MCID: LPM010
MIFTS: 29

Lipomatosis, Multiple Symmetric malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipomatosis, Multiple Symmetric

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Sources:
11Disease Ontology, 13DISEASES, 26GTR, 30ICD10 via Orphanet, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lipomatosis, Multiple Symmetric:

Name: Lipomatosis, Multiple Symmetric 51 49
Multiple Symmetric Lipomatosis 11 47 53 13
Lipomatosis, Familial Benign Cervical 11 67
Familial Benign Cervical Lipomatosis 53 26
Lipomatosis, Multiple Symmetrical 38 67
Benign Symmetrical Lipomatosis 47 67
Madelung Disease 47 53
Cervical Symmetrical Lipomatosis 11
 
Launois-Bensaude's Lipomatosis 11
Familial Symmetric Lipomatosis 47
Lipodystrophy, Cephalothoracic 11
Cephalothoracic Lipodystrophy 53
Launois-Bensaude Lipomatosis 53
Launois-Bensaude Syndrome 47
Madelung's Disease 47
Madelung's Neck 11

Characteristics:

Orphanet epidemiological data:

53
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

HPO:

63
lipomatosis, multiple symmetric:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 151800
Disease Ontology11 DOID:14116
MeSH38 D008069
NCIt44 C4392
SNOMED-CT61 63365006
Orphanet53 ORPHA2398
UMLS via Orphanet68 C2931642
ICD10 via Orphanet30 E88.8

Summaries for Lipomatosis, Multiple Symmetric

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NIH Rare Diseases:47 Multiple symmetric lipomatosis, also known as Madelung disease, 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 disease does not lead to cancer; however, lipomas can become cancerous in rare circumstances. The exact cause of the disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA. Treatment may include medications to correct associated metabolic conditions, surgery or liposuction to remove the lipomas, and avoidance of alcohol. Last updated: 12/13/2016

MalaCards based summary: Lipomatosis, Multiple Symmetric, also known as multiple symmetric lipomatosis, is related to multiple symmetrical lipomatosis and lipodystrophy, partial, acquired, and has symptoms including multiple lipomas, limitation of joint mobility and arthralgia. An important gene associated with Lipomatosis, Multiple Symmetric is MFN2 (Mitofusin 2), and among its related pathways are Adipogenesis and Glucose / Energy Metabolism. Affiliated tissues include skin.

OMIM:51 Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose... (151800) more...

Related Diseases for Lipomatosis, Multiple Symmetric

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1multiple symmetrical lipomatosis11.6
2lipodystrophy, partial, acquired11.2
3lipomatosis10.3
4malignant spindle cell melanoma9.9MFN2, UCP1
5cervicitis9.9
6noninfectious dermatoses of eyelid9.8MFN2, MT-TK
7hepatitis9.7
8laryngitis9.7
9lymphoepithelioma-like carcinoma9.7MFN2, MT-TK
10deafness, x-linked 59.5LIPE, UCP1
11tenosynovial giant cell tumor9.4MFN2, MT-TK, UCP1
12obesity9.4LIPE, MFN2, UCP1
13stiff-person syndrome8.7MFN2, MRRF, MT-TK, UCP1

Graphical network of diseases related to Lipomatosis, Multiple Symmetric:



Diseases related to lipomatosis, multiple symmetric

Symptoms for Lipomatosis, Multiple Symmetric

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Symptoms by clinical synopsis from OMIM:

151800

Clinical features from OMIM:

151800

Human phenotypes related to Lipomatosis, Multiple Symmetric:

 63 53 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lipomas63 53 hallmark (90%) Very frequent (99-80%) HP:0001012
2 limitation of joint mobility63 hallmark (90%) HP:0001376
3 arthralgia63 53 hallmark (90%) Very frequent (99-80%) HP:0002829
4 insulin resistance63 53 typical (50%) Frequent (79-30%) HP:0000855
5 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
6 reduced tendon reflexes63 53 typical (50%) Frequent (79-30%) HP:0001315
7 hepatomegaly63 53 typical (50%) Frequent (79-30%) HP:0002240
8 paresthesia63 53 typical (50%) Frequent (79-30%) HP:0003401
9 abnormality of the skin63 HP:0000951
10 peripheral neuropathy63 53 Frequent (79-30%) HP:0009830
11 lipoma63 HP:0012032
12 joint stiffness53 Very frequent (99-80%)
13 abnormality of adipose tissue53 Very frequent (99-80%)

Drugs & Therapeutics for Lipomatosis, Multiple Symmetric

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Insight Into Subcutaneous Adipose Tissue DisordersRecruitingNCT02838277

Search NIH Clinical Center for Lipomatosis, Multiple Symmetric


Cochrane evidence based reviews: lipomatosis, multiple symmetrical

Genetic Tests for Lipomatosis, Multiple Symmetric

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Genetic tests related to Lipomatosis, Multiple Symmetric:

id Genetic test Affiliating Genes
1 Lipomatosis Familial Benign Cervical26

Anatomical Context for Lipomatosis, Multiple Symmetric

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MalaCards organs/tissues related to Lipomatosis, Multiple Symmetric:

35
Skin

Animal Models for Lipomatosis, Multiple Symmetric or affiliated genes

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Publications for Lipomatosis, Multiple Symmetric

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Variations for Lipomatosis, Multiple Symmetric

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Expression for genes affiliated with Lipomatosis, Multiple Symmetric

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

Pathways for genes affiliated with Lipomatosis, Multiple Symmetric

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

idSuper pathwaysScoreTop Affiliating Genes
19.4LIPE, UCP1
29.0LIPE, MFN2, UCP1

GO Terms for genes affiliated with Lipomatosis, Multiple Symmetric

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Sources for Lipomatosis, Multiple Symmetric

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet