MCID: MLT002
MIFTS: 39

Multiple Symmetrical Lipomatosis

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Multiple Symmetrical Lipomatosis

MalaCards integrated aliases for Multiple Symmetrical Lipomatosis:

Name: Multiple Symmetrical Lipomatosis 12 14
Lipomatosis, Familial Benign Cervical 69
Lipomatosis, Multiple Symmetrical 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3137
MeSH 41 D008069
SNOMED-CT 64 238902007 254832003
UMLS 69 C0023804

Summaries for Multiple Symmetrical Lipomatosis

MalaCards based summary : Multiple Symmetrical Lipomatosis, also known as lipomatosis, familial benign cervical, is related to lipomatosis, multiple symmetric and lipomatosis. An important gene associated with Multiple Symmetrical Lipomatosis is MLXIPL (MLX Interacting Protein Like), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. Affiliated tissues include skin, adipocyte and thyroid, and related phenotypes are homeostasis/metabolism and cellular

Related Diseases for Multiple Symmetrical Lipomatosis

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 lipomatosis, multiple symmetric 33.7 MFN2 MT-TK UCP1
2 lipomatosis 31.7 MFN2 UCP1
3 sleep apnea 29.4 ADIPOQ IL6 LEP
4 body mass index quantitative trait locus 11 28.4 ADIPOQ IL6 LEP MFN2 MLXIPL RETN
5 neuropathy 10.2
6 abdominal obesity-metabolic syndrome 1 10.2 ADIPOQ LEP
7 nontuberculous mycobacterial lung disease 10.1 ADIPOQ LEP
8 body mass index quantitative trait locus 9 10.1
9 body mass index quantitative trait locus 8 10.1
10 body mass index quantitative trait locus 4 10.1
11 body mass index quantitative trait locus 10 10.1
12 body mass index quantitative trait locus 7 10.1
13 body mass index quantitative trait locus 12 10.1
14 body mass index quantitative trait locus 14 10.1
15 body mass index quantitative trait locus 18 10.1
16 myopathy 10.1
17 endocrine pancreas disease 10.1 ADIPOQ LEP
18 acanthosis nigricans 10.0 ADIPOQ LEP
19 infant gynecomastia 10.0
20 gynecomastia 10.0
21 laryngitis 10.0
22 intermediate coronary syndrome 10.0 IL6 SELP
23 protein-energy malnutrition 9.9 IL6 LEP
24 acquired generalized lipodystrophy 9.9 ADIPOQ LEP RETN
25 idiopathic recurrent pericarditis 9.9 ADIPOQ LEP RETN
26 lutheran suppressor, x-linked 9.9 ADIPOQ LEP RETN
27 mild pre-eclampsia 9.9 LEP VCAM1
28 bulimia nervosa 2 9.8 ADIPOQ LEP RETN
29 morbid obesity 9.8 ADIPOQ LEP RETN
30 lipid metabolism disorder 9.8 ADIPOQ LEP RETN
31 gestational diabetes 9.8 ADIPOQ LEP RETN
32 glucose intolerance 9.8 ADIPOQ LEP RETN
33 hyperalphalipoproteinemia 1 9.8
34 lipomatosis, multiple 9.8
35 mitochondrial myopathy 9.8
36 myoclonic epilepsy associated with ragged-red fibers 9.8
37 diabetes mellitus 9.8
38 autonomic neuropathy 9.8
39 polyneuropathy 9.8
40 epilepsy 9.8
41 plexopathy 9.8
42 thyroiditis 9.8
43 lipodystrophy 9.8
44 mitochondrial disorders 9.8
45 encephalomyopathy 9.8
46 myoclonus epilepsy 9.8
47 multiple endocrine neoplasia 9.8
48 encephalopathy 9.8
49 myoclonus 9.8
50 intermittent claudication 9.8 IL6 SELP

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



Diseases related to Multiple Symmetrical Lipomatosis

Symptoms & Phenotypes for Multiple Symmetrical Lipomatosis

MGI Mouse Phenotypes related to Multiple Symmetrical Lipomatosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 MFN2 GSK3B MLXIPL RETN IL6 SELP
2 cellular MP:0005384 10.01 ADIPOQ MFN2 GSK3B IL6 SELP LEP
3 cardiovascular system MP:0005385 9.98 ADIPOQ MFN2 GSK3B IL6 SELP LEP
4 growth/size/body region MP:0005378 9.97 ADIPOQ MFN2 GSK3B IL6 SELP LEP
5 adipose tissue MP:0005375 9.93 MLXIPL RETN IL6 LEP ADIPOQ UCP1
6 mortality/aging MP:0010768 9.81 MFN2 GSK3B MLXIPL IL6 SELP LEP
7 liver/biliary system MP:0005370 9.8 GSK3B MLXIPL RETN IL6 SELP LEP
8 renal/urinary system MP:0005367 9.35 LEP ADIPOQ GSK3B IL6 SELP
9 skeleton MP:0005390 9.1 LEP ADIPOQ MFN2 GSK3B IL6 SELP

Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277

Search NIH Clinical Center for Multiple Symmetrical Lipomatosis

Genetic Tests for Multiple Symmetrical Lipomatosis

Anatomical Context for Multiple Symmetrical Lipomatosis

MalaCards organs/tissues related to Multiple Symmetrical Lipomatosis:

38
Skin, Adipocyte, Thyroid

Publications for Multiple Symmetrical Lipomatosis

Articles related to Multiple Symmetrical Lipomatosis:

(show top 50) (show all 110)
# Title Authors Year
1
Multiple Symmetric Lipomatosis. ( 28643398 )
2017
2
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
3
Multiple symmetric lipomatosis. ( 28680030 )
2017
4
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. ( 28901441 )
2017
5
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. ( 28438575 )
2017
6
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. ( 27018673 )
2016
7
Central nervous system involvement in multiple symmetric lipomatosis. ( 27772774 )
2016
8
Multiple symmetric lipomatosis with spindle cell proliferation. ( 26922721 )
2016
9
miR-125a-3p and miR-483-5p promote adipogenesis via suppressing the RhoA/ROCK1/ERK1/2 pathway in multiple symmetric lipomatosis. ( 26148871 )
2015
10
Multiple symmetric lipomatosis: A rare disease and its possible links to brown adipose tissue. ( 25770761 )
2015
11
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. ( 26256662 )
2015
12
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. ( 26180731 )
2015
13
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. ( 26085578 )
2015
14
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. ( 25393046 )
2014
15
Multiple symmetric lipomatosis: an unusual case. ( 23621501 )
2014
16
Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia. ( 25548590 )
2014
17
Multiple symmetrical lipomatosis (Madelung's disease). ( 24626899 )
2014
18
Madelung disease: multiple symmetric lipomatosis. ( 24652555 )
2014
19
Multiple symmetric lipomatosis: a diagnostic dilemma. ( 23983713 )
2013
20
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. ( 22974765 )
2013
21
Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. ( 23657050 )
2013
22
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. ( 23524250 )
2013
23
Impaired gonadal function in a woman with multiple symmetric lipomatosis. ( 23732376 )
2013
24
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. ( 22075714 )
2012
25
Multiple symmetrical lipomatosis: case report and literature review. ( 22583757 )
2012
26
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. ( 23142763 )
2012
27
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. ( 22441442 )
2012
28
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. ( 22392254 )
2012
29
Multiple symmetric lipomatosis: a review of 3 cases. ( 22953128 )
2012
30
Multiple symmetric lipomatosis. ( 21781630 )
2011
31
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. ( 21764493 )
2011
32
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. ( 20714139 )
2010
33
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. ( 20190488 )
2010
34
Progressive myopathy with multiple symmetric lipomatosis. ( 20008669 )
2009
35
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. ( 20048140 )
2009
36
Central form of multiple symmetric lipomatosis: a case report. ( 19918431 )
2009
37
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. ( 24257048 )
2009
38
Multiple symmetric lipomatosis type 2 in females--report of two cases. ( 18358107 )
2008
39
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. ( 18367347 )
2008
40
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. ( 18756923 )
2008
41
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. ( 17329589 )
2007
42
Multiple symmetric lipomatosis: case report and review of the literature. ( 17577504 )
2007
43
Total and regional body composition and energy expenditure in multiple symmetric lipomatosis. ( 15896422 )
2005
44
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? ( 14988304 )
2004
45
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. ( 15220292 )
2004
46
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. ( 15124898 )
2004
47
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. ( 19078716 )
2003
48
Alcoholism as a trigger of multiple symmetric lipomatosis? ( 12702098 )
2003
49
Multiple symmetric lipomatosis: Korean experience. ( 12614415 )
2003
50
Differential clinical expression of multiple symmetric lipomatosis in men and women. ( 14574355 )
2003

Variations for Multiple Symmetrical Lipomatosis

Expression for Multiple Symmetrical Lipomatosis

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

Pathways for Multiple Symmetrical Lipomatosis

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 ADIPOQ GSK3B IL6 LEP MLXIPL UCP1
2
Show member pathways
12.33 ADIPOQ GSK3B IL6 LEP RETN
3 12.19 ADIPOQ GSK3B MFN2 UCP1
4 12.11 GSK3B IL6 VCAM1
6 11.71 IL6 LEP SELP
7
Show member pathways
11.65 GSK3B IL6 MLXIPL
8 11.47 ADIPOQ IL6 LEP RETN UCP1
9 11.19 IL6 SELP VCAM1
10 11.05 IL6 VCAM1
11 11 ADIPOQ IL6 LEP UCP1 VCAM1
12 10.89 ADIPOQ LEP
13 10.67 ADIPOQ IL6 LEP

GO Terms for Multiple Symmetrical Lipomatosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.1 ADIPOQ IL6 LEP RETN SELP VCAM1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.81 ADIPOQ IL6 LEP RETN
2 response to hypoxia GO:0001666 9.7 ADIPOQ LEP VCAM1
3 response to ethanol GO:0045471 9.63 ADIPOQ LEP VCAM1
4 glucose homeostasis GO:0042593 9.61 ADIPOQ LEP MLXIPL
5 response to activity GO:0014823 9.58 ADIPOQ LEP
6 circadian rhythm GO:0007623 9.58 ADIPOQ GSK3B LEP
7 regulation of angiogenesis GO:0045765 9.57 IL6 LEP
8 negative regulation of smooth muscle cell proliferation GO:0048662 9.56 ADIPOQ MFN2
9 brown fat cell differentiation GO:0050873 9.55 ADIPOQ UCP1
10 leukocyte cell-cell adhesion GO:0007159 9.54 SELP VCAM1
11 response to nutrient GO:0007584 9.5 ADIPOQ LEP VCAM1
12 calcium-mediated signaling using intracellular calcium source GO:0035584 9.49 SELP VCAM1
13 positive regulation of JAK-STAT cascade GO:0046427 9.48 IL6 LEP
14 positive regulation of T cell proliferation GO:0042102 9.43 IL6 LEP VCAM1
15 negative regulation of lipid storage GO:0010888 9.37 IL6 LEP
16 positive regulation of STAT protein import into nucleus GO:2000366 9.16 IL6 LEP
17 response to nutrient levels GO:0031667 9.13 ADIPOQ LEP UCP1
18 leukocyte tethering or rolling GO:0050901 8.8 LEP SELP VCAM1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 ADIPOQ LEP RETN
2 sialic acid binding GO:0033691 8.62 ADIPOQ SELP

Sources for Multiple Symmetrical Lipomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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