MCID: MLT012
MIFTS: 36

Multiple Symmetric Lipomatosis malady

Genetic diseases (common) category

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, and has symptoms including autosomal dominant inheritance, abnormality of the skin and peripheral neuropathy. 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.

Aliases & Classifications for Multiple Symmetric Lipomatosis

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Sources:
9Disease Ontology, 43Novoseek, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt
See all sources

Multiple Symmetric Lipomatosis, Aliases & Descriptions:

Name: Multiple Symmetric Lipomatosis 9
Lipomatosis, Familial Benign Cervical 9 60
Lipomatosis, Multiple Symmetrical 60
Cervical Symmetrical Lipomatosis 9
Lipomatosis, Multiple Symmetric 43
 
Lipodystrophy, Cephalothoracic 9
Benign Symmetrical Lipomatosis 60
Launois-Bensaude's Lipomatosis 9
Madelung's Neck 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:14116
MeSH33 D008069
NCIt38 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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HPO human phenotypes related to Multiple Symmetric Lipomatosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the skin HP:0000951
3 peripheral neuropathy HP:0009830

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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Anatomical Context for Multiple Symmetric Lipomatosis

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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

31
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
Multiple symmetric lipomatosis: A rare disease and its possible links to brown adipose tissue. (25770761)
2015
2
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. (25393046)
2014
3
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
4
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
5
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
6
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
7
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. (23142763)
2012
8
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
9
Multiple symmetric lipomatosis. (21781630)
2011
10
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. (21764493)
2011
11
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
12
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
13
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
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 symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
17
Multiple symmetric lipomatosis: case report and review of the literature. (17577504)
2007
18
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. (17329589)
2007
19
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? (14988304)
2004
20
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
21
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
22
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
23
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
24
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
25
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
26
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
27
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
28
Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report. (10222605)
1999
29
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
30
Multiple symmetric lipomatosis in the Chinese: ultrasound, CT and MR imaging. (9867274)
1998
31
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis. (9879833)
1998
32
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
33
RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. (7531972)
1995
34
Multiple symmetrical lipomatosis: no longer just a Mediterranean disease? (8202317)
1994
35
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. (8190288)
1994
36
An uncommon presentation of multiple symmetric lipomatosis. (8407077)
1993
37
Multiple symmetrical lipomatosis. (1521476)
1992
38
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
39
Multiple symmetric lipomatosis (Launois-Bensaude syndrome). (1559745)
1992
40
Multiple symmetric lipomatosis: combined surgical treatment and liposuction. Case report. (1626219)
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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Search GEO for disease gene expression data for Multiple Symmetric Lipomatosis.

Pathways for genes affiliated with Multiple Symmetric Lipomatosis

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Pathways related to Multiple Symmetric Lipomatosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Alzheimers Disease36
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 Suite gene sharing:

(show all 37)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone43 1210.7UCP1, SDHB
2ubiquinone439.7UCP1, SDHB
3zidovudine43 49 1211.7UCP1, COX5A
4rotenone439.7UCP1, SDHB
5malate439.7COX5A, SDHB
6succinate439.7SDHB, COX5A
7acetaminophen43 2 49 24 1213.6COX5A, SDHB
8glucose 6-phosphate43 2410.6SDHB, COX5A
9catecholamine439.6UCP1, SDHB
10pgc1439.5UCP1, PPARGC1A
11palmitate439.3UCP1, PPARGC1A
12nadh43 24 1211.3COX5A, SDHB
13ascorbic acid43 2410.2SDHB, COX5A
14rosiglitazone28 43 49 24 1213.2UCP1, PPARGC1A
15superoxide43 2410.2UCP1, COX5A, SDHB
16h2o2439.2SDHB, COX5A, UCP1
17glutamate439.1SDHB, COX5A, UCP1
18ethanol43 49 24 1212.0COX5A, SDHB
19carnitine439.0UCP1, COX5A, PPARGC1A
20linoleic acid28 43 2411.0PPARGC1A, COX5A, UCP1
21fatty acid439.0PPARGC1A, COX5A, UCP1
22cyclic amp43 2410.0PPARGC1A, COX5A, UCP1
23cysteine439.0UCP1, COX5A, SDHB
24citrate438.9COX5A, SDHB, PPARGC1A
25nitric oxide43 24 1210.9UCP1, COX5A, PPARGC1A
26norepinephrine43 24 1210.9PPARGC1A, SDHB, UCP1
27testosterone43 59 24 1211.8UCP1, SDHB, PPARGC1A
28vegf438.8COX5A, SDHB, PPARGC1A
29arginine438.8PPARGC1A, SDHB, COX5A
30retinoic acid43 249.8PPARGC1A, COX5A, UCP1
31glucose438.6PPARGC1A, SDHB, UCP1
32serine438.6UCP1, COX5A, PPARGC1A
33pyruvate438.4UCP1, COX5A, SDHB, PPARGC1A
34cholesterol43 28 24 1211.4PPARGC1A, SDHB, COX5A, UCP1
35oxygen43 249.4PPARGC1A, SDHB, COX5A, UCP1
36atp43 289.4PPARGC1A, SDHB, COX5A, UCP1
37lipid438.4UCP1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.8UCP1, COX5A, SDHB

Biological processes related to Multiple Symmetric Lipomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:00508738.8UCP1, PPARGC1A
2small molecule metabolic processGO:00442818.8UCP1, COX5A, SDHB
3cellular metabolic processGO:00442378.7SDHB, COX5A, UCP1
4respiratory electron transport chainGO:00229048.0UCP1, COX5A, SDHB, PPARGC1A

Molecular functions related to Multiple Symmetric Lipomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.3COX5A, SDHB

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet