MSL
MCID: LPM010
MIFTS: 43

Lipomatosis, Multiple Symmetric (MSL)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipomatosis, Multiple Symmetric

MalaCards integrated aliases for Lipomatosis, Multiple Symmetric:

Name: Lipomatosis, Multiple Symmetric 57 55
Multiple Symmetric Lipomatosis 12 53 59 15
Lipomatosis, Familial Benign Cervical 57 12 73
Lipomatosis, Multiple Symmetrical 44 73
Lipodystrophy, Cephalothoracic 57 12
Benign Symmetrical Lipomatosis 53 73
Madelung Disease 53 59
Familial Benign Cervical Lipomatosis 59
Lipomatosis Familial Benign Cervical 29
Cervical Symmetrical Lipomatosis 12
Multiple Symmetrical Lipomatosis 12
Launois-Bensaude's Lipomatosis 12
Familial Symmetric Lipomatosis 53
Cephalothoracic Lipodystrophy 59
Launois-Bensaude Lipomatosis 59
Launois-Bensaude Syndrome 53
Madelung's Disease 53
Madelung's Neck 12
Msl 57

Characteristics:

Orphanet epidemiological data:

59
multiple symmetric lipomatosis
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Not applicable; Prevalence: 1-9/100000 (Italy); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
lipomatosis, multiple symmetric:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 151800
Disease Ontology 12 DOID:14116
MeSH 44 D008069
NCIt 50 C4392
SNOMED-CT 68 63365006
Orphanet 59 ORPHA2398
UMLS via Orphanet 74 C2931642 C0023804 C0024445
ICD10 via Orphanet 34 E88.8
MedGen 42 C0023804

Summaries for Lipomatosis, Multiple Symmetric

NIH Rare Diseases : 53 Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy, when they compress a nerve. In the majority of cases, the condition does not lead to cancer; however, lipomas can become cancerous in rare circumstances. The exact cause of the condition is unknown, but it may be associated with mutationsĀ in mitochondrial DNA. Treatment may include medications to correct associated metabolic conditions, surgery or liposuction to remove the lipomas, and avoidance of alcohol.

MalaCards based summary : Lipomatosis, Multiple Symmetric, also known as multiple symmetric lipomatosis, is related to lipomatosis and lipodystrophy, partial, acquired. An important gene associated with Lipomatosis, Multiple Symmetric is MFN2 (Mitofusin 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Apelin signaling pathway. Affiliated tissues include skin and adipocyte, and related phenotypes are gait disturbance and hepatomegaly

OMIM : 57 Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level (summary by Enzi et al., 2002). (151800)

Wikipedia : 76 A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and... more...

Related Diseases for Lipomatosis, Multiple Symmetric

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 lipomatosis 30.5 UCP1 MFN2 LIPE
2 lipodystrophy, partial, acquired 11.6
3 neuropathy 10.3
4 myopathy 10.2
5 gynecomastia 10.1
6 lymphosarcoma 10.1
7 alcohol dependence 10.0
8 dermatitis, atopic 10.0
9 alcohol abuse 10.0
10 myelomeningocele 10.0
11 hyperinsulinism 10.0
12 dermatitis 10.0
13 axonal neuropathy 10.0
14 pellagra 10.0
15 bullous pemphigoid 10.0
16 psoriasis 10.0
17 multiple endocrine neoplasia, type i 10.0
18 mitochondrial myopathy 10.0
19 myoclonic epilepsy associated with ragged-red fibers 10.0
20 diabetes mellitus 10.0
21 sleep apnea 10.0
22 autonomic neuropathy 10.0
23 polyneuropathy 10.0
24 epilepsy 10.0
25 plexopathy 10.0
26 peripheral nervous system disease 10.0
27 myoclonus epilepsy 10.0
28 multiple endocrine neoplasia 10.0
29 myoclonus 10.0
30 encephalopathy 10.0
31 overnutrition 9.9 UCP1 LIPE
32 3-methylglutaconic aciduria, type iii 9.7 MFN2 IMMT
33 body mass index quantitative trait locus 11 9.6 UCP1 MLXIPL MFN2 LIPE

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



Diseases related to Lipomatosis, Multiple Symmetric

Symptoms & Phenotypes for Lipomatosis, Multiple Symmetric

Symptoms via clinical synopsis from OMIM:

57
Skin:
neck collar of fat
multiple lipomata

Neuro:
somatic and autonomic neuropathy


Clinical features from OMIM:

151800

Human phenotypes related to Lipomatosis, Multiple Symmetric:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
2 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
5 peripheral neuropathy 59 32 Frequent (79-30%) HP:0009830
6 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
7 multiple lipomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001012
8 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
9 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
10 lipoma 32 HP:0012032
11 abnormality of the skin 32 HP:0000951
12 abnormality of adipose tissue 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Lipomatosis, Multiple Symmetric:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.92 ANGPTL8 LIPE MLXIPL UCP1

Drugs & Therapeutics for Lipomatosis, Multiple Symmetric

Search Clinical Trials , NIH Clinical Center for Lipomatosis, Multiple Symmetric

Cochrane evidence based reviews: lipomatosis, multiple symmetrical

Genetic Tests for Lipomatosis, Multiple Symmetric

Genetic tests related to Lipomatosis, Multiple Symmetric:

# Genetic test Affiliating Genes
1 Lipomatosis Familial Benign Cervical 29

Anatomical Context for Lipomatosis, Multiple Symmetric

MalaCards organs/tissues related to Lipomatosis, Multiple Symmetric:

41
Skin, Adipocyte

Publications for Lipomatosis, Multiple Symmetric

Articles related to Lipomatosis, Multiple Symmetric:

(show top 50) (show all 94)
# Title Authors Year
1
Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort. ( 29876171 )
2018
2
Adipose tissue-derived stem cells from affected and unaffected areas in patients with multiple symmetric lipomatosis show differential regulation of mTOR pathway genes. ( 29758934 )
2018
3
Madelung's disease (multiple symmetric lipomatosis) in an alcoholic patient. ( 29680582 )
2018
4
Madelung disease (multiple symmetric lipomatosis). ( 30101135 )
2018
5
Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant. ( 30283804 )
2018
6
Multiple Symmetric Lipomatosis. ( 28643398 )
2017
7
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. ( 28901441 )
2017
8
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
9
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. ( 28438575 )
2017
10
Multiple symmetric lipomatosis. ( 28680030 )
2017
11
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. ( 27018673 )
2016
12
Central nervous system involvement in multiple symmetric lipomatosis. ( 27772774 )
2016
13
Multiple symmetric lipomatosis with spindle cell proliferation. ( 26922721 )
2016
14
miR-125a-3p and miR-483-5p promote adipogenesis via suppressing the RhoA/ROCK1/ERK1/2 pathway in multiple symmetric lipomatosis. ( 26148871 )
2015
15
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. ( 26180731 )
2015
16
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. ( 26085578 )
2015
17
Multiple symmetric lipomatosis: A rare disease and its possible links to brown adipose tissue. ( 25770761 )
2015
18
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. ( 26256662 )
2015
19
Multiple symmetric lipomatosis: an unusual case. ( 23621501 )
2014
20
Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia. ( 25548590 )
2014
21
Madelung disease: multiple symmetric lipomatosis. ( 24652555 )
2014
22
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. ( 25393046 )
2014
23
Multiple symmetric lipomatosis: a diagnostic dilemma. ( 23983713 )
2013
24
Impaired gonadal function in a woman with multiple symmetric lipomatosis. ( 23732376 )
2013
25
Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. ( 23657050 )
2013
26
Multiple symmetric lipomatosis: a review of 3 cases. ( 22953128 )
2012
27
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. ( 22075714 )
2012
28
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. ( 22441442 )
2012
29
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. ( 23142763 )
2012
30
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. ( 21764493 )
2011
31
Multiple symmetric lipomatosis. ( 21781630 )
2011
32
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. ( 20190488 )
2010
33
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. ( 20714139 )
2010
34
Progressive myopathy with multiple symmetric lipomatosis. ( 20008669 )
2009
35
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. ( 24257048 )
2009
36
Central form of multiple symmetric lipomatosis: a case report. ( 19918431 )
2009
37
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. ( 18756923 )
2008
38
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. ( 18367347 )
2008
39
Multiple symmetric lipomatosis type 2 in females--report of two cases. ( 18358107 )
2008
40
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. ( 17329589 )
2007
41
Multiple symmetric lipomatosis: case report and review of the literature. ( 17577504 )
2007
42
Total and regional body composition and energy expenditure in multiple symmetric lipomatosis. ( 15896422 )
2005
43
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. ( 15124898 )
2004
44
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? ( 14988304 )
2004
45
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. ( 15220292 )
2004
46
Multiple symmetric lipomatosis: Korean experience. ( 12614415 )
2003
47
Differential clinical expression of multiple symmetric lipomatosis in men and women. ( 14574355 )
2003
48
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. ( 19078716 )
2003
49
Alcoholism as a trigger of multiple symmetric lipomatosis? ( 12702098 )
2003
50
Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. ( 12375271 )
2002

Variations for Lipomatosis, Multiple Symmetric

Expression for Lipomatosis, Multiple Symmetric

Search GEO for disease gene expression data for Lipomatosis, Multiple Symmetric.

Pathways for Lipomatosis, Multiple Symmetric

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

# Super pathways Score Top Affiliating Genes
1 11.62 LIPE MFN2 UCP1
2 11.39 LIPE UCP1
3 11.28 LIPE UCP1
4
Show member pathways
11.28 ANGPTL8 LIPE MLXIPL

GO Terms for Lipomatosis, Multiple Symmetric

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 IMMT MFN2 MRRF UCP1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 8.96 MFN2 UCP1
2 triglyceride homeostasis GO:0070328 8.62 ANGPTL8 MLXIPL

Sources for Lipomatosis, Multiple Symmetric

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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