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 54
Multiple Symmetric Lipomatosis 12 20 58 15 17
Lipomatosis, Familial Benign Cervical 57 12 70
Lipomatosis, Multiple Symmetrical 44 70
Lipodystrophy, Cephalothoracic 57 12
Benign Symmetrical Lipomatosis 20 70
Madelung Disease 20 58
Familial Benign Cervical Lipomatosis 58
Lipomatosis Familial Benign Cervical 29
Cervical Symmetrical Lipomatosis 12
Multiple Symmetrical Lipomatosis 12
Launois-Bensaude's Lipomatosis 12
Familial Symmetric Lipomatosis 20
Cephalothoracic Lipodystrophy 58
Launois-Bensaude Lipomatosis 58
Launois-Bensaude Syndrome 20
Madelung's Disease 20
Madelung's Neck 12
Msl 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
lipomatosis, multiple symmetric:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:14116
OMIM® 57 151800
MeSH 44 D008069
NCIt 50 C4392
SNOMED-CT 67 238902007 65245004
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 71 C0023804 C0024445 C2931642
Orphanet 58 ORPHA2398
MedGen 41 C0023804
UMLS 70 C0023804 C0024445 C0028253 more

Summaries for Lipomatosis, Multiple Symmetric

GARD : 20 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 mutations 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 mitochondrial myopathy. An important gene associated with Lipomatosis, Multiple Symmetric is MFN2 (Mitofusin 2), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and breast, and related phenotypes are joint stiffness 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) (Updated 05-Apr-2021)

Wikipedia : 73 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 top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 lipomatosis 30.2 UCP1 MIR483 MFN2 CAPSL
2 mitochondrial myopathy 30.0 MT-TT MT-TA MFN2
3 chronic progressive external ophthalmoplegia 29.9 MYF5 MT-TA MFN2
4 body mass index quantitative trait locus 11 29.9 UCP1 MIR483 MIR140 MIR125A MFN2
5 lipodystrophy, partial, acquired 11.4
6 polyneuropathy 10.5
7 myopathy 10.4
8 autonomic neuropathy 10.4
9 hyperalphalipoproteinemia 1 10.3
10 myoclonic epilepsy associated with ragged-red fibers 10.3
11 early myoclonic encephalopathy 10.3
12 osteoporosis 10.3
13 bone mineral density quantitative trait locus 8 10.3
14 bone mineral density quantitative trait locus 15 10.3
15 exophthalmos 10.3
16 infant gynecomastia 10.2
17 gynecomastia 10.2
18 macrocytic anemia 10.2
19 hypobetalipoproteinemia, familial, 1 10.2
20 non-alcoholic fatty liver disease 10.2
21 hypothyroidism 10.2
22 overgrowth syndrome 10.2
23 acroosteolysis 10.2
24 apnea, obstructive sleep 10.2
25 type 2 diabetes mellitus 10.2
26 proteasome-associated autoinflammatory syndrome 1 10.2
27 body mass index quantitative trait locus 9 10.2
28 body mass index quantitative trait locus 8 10.2
29 body mass index quantitative trait locus 4 10.2
30 body mass index quantitative trait locus 10 10.2
31 body mass index quantitative trait locus 7 10.2
32 body mass index quantitative trait locus 12 10.2
33 body mass index quantitative trait locus 14 10.2
34 body mass index quantitative trait locus 18 10.2
35 body mass index quantitative trait locus 19 10.2
36 pyelonephritis 10.2
37 neutropenia 10.2
38 ovarian cyst 10.2
39 lymphopenia 10.2
40 raynaud phenomenon 10.2
41 paresthesia 10.2
42 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 10.1
43 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
44 dense deposit disease 10.1
45 bile duct adenocarcinoma 10.1 MIR483 MIR140 MIR125A
46 bile duct disease 10.1 MIR483 MIR140 MIR125A
47 bone inflammation disease 10.1 MIR483 MIR140 MIR125A
48 nasopharyngeal disease 10.1 MIR483 MIR140 MIR125A
49 ocular cancer 10.1 MIR483 MIR140 MIR125A
50 cell type benign neoplasm 10.1 MIR483 MIR140 MIR125A

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



Diseases related to Lipomatosis, Multiple Symmetric

Symptoms & Phenotypes for Lipomatosis, Multiple Symmetric

Human phenotypes related to Lipomatosis, Multiple Symmetric:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 multiple lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001012
3 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
6 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
7 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
8 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
9 peripheral neuropathy 58 31 Frequent (79-30%) HP:0009830
10 lipoma 31 HP:0012032
11 abnormality of the skin 31 HP:0000951
12 abnormal adipose tissue morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
neck collar of fat
multiple lipomata

Neuro:
somatic and autonomic neuropathy

Clinical features from OMIM®:

151800 (Updated 05-Apr-2021)

Drugs & Therapeutics for Lipomatosis, Multiple Symmetric

Drugs for Lipomatosis, Multiple Symmetric (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
3 Anti-Inflammatory Agents Phase 3
4 Hydrocortisone 17-butyrate 21-propionate Phase 3
5 Hydrocortisone hemisuccinate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study Not yet recruiting NCT04821583 Phase 3 Hydrocortisone;Placebo
2 Insight Into Subcutaneous Adipose Tissue Disorders As Part of The TREAT Program (Treatment, Research, Education, Adipose Tissue) at the University of Arizona Unknown status NCT02838277
3 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650

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:

40
Skin, Adipocyte, Breast, Tongue, Cerebellum

Publications for Lipomatosis, Multiple Symmetric

Articles related to Lipomatosis, Multiple Symmetric:

(show top 50) (show all 171)
# Title Authors PMID Year
1
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. 57 61
31186450 2019
2
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. 61 57
11850759 2002
3
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. 57 61
9674814 1998
4
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. 57 61
8190288 1994
5
Multiple symmetric lipomatosis. Ultrastructural investigation of the tissue and preadipocytes in primary culture. 57 61
2381166 1990
6
Familial multiple symmetric lipomatosis with peripheral neuropathy. 61 57
2166247 1990
7
Neuropathy in multiple symmetric lipomatosis. Madelung's disease. 57 61
3179687 1988
8
Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis. 57 61
4058304 1985
9
Multiple symmetric lipomatosis: an updated clinical report. 57 61
6318013 1984
10
Multiple symmetric lipomatosis: a defect in adrenergic-stimulated lipolysis. 57 61
199616 1977
11
Madelung disease: MR findings. 57
8237682 1993
12
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. 57
8447321 1993
13
Malignant degeneration in Madelung's disease (benign lipomatosis of the neck): case report. 57
6831098 1983
14
Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. 57
5416265 1970
15
A surgical view on the treatment of Madelung's disease. 20
26246230 2015
16
Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations. 54 61
11095987 2000
17
A non-alcohol-related case of Madelung's disease: Challenging patient with progressive jugular vein distension. 61
33777283 2021
18
LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells. 61
33112291 2021
19
Madelung Disease Epidemiology and Clinical Characteristics: a Systemic Review. 61
33492475 2021
20
Loss of FZO1 gene results in changes of cell dynamics in fission yeast. 61
33125111 2020
21
Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene. 61
32916636 2020
22
White Adipose Tissue Expansion in Multiple Symmetric Lipomatosis Is Associated with Upregulation of CK2, AKT and ERK1/2. 61
33114687 2020
23
A case report of Multiple Symmetric Lipomatosis (MSL) in an East Asian Female. 61
32928192 2020
24
Multiple symmetric lipomatosis with secondary laryngeal obstruction: A case report. 61
32629721 2020
25
Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat. 61
32157376 2020
26
Self-initiated lifestyle interventions lead to potential insight into an effective, alternative, non-surgical therapy for mitochondrial disease associated multiple symmetric lipomatosis. 61
32234544 2020
27
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis. 61
31912494 2020
28
Multiple symmetric lipomatosis of the male breast: An unusual mimic of gynecomastia. 61
32367886 2020
29
Imaging spectrum of abnormal subcutaneous and visceral fat distribution. 61
32056035 2020
30
Cbl Proto-Oncogene B (CBLB) c.197A>T Mutation Induces Mild Metabolic Dysfunction in Partial Type I Multiple Symmetric Lipomatosis (MSL). 61
33116705 2020
31
Genetic syndromes with localized subcutaneous fat tissue accumulation. 61
31577262 2019
32
Madelung's Disease Leading to Presenile Dementia in a Non-alcoholic Patient. 61
31762567 2019
33
Multiple symmetric lipomatosis: A clinical marker of mitochondrial cytopathy. 61
31347591 2019
34
Multiple Symmetric Lipomatosis in a Chronic Male Alcoholic. 61
30885009 2019
35
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. 61
30158064 2018
36
Madelung disease (multiple symmetric lipomatosis). 61
30101135 2018
37
Madelung's disease (multiple symmetric lipomatosis) in an alcoholic patient. 61
29680582 2018
38
Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort. 61
29876171 2018
39
Adipose tissue-derived stem cells from affected and unaffected areas in patients with multiple symmetric lipomatosis show differential regulation of mTOR pathway genes. 61
29758934 2018
40
Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant. 61
30283804 2018
41
Multiple Symmetric Lipomatosis. 61
28643398 2018
42
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. 61
28901441 2017
43
Multiple symmetric lipomatosis. 61
28680030 2017
44
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. 61
28438575 2017
45
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. 61
27862896 2017
46
Central nervous system involvement in multiple symmetric lipomatosis. 61
27772774 2016
47
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. 61
27427539 2016
48
Multiple symmetric lipomatosis with spindle cell proliferation. 61
26922721 2016
49
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. 61
27018673 2016
50
Adipose-Derived Stromal Cells from Lipomas: Isolation, Characterisation and Review of the Literature. 61
27225269 2016

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
Show member pathways
11.04 MT-TT MT-TC MT-TA

GO Terms for Lipomatosis, Multiple Symmetric

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.16 MIR140 MIR125A
2 negative regulation of vascular endothelial growth factor production GO:1904046 8.96 MIR140 MIR125A
3 positive regulation of vascular associated smooth muscle cell apoptotic process GO:1905461 8.62 MIR140 MFN2

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.13 MIR483 MIR140 MIR125A
2 RNA polymerase II complex binding GO:0000993 8.62 MIR140 MIR125A

Sources for Lipomatosis, Multiple Symmetric

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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