ACP1, PTEN, GSR, SDHB, UCP1
38serine458.1PPARGC1A, HMGA1, COX5A, ACP1, PTEN, CEL
39tyrosine458.0HMGA1, UCP1, TXK, ACTC1, PTEN, SDHB
40arginine457.8COX5A, PPARGC1A, PRKAR1A, HMGA1, ACP1, PTEN
41calcium45 50 11 2410.7PTEN, ACTC1, HMGA1, PPARGC1A, TXK, UCP1
42oxygen45 248.4ACP1, COX5A, PPARGC1A, PTEN, MT-ATP6, UCP1

GO Terms for genes affiliated with Lipomatosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Lipomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1senescence-associated heterochromatin focusGO:0359859.7HMGA1, HMGA2
2cytosolGO:0058297.8PPARGC1A, MEN1, PRKAR1A, HMGA1, ACTC1, PTEN

Biological processes related to Lipomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oncogene-induced cell senescenceGO:09040210.1HMGA2, HMGA1
2senescence-associated heterochromatin focus assemblyGO:03598610.0HMGA1, HMGA2
3positive regulation of cellular senescenceGO:200077410.0HMGA2, HMGA1
4negative regulation of organ growthGO:0466219.6MEN1, PTEN
5cellular metabolic processGO:0442379.5COX5A, UCP1, SDHB
6respiratory electron transport chainGO:0229049.4SDHB, PPARGC1A, UCP1, COX5A
7small molecule metabolic processGO:0442817.9GSR, CEL, COX5A, UCP1, PRKAR1A, PTEN

Molecular functions related to Lipomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-(apurinic or apyrimidinic site) lyase activityGO:00390610.0HMGA2, HMGA1
25-deoxyribose-5-phosphate lyase activityGO:0515759.9HMGA2, HMGA1
3AT DNA bindingGO:0036809.7HMGA2, HMGA1

Products for genes affiliated with Lipomatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipomatosis

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