MCID: MLT002
MIFTS: 34

Multiple Symmetrical Lipomatosis malady

Genetic diseases (common), Skin diseases categories

Aliases & Classifications for Multiple Symmetrical Lipomatosis

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Aliases & Descriptions for Multiple Symmetrical Lipomatosis:

Name: Multiple Symmetrical Lipomatosis 10
Lipomatosis, Familial Benign Cervical 65
 
Lipomatosis, Multiple Symmetrical 65


Classifications:



External Ids:

Disease Ontology10 DOID:3137
SNOMED-CT59 238902007
MeSH36 D008069

Summaries for Multiple Symmetrical Lipomatosis

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MalaCards based summary: Multiple Symmetrical Lipomatosis, also known as lipomatosis, familial benign cervical, is related to merrf syndrome and obesity. An important gene associated with Multiple Symmetrical Lipomatosis is MFN2 (Mitofusin 2), and among its related pathways are Immune response_MIF-mediated glucocorticoid regulation and African trypanosomiasis. Affiliated tissues include skin, adipocyte and thyroid, and related mouse phenotypes are adipose tissue and renal/urinary system.

Related Diseases for Multiple Symmetrical Lipomatosis

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Diseases related to Multiple Symmetrical Lipomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1merrf syndrome30.3ADIPOQ, LEP, RETN
2obesity30.1ADIPOQ, IL6, LEP, MFN2, RETN, UCP1
3multiple symmetric lipomatosis11.3
4lipomatosis11.3
5neuropathy10.6
6laryngitis10.4
7myopathy10.4
8madelung disease10.4
9hyperalphalipoproteinemia10.3
10lipoma10.3
11gynecomastia10.3
12autonomic neuropathy10.3
13peripheral neuropathy10.3
14polyneuropathy10.3
15sleep apnea10.3
16thyroiditis10.3
17mitochondrial disorders10.3
18encephalomyopathy10.3
19myoclonus epilepsy10.3
20multiple endocrine neoplasia10.3
21encephalopathy10.3
22myoclonus10.3
23toxic shock syndrome10.2MT-TK, UCP1
24noonan syndrome 210.1ADIPOQ, LEP
25muscle hypertrophy10.1GSK3B, LEP
26gemistocytic astrocytoma10.1ADIPOQ, IL6
27clear cell squamous cell skin carcinoma10.1ADIPOQ, LEP
28best vitelliform macular dystrophy10.1ADIPOQ, LEP
29anterior cruciate ligament tears10.0ADIPOQ, IL6
30retinitis10.0IL6, SELP
31extrahepatic bile duct papillary adenoma10.0IL6, SELP
32multiple symmetrical lipomatosis10.0ADIPOQ, LEP
33pseudohermaphroditism10.0IL6, LEP
34acquired hemophilia10.0ADIPOQ, LEP, RETN
35lethal infantile mitochondrial myopathy10.0ADIPOQ, LEP, RETN
36nondystrophic myotonia10.0ADIPOQ, LEP, RETN
37motor neuron disease10.0ADIPOQ, LEP, RETN
38louse-borne relapsing fever10.0IL6, VCAM1
39lipid storage disease10.0ADIPOQ, LEP, RETN
40anorexia nervosa9.9ADIPOQ, LEP, RETN
41ossifying fibroma9.9LEP, VCAM1
42tracheal calcification9.9ADIPOQ, LEP, RETN
43lactose intolerance9.9ADIPOQ, LEP, RETN
44endodermal sinus tumor9.9ADIPOQ, LEP
45sleep disorder9.9ADIPOQ, IL6, LEP
46intraocular lymphoma9.9IL6, SELP
47lymphedema9.9ADIPOQ, IL6, LEP
48inappropriate adh syndrome9.9SELP, VCAM1
49dawson disease9.9IL6, VCAM1
50acquired immunodeficiency syndrome9.9IL6, VCAM1

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



Diseases related to multiple symmetrical lipomatosis

Symptoms for Multiple Symmetrical Lipomatosis

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Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Symmetrical Lipomatosis

Genetic Tests for Multiple Symmetrical Lipomatosis

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Anatomical Context for Multiple Symmetrical Lipomatosis

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MalaCards organs/tissues related to Multiple Symmetrical Lipomatosis:

33
Skin, Adipocyte, Thyroid

Animal Models for Multiple Symmetrical Lipomatosis or affiliated genes

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MGI Mouse Phenotypes related to Multiple Symmetrical Lipomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5ADIPOQ, IL6, LEP, RETN, UCP1
2MP:00053678.2ADIPOQ, GSK3B, IL6, LEP, SELP
3MP:00053908.1ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
4MP:00053707.8ADIPOQ, GSK3B, IL6, LEP, RETN, SELP
5MP:00053867.1ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
6MP:00053856.7ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
7MP:00053786.6ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
8MP:00053766.1ADIPOQ, GSK3B, IL6, LEP, MFN2, RETN

Publications for Multiple Symmetrical Lipomatosis

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Articles related to Multiple Symmetrical Lipomatosis:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. (26256662)
2015
2
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. (26180731)
2015
3
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. (25393046)
2014
4
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
5
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
6
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
7
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
8
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. (23142763)
2012
9
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
10
Multiple symmetric lipomatosis. (21781630)
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: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
21
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
22
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
23
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
24
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
25
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
26
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
27
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
28
Ultrasound, CT and MRI in patients with multiple symmetric lipomatosis. (10650121)
2000
29
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
30
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
31
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
32
Multiple symmetric lipomatosis in the Chinese: ultrasound, CT and MR imaging. (9867274)
1998
33
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis. (9879833)
1998
34
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
35
RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. (7531972)
1995
36
Multiple symmetrical lipomatosis: no longer just a Mediterranean disease? (8202317)
1994
37
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. (8190288)
1994
38
An uncommon presentation of multiple symmetric lipomatosis. (8407077)
1993
39
Multiple symmetrical lipomatosis. (1521476)
1992
40
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
41
Multiple symmetric lipomatosis (Launois-Bensaude syndrome). (1559745)
1992
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 Symmetrical Lipomatosis

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Expression for genes affiliated with Multiple Symmetrical Lipomatosis

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Search GEO for disease gene expression data for Multiple Symmetrical Lipomatosis.

Pathways for genes affiliated with Multiple Symmetrical Lipomatosis

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GO Terms for genes affiliated with Multiple Symmetrical Lipomatosis

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Cellular components related to Multiple Symmetrical Lipomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.8IL6, SELP, VCAM1
2extracellular spaceGO:00056157.1ADIPOQ, IL6, LEP, RETN, SELP, VCAM1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:005087310.1ADIPOQ, UCP1
2negative regulation of hormone secretionGO:004688810.1ADIPOQ, IL6
3positive regulation of STAT protein import into nucleusGO:200036610.0IL6, LEP
4negative regulation of smooth muscle cell proliferationGO:004866210.0ADIPOQ, MFN2
5negative regulation of fat cell differentiationGO:004559910.0ADIPOQ, IL6
6negative regulation of gluconeogenesisGO:00457219.9ADIPOQ, IL6
7fatty acid beta-oxidationGO:00066359.8ADIPOQ, LEP
8defense response to Gram-negative bacteriumGO:00508299.7IL6, SELP
9positive regulation of JAK-STAT cascadeGO:00464279.6IL6, LEP
10positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.5IL6, LEP
11calcium-mediated signaling using intracellular calcium sourceGO:00355849.5SELP, VCAM1
12heterophilic cell-cell adhesion via plasma membrane cell adhesion moleculesGO:00071579.4SELP, VCAM1
13leukocyte cell-cell adhesionGO:00071599.3SELP, VCAM1
14circadian rhythmGO:00076239.2ADIPOQ, GSK3B, LEP
15leukocyte tethering or rollingGO:00509019.0LEP, SELP, VCAM1
16glucose homeostasisGO:00425938.7ADIPOQ, IL6, LEP

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

idNameGO IDScoreTop Affiliating Genes
1sialic acid bindingGO:00336919.8ADIPOQ, SELP
2hormone activityGO:00051799.1ADIPOQ, LEP, RETN

Sources for Multiple Symmetrical Lipomatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet