MCID: LPM010
MIFTS: 27

Lipomatosis, Multiple Symmetric malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Lipomatosis, Multiple Symmetric

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Sources:
50OMIM, 11Disease Ontology, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lipomatosis, Multiple Symmetric:

Name: Lipomatosis, Multiple Symmetric 50 48
Multiple Symmetric Lipomatosis 11 13 52
Lipomatosis, Familial Benign Cervical 11 66
Familial Benign Cervical Lipomatosis 52 25
Lipomatosis, Multiple Symmetrical 37 66
Cervical Symmetrical Lipomatosis 11
Lipodystrophy, Cephalothoracic 11
 
Launois-Bensaude's Lipomatosis 11
Benign Symmetrical Lipomatosis 66
Cephalothoracic Lipodystrophy 52
Launois-Bensaude Lipomatosis 52
Madelung Disease 52
Madelung's Neck 11

Characteristics:

Orphanet epidemiological data:

52
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:

62
lipomatosis, multiple symmetric:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 151800
Disease Ontology11 DOID:14116
MeSH37 D008069
NCIt43 C4392
SNOMED-CT60 63365006
Orphanet52 ORPHA2398
ICD10 via Orphanet29 E88.8
UMLS via Orphanet67 C2931642

Summaries for Lipomatosis, Multiple Symmetric

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OMIM:50 Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose... (151800) more...

MalaCards based summary: Lipomatosis, Multiple Symmetric, also known as multiple symmetric lipomatosis, is related to multiple symmetrical lipomatosis and madelung disease, 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 is Glucose / Energy Metabolism. Affiliated tissues include skin.

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:

idRelated DiseaseScoreTop Affiliating Genes
1multiple symmetrical lipomatosis11.7
2madelung disease11.2
3lipodystrophy, partial, acquired11.2
4lipomatosis10.4
5malignant spindle cell melanoma9.9MFN2, UCP1
6leigh syndrome9.7IMMT, MT-TK
7noninfectious dermatoses of eyelid9.7MFN2, MT-TK
8lymphoepithelioma-like carcinoma9.5MFN2, MT-TK
9tenosynovial giant cell tumor9.3MFN2, MT-TK, UCP1
10stiff-person syndrome8.1IMMT, MFN2, 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

Symptoms:

 52 (show all 10)
  • insulin resistance
  • multiple lipomas
  • gait disturbance
  • reduced tendon reflexes
  • joint stiffness
  • hepatomegaly
  • arthralgia
  • paresthesia
  • abnormality of adipose tissue
  • peripheral neuropathy

HPO human phenotypes related to Lipomatosis, Multiple Symmetric:

(show all 11)
id Description Frequency HPO Source Accession
1 multiple lipomas hallmark (90%) HP:0001012
2 limitation of joint mobility hallmark (90%) HP:0001376
3 arthralgia hallmark (90%) HP:0002829
4 insulin resistance typical (50%) HP:0000855
5 gait disturbance typical (50%) HP:0001288
6 reduced tendon reflexes typical (50%) HP:0001315
7 hepatomegaly typical (50%) HP:0002240
8 paresthesia typical (50%) HP:0003401
9 abnormality of the skin HP:0000951
10 peripheral neuropathy HP:0009830
11 lipoma 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 Cervical25

Anatomical Context for Lipomatosis, Multiple Symmetric

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MalaCards organs/tissues related to Lipomatosis, Multiple Symmetric:

34
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
19.5MFN2, UCP1

GO Terms for genes affiliated with Lipomatosis, Multiple Symmetric

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.2IMMT, MFN2, MRRF, UCP1

Sources for Lipomatosis, Multiple Symmetric

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet