MCID: LPM010
MIFTS: 39

Lipomatosis, Multiple Symmetric

Categories: Rare diseases, Skin diseases, Genetic 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 Apelin signaling pathway and Glucose / Energy Metabolism. Affiliated tissues include skin, adipocyte and thyroid, and related phenotypes are insulin resistance and multiple lipomas

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)

Related Diseases for Lipomatosis, Multiple Symmetric

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

# Related Disease Score Top Affiliating Genes
1 lipomatosis 29.0 LIPE MFN2 UCP1
2 lipodystrophy, partial, acquired 11.4
3 cervicitis 9.9
4 hepatitis 9.8
5 overnutrition 9.3 LIPE UCP1
6 body mass index quantitative trait locus 11 8.6 LIPE MFN2 UCP1

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

MGI Mouse Phenotypes related to Lipomatosis, Multiple Symmetric:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 ANGPTL8 LIPE UCP1

Drugs & Therapeutics for Lipomatosis, Multiple Symmetric

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277

Search 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, Thyroid

Publications for Lipomatosis, Multiple Symmetric

Articles related to Lipomatosis, Multiple Symmetric:

(show top 50) (show all 114)
# 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
Multiple Symmetric Lipomatosis. ( 28643398 )
2017
5
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. ( 28901441 )
2017
6
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
7
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. ( 28438575 )
2017
8
Multiple symmetric lipomatosis. ( 28680030 )
2017
9
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. ( 27018673 )
2016
10
Central nervous system involvement in multiple symmetric lipomatosis. ( 27772774 )
2016
11
Multiple symmetric lipomatosis with spindle cell proliferation. ( 26922721 )
2016
12
miR-125a-3p and miR-483-5p promote adipogenesis via suppressing the RhoA/ROCK1/ERK1/2 pathway in multiple symmetric lipomatosis. ( 26148871 )
2015
13
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. ( 26180731 )
2015
14
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. ( 26085578 )
2015
15
Multiple symmetric lipomatosis: A rare disease and its possible links to brown adipose tissue. ( 25770761 )
2015
16
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. ( 26256662 )
2015
17
Multiple symmetrical lipomatosis (Madelung's disease). ( 24626899 )
2014
18
Multiple symmetric lipomatosis: an unusual case. ( 23621501 )
2014
19
Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia. ( 25548590 )
2014
20
Madelung disease: multiple symmetric lipomatosis. ( 24652555 )
2014
21
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. ( 25393046 )
2014
22
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. ( 23524250 )
2013
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
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. ( 22974765 )
2013
27
Multiple symmetric lipomatosis: a review of 3 cases. ( 22953128 )
2012
28
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. ( 22075714 )
2012
29
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. ( 22392254 )
2012
30
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. ( 22441442 )
2012
31
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. ( 23142763 )
2012
32
Multiple symmetrical lipomatosis: case report and literature review. ( 22583757 )
2012
33
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. ( 21764493 )
2011
34
Multiple symmetric lipomatosis. ( 21781630 )
2011
35
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. ( 20190488 )
2010
36
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. ( 20714139 )
2010
37
Progressive myopathy with multiple symmetric lipomatosis. ( 20008669 )
2009
38
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. ( 24257048 )
2009
39
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. ( 20048140 )
2009
40
Central form of multiple symmetric lipomatosis: a case report. ( 19918431 )
2009
41
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. ( 18756923 )
2008
42
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. ( 18367347 )
2008
43
Multiple symmetric lipomatosis type 2 in females--report of two cases. ( 18358107 )
2008
44
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. ( 17329589 )
2007
45
Multiple symmetric lipomatosis: case report and review of the literature. ( 17577504 )
2007
46
Total and regional body composition and energy expenditure in multiple symmetric lipomatosis. ( 15896422 )
2005
47
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. ( 15124898 )
2004
48
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? ( 14988304 )
2004
49
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. ( 15220292 )
2004
50
Multiple symmetric lipomatosis: Korean experience. ( 12614415 )
2003

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 11.29 LIPE UCP1
2 11.29 LIPE MFN2 UCP1
3 11.08 LIPE UCP1

GO Terms for Lipomatosis, Multiple Symmetric

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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