MCID: MLT012
MIFTS: 45

Multiple Symmetric Lipomatosis malady

Genetic diseases (common), Skin diseases categories
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Summaries for Multiple Symmetric Lipomatosis

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MalaCards based summary: Multiple Symmetric Lipomatosis, also known as lipomatosis, familial benign cervical, is related to lipomatosis and merrf syndrome. An important gene associated with Multiple Symmetric Lipomatosis is UCP1 (uncoupling protein 1 (mitochondrial, proton carrier)), and among its related pathways are Alzheimer's disease and Ca-dependent events. The compounds thenoyltrifluoroacetone and ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and thyroid.

Description from OMIM:46 151800

Aliases & Classifications for Multiple Symmetric Lipomatosis

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Sources:
8Disease Ontology, 22GTR, 62UMLS, 44Novoseek, 57SNOMED-CT, 34MeSH, 46OMIM, 39NCIt
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Multiple Symmetric Lipomatosis, Aliases & Descriptions:

Name: Multiple Symmetric Lipomatosis 8
Lipomatosis, Familial Benign Cervical 8 22 62
Lipomatosis, Multiple Symmetrical 62
Cervical Symmetrical Lipomatosis 8
Lipomatosis, Multiple Symmetric 44
 
Lipodystrophy, Cephalothoracic 8
Benign Symmetrical Lipomatosis 62
Launois-Bensaude's Lipomatosis 8
Madelung's Neck 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:14116
MeSH34 D008069
OMIM46 151800
NCIt39 C4392

Related Diseases for Multiple Symmetric Lipomatosis

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



Diseases related to multiple symmetric lipomatosis

Symptoms for Multiple Symmetric Lipomatosis

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Clinical features from OMIM:

151800

Drugs & Therapeutics for Multiple Symmetric Lipomatosis

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Drug clinical trials:

Search ClinicalTrials for Multiple Symmetric Lipomatosis

Search NIH Clinical Center for Multiple Symmetric Lipomatosis

Genetic Tests for Multiple Symmetric Lipomatosis

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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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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

32
Skin, Adipocyte, Thyroid

Animal Models for Multiple Symmetric Lipomatosis or affiliated genes

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Publications for Multiple Symmetric Lipomatosis

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Articles related to Multiple Symmetric Lipomatosis:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. (25393046)
2014
2
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
3
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
4
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
5
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
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
Multiple symmetric lipomatosis. (21781630)
2011
9
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
10
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
11
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
2009
12
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
13
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
14
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
15
Multiple symmetric lipomatosis: case report and review of the literature. (17577504)
2007
16
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. (17329589)
2007
17
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? (14988304)
2004
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
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
21
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
22
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
23
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
24
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
25
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
26
Ultrasound, CT and MRI in patients with multiple symmetric lipomatosis. (10650121)
2000
27
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
28
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
29
Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report. (10222605)
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
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis. (9879833)
1998
33
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
34
RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. (7531972)
1995
35
Multiple symmetrical lipomatosis: no longer just a Mediterranean disease? (8202317)
1994
36
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. (8190288)
1994
37
An uncommon presentation of multiple symmetric lipomatosis. (8407077)
1993
38
Multiple symmetrical lipomatosis. (1521476)
1992
39
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
40
Multiple symmetric lipomatosis (Launois-Bensaude syndrome). (1559745)
1992
41
Multiple symmetric lipomatosis. (1723235)
1991
42
Multiple symmetric lipomatosis. (3267365)
1988
43
Multiple symmetric lipomatosis: treatment with liposuction. (3346417)
1988
44
Neuropathy in multiple symmetric lipomatosis. Madelung's disease. (3179687)
1988
45
Multiple symmetric lipomatosis: report of two cases and review of the literature. (3799134)
1986
46
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
47
Impairment of cardiovascular autonomic reflexes in multiple symmetric lipomatosis. (6491158)
1984
48
Multiple symmetric lipomatosis: an updated clinical report. (6318013)
1984
49
Ultrastructural features of cultured mature adipocyte precursors from adipose tissue in multiple symmetric lipomatosis. (6670139)
1983
50
Adrenergic regulation of fat-cell lipolysis in multiple symmetric lipomatosis. (6129978)
1982

Variations for Multiple Symmetric Lipomatosis

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Expression for genes affiliated with Multiple Symmetric Lipomatosis

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Expression patterns in normal tissues for genes affiliated with Multiple Symmetric Lipomatosis

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Pathways for genes affiliated with Multiple Symmetric Lipomatosis

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Pathways related to Multiple Symmetric Lipomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Alzheimers Disease37
9.3COX5A, SDHB
2
Show member pathways
9.1UCP1, PPARGC1A
39.1UCP1, PPARGC1A
4
Show member pathways
8.0PPARGC1A, SDHB, COX5A, UCP1
5
Show member pathways
8.0UCP1, COX5A, SDHB, PPARGC1A

Compounds for genes affiliated with Multiple Symmetric Lipomatosis

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Compounds related to Multiple Symmetric Lipomatosis according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.7UCP1, SDHB
2ubiquinone449.7UCP1, SDHB
3zidovudine44 50 1111.7UCP1, COX5A
4rotenone449.7UCP1, SDHB
5malate449.7COX5A, SDHB
6succinate449.7SDHB, COX5A
7acetaminophen44 2 50 24 1113.6COX5A, SDHB
8glucose 6-phosphate44 2410.6SDHB, COX5A
9catecholamine449.6UCP1, SDHB
10pgc1449.5UCP1, PPARGC1A
11palmitate449.3UCP1, PPARGC1A
12nadh44 24 1111.3COX5A, SDHB
13ascorbic acid44 2410.2SDHB, COX5A
14rosiglitazone28 44 50 24 1113.2UCP1, PPARGC1A
15superoxide44 2410.2UCP1, COX5A, SDHB
16h2o2449.2SDHB, COX5A, UCP1
17glutamate449.1SDHB, COX5A, UCP1
18ethanol44 50 24 1112.0COX5A, SDHB
19carnitine449.0UCP1, COX5A, PPARGC1A
20linoleic acid28 44 2411.0PPARGC1A, COX5A, UCP1
21fatty acid449.0PPARGC1A, COX5A, UCP1
22cyclic amp44 2410.0PPARGC1A, COX5A, UCP1
23cysteine449.0UCP1, COX5A, SDHB
24citrate448.9COX5A, SDHB, PPARGC1A
25nitric oxide44 24 1110.9UCP1, COX5A, PPARGC1A
26norepinephrine44 24 1110.9PPARGC1A, SDHB, UCP1
27testosterone44 61 24 1111.8UCP1, SDHB, PPARGC1A
28vegf448.8COX5A, SDHB, PPARGC1A
29arginine448.8PPARGC1A, SDHB, COX5A
30retinoic acid44 249.8PPARGC1A, COX5A, UCP1
31glucose448.6PPARGC1A, SDHB, UCP1
32serine448.6UCP1, COX5A, PPARGC1A
33pyruvate448.4UCP1, COX5A, SDHB, PPARGC1A
34cholesterol44 28 24 1111.4PPARGC1A, SDHB, COX5A, UCP1
35oxygen44 249.4PPARGC1A, SDHB, COX5A, UCP1
36atp44 289.4PPARGC1A, SDHB, COX5A, UCP1
37lipid448.4UCP1, COX5A, SDHB, PPARGC1A

GO Terms for genes affiliated with Multiple Symmetric Lipomatosis

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.8UCP1, COX5A, SDHB

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

idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:0508738.8UCP1, PPARGC1A
2small molecule metabolic processGO:0442818.8UCP1, COX5A, SDHB
3cellular metabolic processGO:0442378.7SDHB, COX5A, UCP1
4respiratory electron transport chainGO:0229048.0UCP1, COX5A, SDHB, PPARGC1A

Molecular functions related to Multiple Symmetric Lipomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.3COX5A, SDHB

Products for genes affiliated with Multiple Symmetric Lipomatosis

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet