MCID: MLT002
MIFTS: 29

Multiple Symmetrical Lipomatosis malady

Genetic category

Summaries for Multiple Symmetrical Lipomatosis

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33MalaCards
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MalaCards: Multiple Symmetrical Lipomatosis, also known as lipomatosis, familial benign cervical, is related to merrf syndrome and multiple symmetric lipomatosis. 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 thyroid.

Aliases & Classifications for Multiple Symmetrical Lipomatosis

Sources:
8Disease Ontology, 61UMLS, 57SNOMED-CT, 35MeSH
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Classifications:

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


Aliases & Descriptions:

multiple symmetrical lipomatosis 8
lipomatosis, familial benign cervical 61


External Ids:

Disease Ontology8 DOID:3137
SNOMED-CT57 238902007
MeSH35 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

Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Multiple Symmetrical Lipomatosis

Search CenterWatch for Multiple Symmetrical Lipomatosis

Genetic Tests for Multiple Symmetrical Lipomatosis

Anatomical Context for Multiple Symmetrical Lipomatosis

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33MalaCards
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MalaCards organs/tissues related to Multiple Symmetrical Lipomatosis:

33
Thyroid

Animal Models for Multiple Symmetrical Lipomatosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Multiple Symmetrical Lipomatosis

Sources:
51PubMed
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Articles related to Multiple Symmetrical Lipomatosis:

(show all 21)
idTitleAuthorsYear
1
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
2
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. (23524250)
2013
3
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
4
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
5
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. (20048140)
2009
6
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
7
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
8
Are 'buffalo hump' syndrome, Madelung's disease and multiple symmetrical lipomatosis variants of the same dysmetabolism? (11216947)
2001
9
Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report. (10222605)
1999
10
A case of multiple symmetrical lipomatosis (Madelung's disease). (10419045)
1999
11
MR of laryngeal and scrotal involvement in multiple symmetrical lipomatosis. (9228115)
1997
12
Multiple symmetrical lipomatosis in a patient on long-term corticosteroid therapy. (8800313)
1996
13
Multiple symmetrical lipomatosis (Madelung's disease): a case report. (8915118)
1996
14
Multiple symmetrical lipomatosis: computed tomographic appearance. (7777892)
1995
15
Multiple symmetrical lipomatosis: no longer just a Mediterranean disease? (8202317)
1994
16
Mitochondrial respiratory function in multiple symmetrical lipomatosis: report of two cases. (7858441)
1994
17
Multiple symmetrical lipomatosis. (1521476)
1992
18
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
19
Mitochondrial dysfunction in multiple symmetrical lipomatosis. (1650162)
1991
20
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
21
Computed tomography of deep fat masses in multiple symmetrical lipomatosis. (7089242)
1982

Genetic Variations for Multiple Symmetrical Lipomatosis

Expression for genes affiliated with Multiple Symmetrical Lipomatosis

Sources:
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Multiple Symmetrical Lipomatosis

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 2BitterDB, 50PharmGKB, 24HMDB, 60Tocris Bioscience
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Compounds related to Multiple Symmetrical Lipomatosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone45 1110.9SDHB, UCP1
2ubiquinone459.8UCP1, SDHB
3rotenone459.8SDHB, UCP1
4pgc1459.8PPARGC1A, UCP1
5trolox459.5COX5A, ACP1
6diphenyleneiodonium459.4ACP1, COX5A
7malate459.4COX5A, SDHB
8palmitate459.4PPARGC1A, UCP1
9prostaglandin f2alpha459.4ACP1, COX5A
10salicylic acid45 2910.4ACP1, COX5A
11succinate459.3COX5A, SDHB
12acetaminophen45 2 50 11 2413.3SDHB, COX5A
13zidovudine45 1110.3UCP1, COX5A
14aspartate459.2SDHB, ACP1, UCP1
15catecholamine459.2SDHB, UCP1
16glucose 6-phosphate45 2410.1SDHB, COX5A
17nadh45 11 2411.1COX5A, MT-ATP6, SDHB
18carnitine459.0COX5A, UCP1, PPARGC1A
19linoleic acid45 29 2411.0PPARGC1A, UCP1, COX5A
20ascorbic acid45 2410.0SDHB, ACP1, COX5A
21superoxide45 2410.0SDHB, UCP1, COX5A
22nadph45 249.9SDHB, ACP1, COX5A
23citrate458.9COX5A, PPARGC1A, SDHB
24fatty acid458.9COX5A, UCP1, PPARGC1A
25testosterone45 60 11 2411.8UCP1, PPARGC1A, SDHB
26norepinephrine45 11 2410.8SDHB, ACP1, PPARGC1A, UCP1
27cyclic amp45 249.8PPARGC1A, UCP1, COX5A
28h2o2458.5SDHB, ACP1, UCP1, COX5A
29glutamate458.5SDHB, ACP1, UCP1, COX5A
30cysteine458.5SDHB, ACP1, UCP1, COX5A
31pyruvate458.5COX5A, UCP1, PPARGC1A, SDHB
32cholesterol45 29 11 2411.4COX5A, UCP1, PPARGC1A, SDHB
33retinoic acid45 249.4COX5A, UCP1, PPARGC1A, ACP1
34lipid458.4COX5A, UCP1, PPARGC1A, SDHB
35vegf458.4SDHB, ACP1, PPARGC1A, COX5A
36arginine458.4COX5A, PPARGC1A, ACP1, SDHB
37serine458.2COX5A, UCP1, PPARGC1A, ACP1
38atp45 299.1COX5A, UCP1, PPARGC1A, MT-ATP6, SDHB
39oxygen45 248.5SDHB, ACP1, MT-ATP6, PPARGC1A, UCP1, COX5A

GO Terms for genes affiliated with Multiple Symmetrical Lipomatosis

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Symmetrical Lipomatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet