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, spinal cord and thyroid, 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:

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Drug clinical trials:

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Search NIH Clinical Center for Lipomatosis

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

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, CEL, PTEN
2MP:00053798.8MEN1, HMGA1, RFX6, HMGA2, PPARGC1A
3MP:00053818.6RFX6, PTEN, PRKAR1A, PPARGC1A, MEN1, CEL
4MP:00053857.8PTEN, ACTC1, HMGA1, PRKAR1A, PPARGC1A, MEN1
5MP:00053767.0SPIC, PTEN, ACTC1, HMGA2, PPARGC1A, PRKAR1A
6MP:00053787.0PTEN, 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
Lipomatosis of the sciatic nerve secondary to compression by a desmoid tumor. (23801100)
2013
2
Renal replacement lipomatosis with coexistent papillary renal cell carcinoma, renal tubulopapillary adenomatosis, and xanthogranulomatous pyelonephritis: an extremely rare association and possible pathogenetic correlation. (23801477)
2013
3
Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A case report and review of literature. (23723477)
2013
4
Insulin sensitivity in Familial Multiple Lipomatosis. (23893194)
2013
5
Two Cases of Hemihyperplasia-Multiple Lipomatosis Syndrome and Review of Asymmetric Hemihyperplasia Syndromes. (23458125)
2013
6
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
7
Bowel obstruction with intestinal lipomatosis. (21968164)
2012
8
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. (22441442)
2012
9
Jejuno-jejunal intussusception secondary to small-bowel lipomatosis: a case report. (22622102)
2012
10
Lipomatosis of interventricular septum and both ventricles: an extremely rare pattern. (21183506)
2011
11
Symptomatic spinal epidural lipomatosis with severe obesity at a young age. (21667917)
2011
12
Expression of a truncated Hmga1b gene induces gigantism, lipomatosis and B-cell lymphomas in mice. (21044834)
2011
13
Facial infiltrating lipomatosis: physical, radiological, and histopathological findings. (20231652)
2010
14
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. (20859836)
2010
15
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. (18568254)
2008
16
Lipomatous hypertrophy of the interatrial septum with cutaneous lipomatosis. (17527001)
2007
17
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. (17392703)
2007
18
Lipomatosis of the ileocecal valve treated with right hemicolectomy as the consequence of an incomplete diagnostic procedure. (17676259)
2007
19
Epidural lipomatosis. (17933325)
2007
20
Is epidural lipomatosis associated with abnormality of body fat distribution? A case report. (16007467)
2006
21
Madelung syndrome (benign lipomatosis): clinical course and treatment. (15370808)
2004
22
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. (15124898)
2004
23
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
24
Diffuse abdominal lipomatosis. (15266937)
2003
25
Cauda equina syndrome secondary to idiopathic spinal epidural lipomatosis. (11224868)
2001
26
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
27
Are 'buffalo hump' syndrome, Madelung's disease and multiple symmetrical lipomatosis variants of the same dysmetabolism? (11216947)
2001
28
Lipomatosis of the parotid gland in a child. (11090329)
2000
29
Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. (10766980)
2000
30
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
31
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (10749983)
2000
32
Diffuse lipomatosis of thyroid gland. (10214903)
1999
33
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
34
Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. (8857737)
1996
35
Pelvic lipomatosis: a review of its diagnosis and management. (1856914)
1991
36
Pelvic lipomatosis: 35-year experience. (3361678)
1988
37
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
38
Lymphomatous meningitis and steroid-induced epidural lipomatosis: CT evaluation. (3872895)
1985
39
Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors. (3859613)
1985
40
Vesical adenocarcinoma occurring in patient with pelvic lipomatosis. (7361359)
1980
41
Ultrasonographic features of pelvic lipomatosis. (554371)
1979-1980
42
Ultrasonic findings in pelvic lipomatosis. (472856)
1979
43
Computed tomography and ultrasound in diagnosis of pelvic lipomatosis. (516220)
1979
44
Pelvic lipomatosis. (622692)
1978
45
Encephalocraniocutaneous lipomatosis. (662483)
1978
46
Pelvic lipomatosis. (16842)
1977
47
Pelvic lipomatosis: a rare cause of suprapubic mass. (4695094)
1973
48
Pelvic lipomatosis. (4769523)
1973
49
Pelvic lipomatosis. Report of three cases. (4508569)
1972
50
Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. (5665293)
1968

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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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Lipomatosis

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

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:0359859.7HMGA1, 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

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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