MCID: MLT002
MIFTS: 35

Multiple Symmetrical Lipomatosis malady

Genetic diseases category

Summaries for Multiple Symmetrical Lipomatosis

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32MalaCards
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MalaCards: Multiple Symmetrical Lipomatosis, also known as lipomatosis, familial benign cervical, is related to lipomatosis and obesity. An important gene associated with Multiple Symmetrical 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.

Aliases & Classifications for Multiple Symmetrical Lipomatosis

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8Disease Ontology, 60UMLS, 56SNOMED-CT, 34MeSH
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Classifications:

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


Aliases & Descriptions:

multiple symmetrical lipomatosis 8
lipomatosis, familial benign cervical 60


External Ids:

Disease Ontology8 DOID:3137
SNOMED-CT56 238902007
MeSH34 D008069

Related Diseases for Multiple Symmetrical Lipomatosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Multiple Symmetrical Lipomatosis:



Diseases related to multiple symmetrical lipomatosis

Clinical Features for Multiple Symmetrical Lipomatosis

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Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Multiple Symmetrical Lipomatosis

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Anatomical Context for Multiple Symmetrical Lipomatosis

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

32
Adipocyte, Thyroid

Animal Models for Multiple Symmetrical Lipomatosis or affiliated genes

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Publications for Multiple Symmetrical Lipomatosis

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50PubMed
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Articles related to Multiple Symmetrical 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 symmetric lipomatosis: a review of 3 cases. (22953128)
2012
6
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. (23142763)
2012
7
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
8
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. (22075714)
2012
9
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. (22441442)
2012
10
Multiple symmetric lipomatosis. (21781630)
2011
11
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
12
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. (20190488)
2010
13
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
2009
14
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. (20048140)
2009
15
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
16
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
17
Multiple benign symmetric lipomatosis--a differential diagnosis of obesity: is there a rationale for fibrate treatment? (18175197)
2008
18
Multiple benign symmetric lipomatosis--a differential diagnosis of obesity. Is there a rationale for fibrate treatment? (18528737)
2008
19
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. (17329589)
2007
20
Total and regional body composition and energy expenditure in multiple symmetric lipomatosis. (15896422)
2005
21
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? (14988304)
2004
22
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
23
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
24
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
25
Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. (12375271)
2002
26
Ultrasound, CT and MRI in patients with multiple symmetric lipomatosis. (10650121)
2000
27
Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. (10817486)
2000
28
Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report. (10222605)
1999
29
Multiple Symmetric Lipomatosis--MR appearances. (10580773)
1999
30
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
31
Multiple symmetric lipomatosis in the Chinese: ultrasound, CT and MR imaging. (9867274)
1998
32
Laryngeal involvement in multiple symmetric lipomatosis: the role of computed tomography in diagnosis. (9074739)
1997
33
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
34
Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. (8857737)
1996
35
RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. (7531972)
1995
36
Neurological multisystem manifestation in multiple symmetric lipomatosis: a clinical and electrophysiological study. (7783758)
1995
37
Multiple symmetrical lipomatosis: computed tomographic appearance. (7777892)
1995
38
Mitochondrial abnormalities are not invariably present in neurologic syndromes associated with multiple symmetric lipomatosis. (7824120)
1995
39
An uncommon presentation of multiple symmetric lipomatosis. (8407077)
1993
40
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
41
Multiple symmetric lipomatosis (Launois-Bensaude syndrome). (1559745)
1992
42
An unusual cause of carotid sinus syndrome: multiple symmetric lipomatosis. (1372409)
1992
43
Multiple symmetric lipomatosis. (1723235)
1991
44
Mitochondrial dysfunction in multiple symmetrical lipomatosis. (1650162)
1991
45
Multiple symmetric lipomatosis. (3267365)
1988
46
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
47
Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis. (4058304)
1985
48
Ultrastructural features of cultured mature adipocyte precursors from adipose tissue in multiple symmetric lipomatosis. (6670139)
1983
49
Computed tomography of deep fat masses in multiple symmetrical lipomatosis. (7089242)
1982
50
Adipocyte adenylate cyclase and alpha- and beta-adrenergic receptors in one case of multiple symmetric lipomatosis. (6256016)
1980

Genetic Variations for Multiple Symmetrical Lipomatosis

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Expression for genes affiliated with Multiple Symmetrical Lipomatosis

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

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

Pathways for genes affiliated with Multiple Symmetrical Lipomatosis

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

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44Novoseek, 11DrugBank, 28IUPHAR, 2BitterDB, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Multiple Symmetrical 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 Symmetrical Lipomatosis

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

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

Biological processes related to Multiple Symmetrical 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 Symmetrical Lipomatosis

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Sources for Multiple Symmetrical 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