MCID: MLT012
MIFTS: 43

Multiple Symmetric Lipomatosis malady

Genetic diseases category

Summaries for Multiple Symmetric Lipomatosis

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46OMIM, 32MalaCards
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MalaCards: Multiple Symmetric Lipomatosis, also known as lipomatosis, familial benign cervical, is related to lipomatosis and obesity. An important gene associated with Multiple Symmetric Lipomatosis is MT-ATP6 (mitochondrially encoded ATP synthase 6), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds thenoyltrifluoroacetone and ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include adipocyte and thyroid.

Description from OMIM:46 151800

Aliases & Classifications for Multiple Symmetric Lipomatosis

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Sources:
8Disease Ontology, 22GTR, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM
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Classifications:

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


Aliases & Descriptions:

multiple symmetric lipomatosis 8
lipomatosis, familial benign cervical 8 22 60
lipomatosis, multiple symmetrical 60
cervical symmetrical lipomatosis 8
lipomatosis, multiple symmetric 44
lipodystrophy, cephalothoracic 8
launois-bensaude's lipomatosis 8
benign symmetrical lipomatosis 60
madelung's neck 8


External Ids:

Disease Ontology8 DOID:14116
NCIt39 C4392
MeSH34 D008069
OMIM46 151800

Related Diseases for Multiple Symmetric Lipomatosis

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1lipomatosis31.7UCP1
2obesity30.7ACP1, PPARGC1A, UCP1
3myopathy30.5COX5A, SDHB
4merrf syndrome30.2SDHB, COX5A
5mitochondrial disorders30.2COX5A, MT-ATP6
6diabetes mellitus30.2UCP1, PPARGC1A, ACP1
7multiple symmetrical lipomatosis11.2
8neuropathy10.5
9madelung disease10.4
10laryngitis10.3
11axonal neuropathy10.2
12bullous pemphigoid10.2
13alcohol abuse10.2
14atopic dermatitis10.2
15pellagra10.2
16dermatitis10.2
17tongue disease10.2
18barraquer-simons syndrome10.2
19alcoholic neuropathy10.2
20autonomic neuropathy10.2
21lipoma10.2
22mitochondrial encephalomyopathy10.2
23peripheral neuropathy10.2
24polyneuropathy10.2
25thyroiditis10.2
26prostate cancer10.0ACP1
27kearns-sayre syndrome10.0COX5A
28ovarian cancer10.0ACP1
29alzheimer's disease10.0COX5A
30deficiency anemia10.0COX5A
31neurofibromatosis10.0SDHB, ACP1
32early myoclonic encephalopathy10.0SDHB, COX5A
33hyperglycemia10.0ACP1, PPARGC1A
34lactic acidosis10.0SDHB, COX5A
35glucose intolerance10.0ACP1, PPARGC1A
36ischemia10.0COX5A, SDHB
37familial hyperlipidemia10.0PPARGC1A, UCP1
38metabolic syndrome x10.0UCP1, PPARGC1A, ACP1
39pheochromocytoma10.0SDHB, UCP1, ACP1
40brain disease10.0SDHB, COX5A
41leigh disease10.0MT-ATP6, SDHB, COX5A
42noonan syndrome10.0PPARGC1A, COX5A, MT-ATP6
43prion disease10.0COX5A, PPARGC1A
44type 2 diabetes mellitus10.0ACP1, UCP1, SDHB, PPARGC1A
45hypertrophy of breast10.0SDHB, UCP1, PPARGC1A, ACP1
46atherosclerosis10.0COX5A, UCP1, PPARGC1A, ACP1

Graphical network of the top 20 diseases related to Multiple Symmetric Lipomatosis:



Diseases related to multiple symmetric lipomatosis

Clinical Features for Multiple Symmetric Lipomatosis

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46OMIM
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Clinical features from OMIM:

151800

Drugs & Therapeutics for Multiple Symmetric Lipomatosis

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

Search CenterWatch for Multiple Symmetric Lipomatosis

Drug clinical trials:

Search ClinicalTrials for Multiple Symmetric Lipomatosis

Search NIH Clinical Center for Multiple Symmetric Lipomatosis

Search CenterWatch for Multiple Symmetric Lipomatosis

Genetic Tests for Multiple Symmetric Lipomatosis

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22GTR
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Genetic tests related to Multiple Symmetric Lipomatosis:

id Genetic test Affiliating Genes
1 Lipomatosis Familial Benign Cervical22

Anatomical Context for Multiple Symmetric Lipomatosis

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32MalaCards
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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

32
Adipocyte, Thyroid

Animal Models for Multiple Symmetric Lipomatosis or affiliated genes

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Publications for Multiple Symmetric Lipomatosis

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50PubMed
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Articles related to Multiple Symmetric Lipomatosis:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
2
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
3
Multiple benign symmetric lipomatosis -- a differential diagnosis of obesity. (23958107)
2013
4
Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. (23657050)
2013
5
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. (23524250)
2013
6
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
7
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
8
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
9
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. (21764493)
2011
10
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. (20190488)
2010
11
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
12
Progressive myopathy with multiple symmetric lipomatosis. (20008669)
2009
13
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. (20048140)
2009
14
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
15
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
16
Multiple benign symmetric lipomatosis--a differential diagnosis of obesity. Is there a rationale for fibrate treatment? (18528737)
2008
17
Total and regional body composition and energy expenditure in multiple symmetric lipomatosis. (15896422)
2005
18
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
19
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
20
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
21
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
22
Are 'buffalo hump' syndrome, Madelung's disease and multiple symmetrical lipomatosis variants of the same dysmetabolism? (11216947)
2001
23
Ultrasound, CT and MRI in patients with multiple symmetric lipomatosis. (10650121)
2000
24
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
25
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
26
Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report. (10222605)
1999
27
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
28
Multiple symmetric lipomatosis in the Chinese: ultrasound, CT and MR imaging. (9867274)
1998
29
MR of laryngeal and scrotal involvement in multiple symmetrical lipomatosis. (9228115)
1997
30
Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis. (9179155)
1997
31
Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. (8857737)
1996
32
Multiple symmetrical lipomatosis (Madelung's disease): a case report. (8915118)
1996
33
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
34
Neurological multisystem manifestation in multiple symmetric lipomatosis: a clinical and electrophysiological study. (7783758)
1995
35
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. (8190288)
1994
36
Mitochondrial respiratory function in multiple symmetrical lipomatosis: report of two cases. (7858441)
1994
37
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
38
Multiple symmetric lipomatosis (Launois-Bensaude syndrome). (1559745)
1992
39
Multiple symmetric lipomatosis: combined surgical treatment and liposuction. Case report. (1626219)
1992
40
Multiple symmetric lipomatosis. (1723235)
1991
41
Mitochondrial dysfunction in multiple symmetrical lipomatosis. (1650162)
1991
42
Familial multiple symmetric lipomatosis with peripheral neuropathy. (2166247)
1990
43
A case of multiple symmetric lipomatosis (Madelung's disease). (2690720)
1989
44
Multiple symmetric lipomatosis. (3267365)
1988
45
Multiple symmetric lipomatosis: treatment with liposuction. (3346417)
1988
46
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
47
Ultrastructural features of cultured mature adipocyte precursors from adipose tissue in multiple symmetric lipomatosis. (6670139)
1983
48
Metabolic abnormalities in multiple symmetric lipomatosis: elevated lipoprotein lipase activity in adipose tissue with hyperalphalipoproteinemia. (6875381)
1983
49
Adrenergic regulation of fat-cell lipolysis in multiple symmetric lipomatosis. (6129978)
1982
50
Multiple symmetric lipomatosis. A defect in adrenergic stimulated lipolysis II. (6250168)
1980

Genetic Variations for Multiple Symmetric Lipomatosis

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Expression for genes affiliated with Multiple Symmetric Lipomatosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Symmetric Lipomatosis

Search GEO for disease gene expression data for Multiple Symmetric Lipomatosis.

Pathways for genes affiliated with Multiple Symmetric Lipomatosis

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

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

(show all 39)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.9SDHB, UCP1
2ubiquinone449.8UCP1, SDHB
3rotenone449.8SDHB, UCP1
4pgc1449.8PPARGC1A, UCP1
5trolox449.5COX5A, ACP1
6diphenyleneiodonium449.4ACP1, COX5A
7malate449.4COX5A, SDHB
8palmitate449.4PPARGC1A, UCP1
9prostaglandin f2alpha449.4ACP1, COX5A
10salicylic acid44 2810.4ACP1, COX5A
11succinate449.3COX5A, SDHB
12acetaminophen44 2 49 11 2413.3SDHB, COX5A
13zidovudine44 1110.3UCP1, COX5A
14aspartate449.2SDHB, ACP1, UCP1
15catecholamine449.2SDHB, UCP1
16glucose 6-phosphate44 2410.1SDHB, COX5A
17nadh44 11 2411.1COX5A, MT-ATP6, SDHB
18carnitine449.0COX5A, UCP1, PPARGC1A
19linoleic acid44 28 2411.0PPARGC1A, UCP1, COX5A
20ascorbic acid44 2410.0SDHB, ACP1, COX5A
21superoxide44 2410.0SDHB, UCP1, COX5A
22nadph44 249.9SDHB, ACP1, COX5A
23citrate448.9COX5A, PPARGC1A, SDHB
24fatty acid448.9COX5A, UCP1, PPARGC1A
25testosterone44 59 11 2411.8UCP1, PPARGC1A, SDHB
26norepinephrine44 11 2410.8SDHB, ACP1, PPARGC1A, UCP1
27cyclic amp44 249.8PPARGC1A, UCP1, COX5A
28h2o2448.5SDHB, ACP1, UCP1, COX5A
29glutamate448.5SDHB, ACP1, UCP1, COX5A
30cysteine448.5SDHB, ACP1, UCP1, COX5A
31pyruvate448.5COX5A, UCP1, PPARGC1A, SDHB
32cholesterol44 28 11 2411.4COX5A, UCP1, PPARGC1A, SDHB
33retinoic acid44 249.4COX5A, UCP1, PPARGC1A, ACP1
34lipid448.4COX5A, UCP1, PPARGC1A, SDHB
35vegf448.4SDHB, ACP1, PPARGC1A, COX5A
36arginine448.4COX5A, PPARGC1A, ACP1, SDHB
37serine448.2COX5A, UCP1, PPARGC1A, ACP1
38atp44 289.1COX5A, UCP1, PPARGC1A, MT-ATP6, SDHB
39oxygen44 248.5SDHB, ACP1, MT-ATP6, PPARGC1A, UCP1, COX5A

GO Terms for genes affiliated with Multiple Symmetric Lipomatosis

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.7SDHB, UCP1, COX5A

Biological processes related to Multiple Symmetric Lipomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:0508739.4PPARGC1A, UCP1
2cellular metabolic processGO:0442378.4SDHB, UCP1, COX5A
3respiratory electron transport chainGO:0229048.0SDHB, PPARGC1A, UCP1, COX5A

Products for genes affiliated with Multiple Symmetric Lipomatosis

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Sources for Multiple Symmetric 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