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, 27GTR, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lipomatosis, Multiple Symmetric:

Name: Lipomatosis, Multiple Symmetric 52 50
Multiple Symmetric Lipomatosis 11 48 54 13
Lipomatosis, Familial Benign Cervical 11 68
Familial Benign Cervical Lipomatosis 54 27
Lipomatosis, Multiple Symmetrical 39 68
Benign Symmetrical Lipomatosis 48 68
Madelung Disease 48 54
Cervical Symmetrical Lipomatosis 11
 
Launois-Bensaude's Lipomatosis 11
Familial Symmetric Lipomatosis 48
Lipodystrophy, Cephalothoracic 11
Cephalothoracic Lipodystrophy 54
Launois-Bensaude Lipomatosis 54
Launois-Bensaude Syndrome 48
Madelung's Disease 48
Madelung's Neck 11

Characteristics:

Orphanet epidemiological data:

54
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:

64
lipomatosis, multiple symmetric:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 151800
Disease Ontology11 DOID:14116
MeSH39 D008069
NCIt45 C4392
SNOMED-CT62 63365006
Orphanet54 ORPHA2398
UMLS via Orphanet69 C2931642
ICD10 via Orphanet31 E88.8

Summaries for Lipomatosis, Multiple Symmetric

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NIH Rare Diseases:48 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. last updated: 4/11/2017

MalaCards based summary: Lipomatosis, Multiple Symmetric, also known as multiple symmetric lipomatosis, is related to lipodystrophy, partial, acquired and multiple symmetrical lipomatosis, and has symptoms including Array, Array and Array. An important gene associated with Lipomatosis, Multiple Symmetric is MFN2 (Mitofusin 2), and among its related pathways are Apelin signaling pathway and Adipogenesis. Affiliated tissues include skin.

OMIM:52 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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Graphical network of diseases related to Lipomatosis, Multiple Symmetric:



Diseases related to lipomatosis, multiple symmetric

Symptoms & Phenotypes 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:

 54 64 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 insulin resistance64 54 Frequent (79-30%) HP:0000855
2 multiple lipomas64 54 Very frequent (99-80%) HP:0001012
3 gait disturbance64 54 Frequent (79-30%) HP:0001288
4 reduced tendon reflexes64 54 Frequent (79-30%) HP:0001315
5 joint stiffness64 54 Very frequent (99-80%) HP:0001387
6 hepatomegaly64 54 Frequent (79-30%) HP:0002240
7 arthralgia64 54 Very frequent (99-80%) HP:0002829
8 paresthesia64 54 Frequent (79-30%) HP:0003401
9 abnormality of adipose tissue54 Very frequent (99-80%)
10 peripheral neuropathy64 54 Frequent (79-30%) HP:0009830
11 abnormality of the skin64 HP:0000951
12 lipoma64 HP:0012032

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 Cervical27

Anatomical Context for Lipomatosis, Multiple Symmetric

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MalaCards organs/tissues related to Lipomatosis, Multiple Symmetric:

36
Skin

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
29.4LIPE, UCP1
39.0LIPE, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet