MCID: MLT012
MIFTS: 45

Multiple Symmetric Lipomatosis malady

Genetic diseases (common), Skin diseases categories

Summaries for Multiple Symmetric Lipomatosis

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48OMIM, 34MalaCards
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MalaCards: Multiple Symmetric Lipomatosis, also known as lipomatosis, familial benign cervical, is related to lipomatosis and myopathy. 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:48 151800

Aliases & Classifications for Multiple Symmetric Lipomatosis

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Sources:
9Disease Ontology, 23GTR, 63UMLS, 46Novoseek, 36MeSH, 48OMIM, 41NCIt, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

multiple symmetric lipomatosis 9
lipomatosis, familial benign cervical 9 23 63
lipomatosis, multiple symmetrical 63
cervical symmetrical lipomatosis 9
lipomatosis, multiple symmetric 46
lipodystrophy, cephalothoracic 9
launois-bensaude's lipomatosis 9
benign symmetrical lipomatosis 63
madelung's neck 9


External Ids:

Disease Ontology9 DOID:14116
MeSH36 D008069
OMIM48 151800
NCIt41 C4392

Related Diseases for Multiple Symmetric Lipomatosis

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

151800

Drugs & Therapeutics for Multiple Symmetric Lipomatosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
23GTR
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Genetic tests related to Multiple Symmetric Lipomatosis:

id Genetic test Affiliating Genes
1 Lipomatosis Familial Benign Cervical23

Anatomical Context for Multiple Symmetric Lipomatosis

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Sources:
34MalaCards
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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

34
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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Sources:
53PubMed
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Articles related to Multiple Symmetric Lipomatosis:

(show top 50)    (show all 93)
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 symmetric lipomatosis: a review of 3 cases. (22953128)
2012
4
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
5
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. (23142763)
2012
6
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
7
Multiple symmetric lipomatosis. (21781630)
2011
8
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
9
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
10
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
2009
11
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
12
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
13
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
14
Multiple symmetric lipomatosis: case report and review of the literature. (17577504)
2007
15
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. (17329589)
2007
16
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? (14988304)
2004
17
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
18
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
19
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
20
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
21
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
22
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
23
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
24
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
25
Ultrasound, CT and MRI in patients with multiple symmetric lipomatosis. (10650121)
2000
26
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
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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2BioGPS, 16Gene 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:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters
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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 Disease39
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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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 3BitterDB, 25HMDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Multiple Symmetric Lipomatosis according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone46 1210.7UCP1, SDHB
2ubiquinone469.7UCP1, SDHB
3zidovudine46 52 1211.7UCP1, COX5A
4rotenone469.7UCP1, SDHB
5malate469.7COX5A, SDHB
6succinate469.7SDHB, COX5A
7acetaminophen46 3 52 25 1213.6COX5A, SDHB
8glucose 6-phosphate46 2510.6SDHB, COX5A
9catecholamine469.6UCP1, SDHB
10pgc1469.5UCP1, PPARGC1A
11palmitate469.3UCP1, PPARGC1A
12nadh46 25 1211.3COX5A, SDHB
13ascorbic acid46 2510.2SDHB, COX5A
14rosiglitazone30 46 52 25 1213.2UCP1, PPARGC1A
15superoxide46 2510.2UCP1, COX5A, SDHB
16h2o2469.2SDHB, COX5A, UCP1
17glutamate469.1SDHB, COX5A, UCP1
18ethanol46 52 25 1212.0COX5A, SDHB
19carnitine469.0UCP1, COX5A, PPARGC1A
20linoleic acid30 46 2511.0PPARGC1A, COX5A, UCP1
21fatty acid469.0PPARGC1A, COX5A, UCP1
22cyclic amp46 2510.0PPARGC1A, COX5A, UCP1
23cysteine469.0UCP1, COX5A, SDHB
24citrate468.9COX5A, SDHB, PPARGC1A
25nitric oxide46 25 1210.9UCP1, COX5A, PPARGC1A
26norepinephrine46 25 1210.9PPARGC1A, SDHB, UCP1
27testosterone46 62 25 1211.8UCP1, SDHB, PPARGC1A
28vegf468.8COX5A, SDHB, PPARGC1A
29arginine468.8PPARGC1A, SDHB, COX5A
30retinoic acid46 259.8PPARGC1A, COX5A, UCP1
31glucose468.6PPARGC1A, SDHB, UCP1
32serine468.6UCP1, COX5A, PPARGC1A
33pyruvate468.4UCP1, COX5A, SDHB, PPARGC1A
34cholesterol46 30 25 1211.4PPARGC1A, SDHB, COX5A, UCP1
35oxygen46 259.4PPARGC1A, SDHB, COX5A, UCP1
36atp46 309.4PPARGC1A, SDHB, COX5A, UCP1
37lipid468.4UCP1, COX5A, SDHB, PPARGC1A

GO Terms for genes affiliated with Multiple Symmetric Lipomatosis

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17Gene Ontology
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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Symmetric Lipomatosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet