MCID: MLT012
MIFTS: 40

Multiple Symmetric Lipomatosis malady

Genetic diseases, Skin diseases, Rare diseases categories

Aliases & Classifications for Multiple Symmetric Lipomatosis

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 47Novoseek, 24GTR, 36MeSH, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Multiple Symmetric Lipomatosis:

Name: Multiple Symmetric Lipomatosis 10 12 51
Lipomatosis, Familial Benign Cervical 10 65
Familial Benign Cervical Lipomatosis 51 24
Lipomatosis, Multiple Symmetrical 65 36
Cervical Symmetrical Lipomatosis 10
Lipomatosis, Multiple Symmetric 47
Launois-Bensaude's Lipomatosis 10
 
Benign Symmetrical Lipomatosis 65
Lipodystrophy, Cephalothoracic 10
Cephalothoracic Lipodystrophy 51
Launois-Bensaude Lipomatosis 51
Madelung Disease 51
Madelung's Neck 10


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
multiple symmetric lipomatosis:
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: 1-9/100000 (Italy); Age of onset: Adult; Age of death: elderly


External Ids:

Disease Ontology10 DOID:14116
NCIt42 C4392
MeSH36 D008069
Orphanet51 2398
ICD10 via Orphanet28 E88.8
UMLS via Orphanet66 C2931642

Summaries for Multiple Symmetric Lipomatosis

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MalaCards based summary: Multiple Symmetric Lipomatosis, also known as lipomatosis, familial benign cervical, is related to multiple symmetrical lipomatosis and lipomatosis, and has symptoms including multiple lipomas, limitation of joint mobility and arthralgia. An important gene associated with Multiple Symmetric Lipomatosis is UCP1 (Uncoupling Protein 1 (Mitochondrial, Proton Carrier)), and among its related pathways is Adipogenesis. Affiliated tissues include skin, liver and adipocyte.

Related Diseases for Multiple Symmetric Lipomatosis

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



Diseases related to multiple symmetric lipomatosis

Symptoms for Multiple Symmetric Lipomatosis

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Symptoms:

 51 (show all 10)
  • xanthomas/lipomas
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • abnormal fat distribution/lipodystrophy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • insulin resistance
  • peripheral neuropathy
  • abnormal gait
  • areflexia/hyporeflexia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness

HPO human phenotypes related to Multiple Symmetric Lipomatosis:

(show all 12)
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 autosomal dominant inheritance HP:0000006
10 abnormality of the skin HP:0000951
11 peripheral neuropathy HP:0009830
12 lipoma HP:0012032

Drugs & Therapeutics for Multiple Symmetric Lipomatosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Symmetric Lipomatosis


Cochrane evidence based reviews: Lipomatosis, Multiple Symmetrical

Genetic Tests for Multiple Symmetric Lipomatosis

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Genetic tests related to Multiple Symmetric Lipomatosis:

id Genetic test Affiliating Genes
1 Lipomatosis Familial Benign Cervical24

Anatomical Context for Multiple Symmetric Lipomatosis

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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

33
Skin, Liver, Adipocyte, Thyroid

Animal Models for Multiple Symmetric Lipomatosis or affiliated genes

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Publications for Multiple Symmetric Lipomatosis

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Articles related to Multiple Symmetric Lipomatosis:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. (26256662)
2015
2
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. (26180731)
2015
3
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. (25393046)
2014
4
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
5
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
6
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
7
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
8
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. (23142763)
2012
9
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
10
Multiple symmetric lipomatosis. (21781630)
2011
11
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
12
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
13
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
2009
14
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
15
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
16
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
17
Multiple symmetric lipomatosis: case report and review of the literature. (17577504)
2007
18
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. (17329589)
2007
19
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? (14988304)
2004
20
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
21
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
22
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
23
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
24
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
25
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
26
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
27
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
28
Ultrasound, CT and MRI in patients with multiple symmetric lipomatosis. (10650121)
2000
29
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
30
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
31
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
32
Multiple symmetric lipomatosis in the Chinese: ultrasound, CT and MR imaging. (9867274)
1998
33
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis. (9879833)
1998
34
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
35
RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. (7531972)
1995
36
Multiple symmetrical lipomatosis: no longer just a Mediterranean disease? (8202317)
1994
37
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. (8190288)
1994
38
An uncommon presentation of multiple symmetric lipomatosis. (8407077)
1993
39
Multiple symmetrical lipomatosis. (1521476)
1992
40
Multiple symmetrical lipomatosis in the neck. (1524810)
1992
41
Multiple symmetric lipomatosis (Launois-Bensaude syndrome). (1559745)
1992
42
Multiple symmetric lipomatosis. (3267365)
1988
43
Multiple symmetric lipomatosis: treatment with liposuction. (3346417)
1988
44
Neuropathy in multiple symmetric lipomatosis. Madelung's disease. (3179687)
1988
45
Multiple symmetric lipomatosis: report of two cases and review of the literature. (3799134)
1986
46
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
47
Impairment of cardiovascular autonomic reflexes in multiple symmetric lipomatosis. (6491158)
1984
48
Multiple symmetric lipomatosis: an updated clinical report. (6318013)
1984
49
Ultrastructural features of cultured mature adipocyte precursors from adipose tissue in multiple symmetric lipomatosis. (6670139)
1983
50
Adrenergic regulation of fat-cell lipolysis in multiple symmetric lipomatosis. (6129978)
1982

Variations for Multiple Symmetric Lipomatosis

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Expression for genes affiliated with Multiple Symmetric Lipomatosis

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

Pathways for genes affiliated with Multiple Symmetric Lipomatosis

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PPARGC1A, UCP1

GO Terms for genes affiliated with Multiple Symmetric Lipomatosis

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.1IMMT, SDHB, UCP1
2mitochondrionGO:00057398.3IMMT, MRRF, SDHB, UCP1

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

idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:00508739.8PPARGC1A, UCP1
2cellular metabolic processGO:00442379.6SDHB, UCP1
3respiratory electron transport chainGO:00229048.8PPARGC1A, SDHB, UCP1

Sources for Multiple Symmetric Lipomatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet