MCID: MLT012
MIFTS: 41

Multiple Symmetric Lipomatosis malady

Genetic category

Summaries for Multiple Symmetric Lipomatosis

Sources:
47OMIM, 33MalaCards
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MalaCards: Multiple Symmetric Lipomatosis, also known as lipomatosis, familial benign cervical, is related to merrf syndrome and multiple symmetrical lipomatosis. An important gene associated with Multiple Symmetric 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.

Description from OMIM:47 151800

Aliases & Classifications for Multiple Symmetric Lipomatosis

Sources:
8Disease Ontology, 22GTR, 61UMLS, 45Novoseek, 57SNOMED-CT, 40NCIt, 35MeSH, 47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

multiple symmetric lipomatosis 8
lipomatosis, familial benign cervical 8 22 61
lipomatosis, multiple symmetrical 61
cervical symmetrical lipomatosis 8
lipomatosis, multiple symmetric 45
lipodystrophy, cephalothoracic 8
benign symmetrical lipomatosis 61
launois-bensaude's lipomatosis 8
madelung's neck 8


External Ids:

Disease Ontology8 DOID:14116
NCIt40 C4392
MeSH35 D008069
OMIM47 151800

Related Diseases for Multiple Symmetric Lipomatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Multiple Symmetric Lipomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1merrf syndrome30.3SDHB, COX5A
2multiple symmetrical lipomatosis10.9
3madelung disease10.8
4lip disease10.8
5axonal neuropathy10.2
6bullous pemphigoid10.2
7alcohol abuse10.2
8atopic dermatitis10.2
9pellagra10.2
10liver lipoma10.2
11tongue disease10.2
12myelomeningocele10.2
13barraquer-simons syndrome10.2
14wernicke encephalopathy10.2
15n syndrome10.2
16autonomic neuropathy10.2
17encephalomyopathy10.2
18myoclonus epilepsy10.2
19mental retardation10.2
20multiple endocrine neoplasia10.2
21myoclonus10.2
22sleep apnea10.2
23hyperalphalipoproteinemia10.2
24lipomatosis10.0UCP1
25prostate cancer10.0ACP1
26kearns-sayre syndrome10.0COX5A
27ovarian cancer10.0ACP1
28alzheimer's disease10.0COX5A
29deficiency anemia10.0COX5A
30neurofibromatosis10.0SDHB, ACP1
31myopathy10.0COX5A, SDHB
32mitochondrial disorders10.0COX5A, MT-ATP6
33early myoclonic encephalopathy10.0SDHB, COX5A
34hyperglycemia10.0ACP1, PPARGC1A
35lactic acidosis10.0SDHB, COX5A
36glucose intolerance10.0ACP1, PPARGC1A
37ischemia10.0COX5A, SDHB
38familial hyperlipidemia10.0PPARGC1A, UCP1
39obesity10.0ACP1, PPARGC1A, UCP1
40metabolic syndrome x10.0UCP1, PPARGC1A, ACP1
41pheochromocytoma10.0SDHB, UCP1, ACP1
42brain disease10.0SDHB, COX5A
43leigh disease10.0MT-ATP6, SDHB, COX5A
44diabetes mellitus10.0UCP1, PPARGC1A, ACP1
45noonan syndrome10.0PPARGC1A, COX5A, MT-ATP6
46prion disease10.0COX5A, PPARGC1A
47type 2 diabetes mellitus10.0ACP1, UCP1, SDHB, PPARGC1A
48hypertrophy of breast10.0SDHB, UCP1, PPARGC1A, ACP1
49atherosclerosis10.0COX5A, UCP1, PPARGC1A, ACP1

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



Diseases related to multiple symmetric lipomatosis

Clinical Features for Multiple Symmetric Lipomatosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

151800

Drugs & Therapeutics for Multiple Symmetric Lipomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Multiple Symmetric Lipomatosis:

id Genetic test Affiliating Genes
1 Lipomatosis Familial Benign Cervical22

Anatomical Context for Multiple Symmetric Lipomatosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

33
Adipocyte, Thyroid

Animal Models for Multiple Symmetric Lipomatosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Multiple Symmetric Lipomatosis

Sources:
51PubMed
See all sources

Articles related to Multiple Symmetric 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 symmetric lipomatosis: a diagnostic dilemma. (23983713)
2013
4
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. (23524250)
2013
5
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
6
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. (21764493)
2011
7
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
8
Progressive myopathy with multiple symmetric lipomatosis. (20008669)
2009
9
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
10
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
11
Multiple symmetric lipomatosis: case report and review of the literature. (17577504)
2007
12
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
13
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. (15124898)
2004
14
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
15
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
16
Alcoholism as a trigger of multiple symmetric lipomatosis? (12702098)
2003
17
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
18
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
19
Are 'buffalo hump' syndrome, Madelung's disease and multiple symmetrical lipomatosis variants of the same dysmetabolism? (11216947)
2001
20
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
21
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
22
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
23
A case of multiple symmetrical lipomatosis (Madelung's disease). (10419045)
1999
24
MR of laryngeal and scrotal involvement in multiple symmetrical lipomatosis. (9228115)
1997
25
Multiple symmetrical lipomatosis in a patient on long-term corticosteroid therapy. (8800313)
1996
26
Multiple symmetrical lipomatosis (Madelung's disease): a case report. (8915118)
1996
27
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
28
Neurological multisystem manifestation in multiple symmetric lipomatosis: a clinical and electrophysiological study. (7783758)
1995
29
Multiple symmetrical lipomatosis: no longer just a Mediterranean disease? (8202317)
1994
30
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. (8190288)
1994
31
Mitochondrial respiratory function in multiple symmetrical lipomatosis: report of two cases. (7858441)
1994
32
Extremely high HDL levels in a patient with multiple symmetric lipomatosis. (8143360)
1993
33
Multiple symmetrical lipomatosis. (1521476)
1992
34
Multiple symmetric lipomatosis: combined surgical treatment and liposuction. Case report. (1626219)
1992
35
Multiple symmetric lipomatosis. (1723235)
1991
36
Mitochondrial dysfunction in multiple symmetrical lipomatosis. (1650162)
1991
37
Multiple symmetric lipomatosis. Ultrastructural investigation of the tissue and preadipocytes in primary culture. (2381166)
1990
38
Familial multiple symmetric lipomatosis with peripheral neuropathy. (2166247)
1990
39
A case of multiple symmetric lipomatosis (Madelung's disease). (2690720)
1989
40
Multiple symmetric lipomatosis: treatment with liposuction. (3346417)
1988
41
Neuropathy in multiple symmetric lipomatosis. Madelung's disease. (3179687)
1988
42
Multiple symmetric lipomatosis (Launois-Bensaude syndrome): effect of oral salbutamol. (2897261)
1987
43
Multiple symmetric lipomatosis: report of two cases and review of the literature. (3799134)
1986
44
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
45
Impairment of cardiovascular autonomic reflexes in multiple symmetric lipomatosis. (6491158)
1984
46
Multiple symmetric lipomatosis: an updated clinical report. (6318013)
1984
47
Metabolic abnormalities in multiple symmetric lipomatosis: elevated lipoprotein lipase activity in adipose tissue with hyperalphalipoproteinemia. (6875381)
1983
48
Adrenergic regulation of fat-cell lipolysis in multiple symmetric lipomatosis. (6129978)
1982
49
Multiple symmetric lipomatosis. A defect in adrenergic stimulated lipolysis II. (6250168)
1980
50
Multiple symmetric lipomatosis (Launois-Bensaude syndrome) - adipose tissue insensitivity to cyclic AMP. (222796)
1979

Genetic Variations for Multiple Symmetric Lipomatosis

Expression for genes affiliated with Multiple Symmetric Lipomatosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Multiple Symmetric Lipomatosis

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 2BitterDB, 50PharmGKB, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Multiple Symmetric 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 Symmetric Lipomatosis

Sources:
16Gene Ontology
See all sources

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

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

Biological processes related to Multiple Symmetric 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 Symmetric Lipomatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Symmetric 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