MCID: MLT002
MIFTS: 36

Multiple Symmetrical Lipomatosis malady

Categories: Skin diseases, Genetic diseases

Aliases & Classifications for Multiple Symmetrical Lipomatosis

Aliases & Descriptions 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 42 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 MFN2 (Mitofusin 2), 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 growth/size/body region

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 64)
id Related Disease Score Top Affiliating Genes
1 lipomatosis, multiple symmetric 12.0
2 lipomatosis 10.8
3 mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, protection against, included 10.2 MFN2 MT-TK UCP1
4 neuropathy 10.1
5 obesity 10.0
6 nystagmus, congenital motor, autosomal recessive 10.0 ADIPOQ LEP
7 myopathy 10.0
8 acrocephalopolydactyly 10.0 ADIPOQ LEP RETN
9 malignant perineurioma 10.0 ADIPOQ LEP RETN
10 not otherwise specified 3-mga-uria type 10.0 ADIPOQ LEP RETN
11 cataract 20, multiple types 9.9 ADIPOQ LEP RETN
12 hyperlipoproteinemia type iv 9.9 ADIPOQ IL6 LEP
13 mucopolysaccharidosis iii 9.9 ADIPOQ LEP RETN
14 thymus clear cell carcinoma 9.9 ADIPOQ LEP RETN
15 antidepressant type abuse 9.9 ADIPOQ LEP RETN
16 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 9.9 ADIPOQ LEP RETN
17 diabetic encephalopathy 9.9 ADIPOQ IL6 LEP
18 laryngitis 9.9
19 pleural tuberculosis 9.9 LEP VCAM1
20 blind loop syndrome 9.9 ADIPOQ LEP RETN
21 ependymoblastoma 9.8 SELP VCAM1
22 meningitis 9.8 ADIPOQ IL6 LEP MLXIPL
23 exophthalmic ophthalmoplegia 9.8 ADIPOQ LEP VCAM1
24 cryptosporidiosis 9.8 IL6 SELP
25 lymphoid leukemia 9.8 ADIPOQ IL6 LEP
26 peroneal neuropathy 9.8 ADIPOQ IL6 LEP RETN
27 chronic tic disorder 9.8 ADIPOQ LEP VCAM1
28 epilepsy 9.7
29 plexopathy 9.7
30 thyroiditis 9.7
31 lipodystrophy 9.7
32 mitochondrial disorders 9.7
33 hyperalphalipoproteinemia 9.7
34 encephalomyopathy 9.7
35 lipoma 9.7
36 myoclonus epilepsy 9.7
37 multiple endocrine neoplasia 9.7
38 sleep apnea 9.7
39 encephalopathy 9.7
40 autonomic neuropathy 9.7
41 myoclonus 9.7
42 gynecomastia 9.7
43 polyneuropathy 9.7
44 focal dystonia 9.7 IL6 SELP VCAM1
45 limb ischemia 9.7 ADIPOQ IL6 LEP SELP
46 congenital chloride diarrhea 9.7 IL6 SELP VCAM1
47 macular degeneration, age-related, 12 9.7 ADIPOQ IL6 RETN SELP
48 hypertension, essential 9.7 ADIPOQ LEP RETN SELP
49 chronic myocardial ischemia 9.7 IL6 LEP VCAM1
50 cervix small cell carcinoma 9.7 IL6 SELP VCAM1

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 ADIPOQ GSK3B IL6 LEP MFN2 MLXIPL
2 growth/size/body region MP:0005378 9.97 SELP UCP1 VCAM1 ADIPOQ GSK3B IL6
3 cardiovascular system MP:0005385 9.95 ADIPOQ GSK3B IL6 LEP MFN2 SELP
4 adipose tissue MP:0005375 9.91 ADIPOQ IL6 LEP MLXIPL RETN UCP1
5 immune system MP:0005387 9.8 ADIPOQ GSK3B IL6 LEP RETN SELP
6 liver/biliary system MP:0005370 9.7 SELP ADIPOQ GSK3B IL6 LEP MLXIPL
7 renal/urinary system MP:0005367 9.35 ADIPOQ GSK3B IL6 LEP SELP
8 skeleton MP:0005390 9.1 ADIPOQ GSK3B IL6 LEP MFN2 SELP

Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
Skin, Adipocyte, Thyroid

Publications for Multiple Symmetrical Lipomatosis

Articles related to Multiple Symmetrical Lipomatosis:

(show top 50) (show all 106)
id Title Authors Year
1
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
2
Multiple symmetric lipomatosis with spindle cell proliferation. ( 26922721 )
2016
3
Central nervous system involvement in multiple symmetric lipomatosis. ( 27772774 )
2016
4
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. ( 27018673 )
2016
5
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. ( 26085578 )
2015
6
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. ( 26180731 )
2015
7
miR-125a-3p and miR-483-5p promote adipogenesis via suppressing the RhoA/ROCK1/ERK1/2 pathway in multiple symmetric lipomatosis. ( 26148871 )
2015
8
Multiple symmetric lipomatosis: A rare disease and its possible links to brown adipose tissue. ( 25770761 )
2015
9
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. ( 26256662 )
2015
10
Madelung disease: multiple symmetric lipomatosis. ( 24652555 )
2014
11
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. ( 25393046 )
2014
12
Multiple symmetrical lipomatosis (Madelung's disease). ( 24626899 )
2014
13
Multiple symmetric lipomatosis: an unusual case. ( 23621501 )
2014
14
Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia. ( 25548590 )
2014
15
Impaired gonadal function in a woman with multiple symmetric lipomatosis. ( 23732376 )
2013
16
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. ( 23524250 )
2013
17
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. ( 22974765 )
2013
18
Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. ( 23657050 )
2013
19
Multiple symmetric lipomatosis: a diagnostic dilemma. ( 23983713 )
2013
20
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. ( 22075714 )
2012
21
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. ( 22441442 )
2012
22
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. ( 22392254 )
2012
23
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. ( 23142763 )
2012
24
Multiple symmetrical lipomatosis: case report and literature review. ( 22583757 )
2012
25
Multiple symmetric lipomatosis: a review of 3 cases. ( 22953128 )
2012
26
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. ( 21764493 )
2011
27
Multiple symmetric lipomatosis. ( 21781630 )
2011
28
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. ( 20190488 )
2010
29
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. ( 20714139 )
2010
30
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. ( 24257048 )
2009
31
Progressive myopathy with multiple symmetric lipomatosis. ( 20008669 )
2009
32
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. ( 20048140 )
2009
33
Central form of multiple symmetric lipomatosis: a case report. ( 19918431 )
2009
34
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. ( 18367347 )
2008
35
Multiple symmetric lipomatosis type 2 in females--report of two cases. ( 18358107 )
2008
36
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. ( 18756923 )
2008
37
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. ( 17329589 )
2007
38
Multiple symmetric lipomatosis: case report and review of the literature. ( 17577504 )
2007
39
Total and regional body composition and energy expenditure in multiple symmetric lipomatosis. ( 15896422 )
2005
40
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. ( 15220292 )
2004
41
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. ( 15124898 )
2004
42
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? ( 14988304 )
2004
43
Differential clinical expression of multiple symmetric lipomatosis in men and women. ( 14574355 )
2003
44
Multiple symmetric lipomatosis: Korean experience. ( 12614415 )
2003
45
Alcoholism as a trigger of multiple symmetric lipomatosis? ( 12702098 )
2003
46
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. ( 19078716 )
2003
47
Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. ( 12375271 )
2002
48
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. ( 11850759 )
2002
49
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. ( 11844905 )
2002
50
Are 'buffalo hump' syndrome, Madelung's disease and multiple symmetrical lipomatosis variants of the same dysmetabolism? ( 11216947 )
2001

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 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 ADIPOQ GSK3B IL6 LEP MLXIPL UCP1
2
Show member pathways
12.41 ADIPOQ GSK3B IL6 LEP RETN
3 12.17 ADIPOQ GSK3B MFN2 UCP1
5 11.71 IL6 LEP SELP
6
Show member pathways
11.65 GSK3B IL6 MLXIPL
7 11.47 ADIPOQ IL6 LEP RETN UCP1
8 11.12 IL6 SELP VCAM1
9 11.05 IL6 VCAM1
10 11 ADIPOQ IL6 LEP UCP1 VCAM1
11 10.89 ADIPOQ LEP
12 10.67 ADIPOQ IL6 LEP

GO Terms for Multiple Symmetrical Lipomatosis

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

id 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 25)
id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.77 IL6 SELP VCAM1
2 aging GO:0007568 9.76 IL6 RETN VCAM1
3 response to hypoxia GO:0001666 9.75 ADIPOQ LEP VCAM1
4 response to ethanol GO:0045471 9.7 ADIPOQ LEP VCAM1
5 circadian rhythm GO:0007623 9.63 ADIPOQ GSK3B LEP
6 response to cold GO:0009409 9.62 IL6 UCP1
7 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.62 IL6 LEP
8 regulation of angiogenesis GO:0045765 9.61 IL6 LEP
9 brown fat cell differentiation GO:0050873 9.61 ADIPOQ UCP1
10 negative regulation of smooth muscle cell proliferation GO:0048662 9.59 ADIPOQ MFN2
11 response to nutrient GO:0007584 9.58 ADIPOQ LEP VCAM1
12 leukocyte cell-cell adhesion GO:0007159 9.57 SELP VCAM1
13 positive regulation of JAK-STAT cascade GO:0046427 9.56 IL6 LEP
14 calcium-mediated signaling using intracellular calcium source GO:0035584 9.55 SELP VCAM1
15 cellular response to hepatocyte growth factor stimulus GO:0035729 9.54 GSK3B IL6
16 response to insulin GO:0032868 9.54 IL6 LEP RETN
17 negative regulation of gluconeogenesis GO:0045721 9.51 ADIPOQ IL6
18 positive regulation of T cell proliferation GO:0042102 9.5 IL6 LEP VCAM1
19 acute inflammatory response GO:0002526 9.49 IL6 VCAM1
20 negative regulation of hormone secretion GO:0046888 9.48 ADIPOQ IL6
21 glucose homeostasis GO:0042593 9.46 ADIPOQ IL6 LEP MLXIPL
22 negative regulation of lipid storage GO:0010888 9.43 IL6 LEP
23 positive regulation of STAT protein import into nucleus GO:2000366 9.26 IL6 LEP
24 leukocyte tethering or rolling GO:0050901 9.13 LEP SELP VCAM1
25 response to nutrient levels GO:0031667 8.92 ADIPOQ IL6 LEP UCP1

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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