MCID: LPM005
MIFTS: 52

Lipomatosis malady

Metabolic diseases category

Summaries for Lipomatosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 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. Affiliated tissues include tongue, thyroid and spinal cord, and related mouse phenotypes are adipose tissue and endocrine/exocrine gland.

Aliases & Classifications for Lipomatosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 25ICD10
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Classifications:

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


Aliases & Descriptions:

lipomatosis 8 10 44
benign symmetrical lipomatosis 60


External Ids:

Disease Ontology8 DOID:3153
MeSH34 D008068
SNOMED-CT56 402693001, 37095002
ICD1025 E88.2

Related Diseases for Lipomatosis

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

(show top 50)    (show all 190)
idRelated DiseaseScoreTop Affiliating Genes
1pelvic lipomatosis31.2HMGA1, HMGA2
2lipoma30.7UCP1, MEN1, HMGA1, HMGA2, PTEN
3pancreatitis30.4CEL
4obesity30.4UCP1, PPARGC1A, ACP1
5adenocarcinoma30.2MEN1, HMGA1, HMGA2, ACP1, ACTC1, PTEN
6myopathy30.0SDHB, COX5A
7lipodystrophy30.0HMGA2
8liposarcoma30.0HMGA2
9mitochondrial disorders29.9COX5A, MT-ATP6
10merrf syndrome29.7SDHB, COX5A
11astrocytoma29.7ACP1, PTEN
12lung cancer29.7PTEN, TXK
13noonan syndrome29.7COX5A, PPARGC1A, MT-ATP6, ACTC1
14diabetes mellitus29.7GSR, ACP1, PPARGC1A, UCP1
15pituitary adenoma29.7HMGA2, PRKAR1A, MEN1
16gastrointestinal stromal tumor29.7TXK, ACTC1, SDHB
17adenoma29.6COX5A, MEN1, PRKAR1A, HMGA1, HMGA2, ACTC1
18multiple symmetric lipomatosis10.8
19multiple symmetrical lipomatosis10.8
20diffuse lipomatosis10.6
21mediastinal lipomatosis10.6
22steroid lipomatosis10.5
23mediastinitis10.5
24madelung disease10.4
25proteus syndrome10.3
26encephalocraniocutaneous lipomatosis10.3
27cystitis10.3
28thyroiditis10.3
29xanthogranulomatous pyelonephritis10.2
30pyelonephritis10.2
31pancreatic lipomatosis duodenal stenosis10.2
32roch-leri mesosomatous lipomatosis10.2
33ureteral obstruction10.2
34intussusception10.2
35neuropathy10.2
36shwachman-diamond syndrome10.2
37cauda equina syndrome10.1
38adiposis dolorosa10.1
39paraplegia10.1
40cerebritis10.0
41cushing's syndrome10.0
42bladder adenocarcinoma10.0
43laryngitis10.0
44hemihyperplasia-multiple lipomatosis syndrome10.0
45carney triad10.0SDHB
46pleomorphic adenoma10.0HMGA2
47parkinson's disease10.0PTEN
48retinoblastoma10.0MEN1
49kearns-sayre syndrome10.0COX5A
50paraganglioma10.0SDHB, MEN1

Graphical network of the top 20 diseases related to Lipomatosis:



Diseases related to lipomatosis

Clinical Features for Lipomatosis

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Drugs & Therapeutics for Lipomatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Lipomatosis

Drug clinical trials:

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Search NIH Clinical Center for Lipomatosis

Search CenterWatch for Lipomatosis

Genetic Tests for Lipomatosis

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Anatomical Context for Lipomatosis

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32MalaCards
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MalaCards organs/tissues related to Lipomatosis:

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

Animal Models for Lipomatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lipomatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8UCP1, PPARGC1A, PRKAR1A, HMGA2, PTEN, CEL
2MP:00053798.8PPARGC1A, MEN1, HMGA1, HMGA2, RFX6
3MP:00053818.6RFX6, CEL, PTEN, PRKAR1A, MEN1, PPARGC1A
4MP:00053857.8UCP1, PPARGC1A, MEN1, PRKAR1A, HMGA1, ACTC1
5MP:00053767.0UCP1, PPARGC1A, MEN1, PRKAR1A, HMGA1, HMGA2
6MP:00053787.0RFX6, UCP1, PPARGC1A, MEN1, PRKAR1A, HMGA1

Publications for Lipomatosis

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50PubMed
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Articles related to Lipomatosis:

(show top 50)    (show all 681)
idTitleAuthorsYear
1
Encephalocraniocutaneous lipomatosis: magnetic resonance imaging findings in a child. (23452587)
2013
2
Giant hairy 'Bathing trunk' nevus with multiple satellite nevi & lipomatosis. (23563387)
2013
3
Spontaneous resolution of spinal epidural lipomatosis. (23726369)
2013
4
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. (23524250)
2013
5
Spinal subdural hematoma mimicking epidural lipomatosis. (23037565)
2012
6
Transaortic aortic valve implantation: an alternative treatment option in a patient with lipomatosis of the heart. (23143164)
2012
7
Pelvic lipomatosis: US and CT diagnosis. (22970068)
2012
8
Severe thoracic restriction due to intra-abdominal lipomatosis. (21765034)
2011
9
Steroid induced spinal epidural lipomatosis--case report and review of the literature. (21902101)
2011
10
Diffuse colonic lipomatosis, presenting as perforation peritonitis and mimicking carcinoma colon. (22468069)
2011
11
Laryngeal lipoma associated with diffuse lipomatosis: case report and literature review. (20155698)
2010
12
Sick sinus syndrome in a patient with extensive cardiac lipomatosis (sinus node dysfunction in lipomatosis). (19793369)
2010
13
Familial multiple lipomatosis: a case report. (20306922)
2010
14
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
15
The Y-sign in spinal epidural lipomatosis. (19803112)
2009
16
Multiple intraosseous lipomatosis: a case report. (19829952)
2009
17
Multiple lipomatosis--a rare cause for small bowel intussusception. (18157202)
2007
18
Decompression of idiopathic symptomatic epidural lipomatosis of the lumbar spine. (17681857)
2007
19
Eyelid lymphoma in a patient with multiple lipomatosis. (16778824)
2007
20
Spinal epidural lipomatosis in myeloma. (17852706)
2007
21
Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions. (17182368)
2006
22
Management of cervicothoracic spinal lipomatosis and rapidly progressive neurologic symptoms. (16924868)
2006
23
CT findings of pelvic lipomatosis of nerve. (15728036)
2005
24
Xanthogranulomatous pyelonephritis with nephrocutanous fistula and coexisting renal replacement lipomatosis: the report of a rare case. (16153545)
2005
25
Lipoma arborescens (diffuse articular lipomatosis). (14577726)
2003
26
Images in clinical medicine. Epidural lipomatosis causing spinal cord compression. (14534350)
2003
27
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
28
Familial multiple lipomatosis. (14594582)
2003
29
Adenomyomatosis with marked subserosal fibrosis and lipomatosis of the gallbladder: mural stratification demonstrated with MR. (16082134)
2002
30
Facial infiltrating lipomatosis. (11711926)
2001
31
Spinal epidural lipomatosis. (11486570)
2001
32
Benign symmetrical lipomatosis--one cutaneous manifestation of alcoholism. (10490308)
1999
33
Lipomatosis due to chronic steroid therapy. (10558449)
1999
34
Symptomatic spinal epidural lipomatosis after local epidural corticosteroid injections: case report. (10414580)
1999
35
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
36
Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report. (10222605)
1999
37
Pathological case of the month. Synovial lipomatosis. (9988254)
1999
38
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis. (9879833)
1998
39
Abdominal lipomatosis attributed to tall fescue toxicosis in deer. (9861975)
1998
40
Idiopathic spinal epidural lipomatosis. (9689334)
1998
41
Familial multiple symmetric lipomatosis with peripheral neuropathy. (2166247)
1990
42
Encephalocraniocutaneous lipomatosis. (3611632)
1987
43
Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan. (3897999)
1985
44
Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome. (6744991)
1984
45
Pelvic lipomatosis. (7416633)
1980
46
Adipocyte adenylate cyclase and alpha- and beta-adrenergic receptors in one case of multiple symmetric lipomatosis. (6256016)
1980
47
Bilateral ureteric obstruction caused by benign pelvic lipomatosis. (5007675)
1972
48
Deformity and elevation of the bladder owing to pelvic lipomatosis compared with impressions in the bladder caused by large glands. (5066976)
1972
49
Pelvic lipomatosis causing urinary obstruction. (5552151)
1971
50
Mediastinal lipomatosis secondary to steroid therapy. (5925119)
1966

Genetic Variations for Lipomatosis

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Expression for genes affiliated with Lipomatosis

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Lipomatosis

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44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Lipomatosis according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1pgc14410.4UCP1, PPARGC1A
2thenoyltrifluoroacetone44 1111.3SDHB, UCP1
3dbds4410.3HMGA1, HMGA2
4hmga4410.3HMGA1, HMGA2
5glutamate4410.2PRKAR1A, UCP1
6dexamethasone44 49 28 1113.0ACP1
7ubiquinone449.9SDHB, GSR, UCP1
8glucose 6-phosphate44 2410.9COX5A, SDHB
9rotenone449.9SDHB, GSR, UCP1
10rosiglitazone44 49 28 11 2413.8PTEN, PPARGC1A, UCP1
11glucose449.7UCP1, ACTC1, PTEN, SDHB
12carnitine449.7PPARGC1A, UCP1, COX5A
13steroid449.6PPARGC1A, PRKAR1A, ACTC1
14pyruvate449.6COX5A, UCP1, PPARGC1A, SDHB
15linoleic acid44 28 2411.6COX5A, UCP1, PPARGC1A, CEL
16glycogen44 2410.4PPARGC1A, ACTC1, PTEN, SDHB
17testosterone44 59 11 2412.4UCP1, PPARGC1A, ACTC1, PTEN, SDHB
18ethanol44 49 11 2412.4SDHB, CEL, PTEN, COX5A
19norepinephrine44 11 2411.3SDHB, ACP1, PPARGC1A, UCP1
20nadh44 11 2411.3COX5A, MT-ATP6, GSR, SDHB
21citrate449.2COX5A, PPARGC1A, SDHB
22salicylic acid44 2810.1ACP1, TXK, COX5A
23cyclic amp44 2410.1COX5A, UCP1, PPARGC1A, PRKAR1A, PTEN
24atp44 2810.0COX5A, UCP1, PPARGC1A, MT-ATP6, PTEN, SDHB
25fatty acid449.0COX5A, UCP1, PPARGC1A, HMGA1, PTEN, CEL
26aspartate449.0UCP1, ACP1, PTEN, GSR, SDHB
27ascorbic acid44 249.9COX5A, ACP1, GSR, SDHB
28cholesterol44 28 11 2411.8COX5A, UCP1, PPARGC1A, HMGA1, PTEN, CEL
29doxorubicin44 49 1110.8COX5A, HMGA2, ACP1, PTEN, GSR
30alanine448.6SDHB, GSR, PTEN, ACP1, UCP1
31genistein44 28 59 2 11 2413.6COX5A, ACP1, PTEN, GSR
32nadph44 249.5SDHB, GSR, ACP1, COX5A
33vegf448.3COX5A, PPARGC1A, MEN1, ACP1, ACTC1, PTEN
34lipid448.3COX5A, UCP1, PPARGC1A, HMGA1, PTEN, CEL
35h2o2448.2COX5A, UCP1, ACP1, PTEN, CEL, GSR
36retinoic acid44 249.1COX5A, UCP1, PPARGC1A, HMGA1, HMGA2, ACP1
37cysteine448.1COX5A, UCP1, PRKAR1A, ACP1, PTEN, GSR
38serine448.1COX5A, UCP1, PPARGC1A, MEN1, HMGA1, ACP1
39tyrosine448.0TXK, UCP1, MEN1, HMGA1, ACP1, ACTC1
40arginine447.8COX5A, PPARGC1A, PRKAR1A, HMGA1, ACP1, PTEN
41calcium44 49 11 2410.7TXK, UCP1, PPARGC1A, MEN1, PRKAR1A, HMGA1
42oxygen44 248.4SDHB, COX5A, UCP1, PPARGC1A, MT-ATP6, ACP1

GO Terms for genes affiliated with Lipomatosis

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

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

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:0466219.6PTEN, MEN1
5cellular metabolic processGO:0442379.5SDHB, UCP1, COX5A
6respiratory electron transport chainGO:0229049.4SDHB, PPARGC1A, UCP1, COX5A
7small molecule metabolic processGO:0442817.9COX5A, UCP1, PRKAR1A, PTEN, CEL, GSR

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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet