MCID: MLT002
MIFTS: 36

Multiple Symmetrical Lipomatosis malady

Categories: Genetic diseases (common), Skin diseases

Aliases & Classifications for Multiple Symmetrical Lipomatosis

About this section

Aliases & Descriptions for Multiple Symmetrical Lipomatosis:

Name: Multiple Symmetrical Lipomatosis 11 13
Lipomatosis, Familial Benign Cervical 68
 
Lipomatosis, Multiple Symmetrical 68

Classifications:



External Ids:

Disease Ontology11 DOID:3137
MeSH39 D008069

Summaries for Multiple Symmetrical Lipomatosis

About this section
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 are Differentiation of white and brown adipocyte and Insulin resistance. Affiliated tissues include skin, adipocyte and thyroid, and related mouse phenotypes are adipose tissue and renal/urinary system.

Related Diseases for Multiple Symmetrical Lipomatosis

About this section

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1lipomatosis, multiple symmetric12.0
2lipomatosis10.8
3mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, protection against, included10.2MFN2, MT-TK, UCP1
4neuropathy10.1
5obesity10.0
6nystagmus, congenital motor, autosomal recessive10.0ADIPOQ, LEP
7myopathy10.0
8acrocephalopolydactyly10.0ADIPOQ, LEP, RETN
9malignant perineurioma10.0ADIPOQ, LEP, RETN
10not otherwise specified 3-mga-uria type10.0ADIPOQ, LEP, RETN
11cataract 20, multiple types9.9ADIPOQ, LEP, RETN
12hyperlipoproteinemia type iv9.9ADIPOQ, IL6, LEP
13mucopolysaccharidosis iii9.9ADIPOQ, LEP, RETN
14thymus clear cell carcinoma9.9ADIPOQ, LEP, RETN
15antidepressant type abuse9.9ADIPOQ, LEP, RETN
16hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy9.9ADIPOQ, LEP, RETN
17diabetic encephalopathy9.9ADIPOQ, IL6, LEP
18laryngitis9.9
19pleural tuberculosis9.9LEP, VCAM1
20blind loop syndrome9.9ADIPOQ, LEP, RETN
21ependymoblastoma9.8SELP, VCAM1
22meningitis9.8ADIPOQ, IL6, LEP, MLXIPL
23exophthalmic ophthalmoplegia9.8ADIPOQ, LEP, VCAM1
24cryptosporidiosis9.8IL6, SELP
25lymphoid leukemia9.8ADIPOQ, IL6, LEP
26peroneal neuropathy9.8ADIPOQ, IL6, LEP, RETN
27chronic tic disorder9.8ADIPOQ, LEP, VCAM1
28hyperalphalipoproteinemia9.7
29lipoma9.7
30sleep apnea9.7
31autonomic neuropathy9.7
32gynecomastia9.7
33polyneuropathy9.7
34epilepsy9.7
35plexopathy9.7
36thyroiditis9.7
37lipodystrophy9.7
38mitochondrial disorders9.7
39encephalomyopathy9.7
40myoclonus epilepsy9.7
41multiple endocrine neoplasia9.7
42encephalopathy9.7
43myoclonus9.7
44focal dystonia9.7IL6, SELP, VCAM1
45limb ischemia9.7ADIPOQ, IL6, LEP, SELP
46congenital chloride diarrhea9.7IL6, SELP, VCAM1
47macular degeneration, age-related, 129.7ADIPOQ, IL6, RETN, SELP
48hypertension, essential9.7ADIPOQ, LEP, RETN, SELP
49chronic myocardial ischemia9.7IL6, LEP, VCAM1
50cervix small cell carcinoma9.7IL6, 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

About this section

MGI Mouse Phenotypes related to Multiple Symmetrical Lipomatosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8ADIPOQ, IL6, LEP, MLXIPL, RETN, UCP1
2MP:00053678.8ADIPOQ, GSK3B, IL6, LEP, SELP
3MP:00053708.0ADIPOQ, GSK3B, IL6, LEP, MLXIPL, RETN
4MP:00053857.8ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
5MP:00053907.7ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
6MP:00053877.5ADIPOQ, GSK3B, IL6, LEP, RETN, SELP
7MP:00053787.4ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
8MP:00053766.7ADIPOQ, GSK3B, IL6, LEP, MFN2, MLXIPL

Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Insight Into Subcutaneous Adipose Tissue DisordersRecruitingNCT02838277

Search NIH Clinical Center for Multiple Symmetrical Lipomatosis

Genetic Tests for Multiple Symmetrical Lipomatosis

About this section

Anatomical Context for Multiple Symmetrical Lipomatosis

About this section

MalaCards organs/tissues related to Multiple Symmetrical Lipomatosis:

36
Skin, Adipocyte, Thyroid

Publications for Multiple Symmetrical Lipomatosis

About this section

Articles related to Multiple Symmetrical Lipomatosis:

(show top 50)    (show all 106)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Multiple Symmetrical Lipomatosis

About this section
Search GEO for disease gene expression data for Multiple Symmetrical Lipomatosis.

Pathways for genes affiliated with Multiple Symmetrical Lipomatosis

About this section

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.5ADIPOQ, LEP
2
Show member pathways
9.3GSK3B, IL6, MLXIPL
39.1IL6, VCAM1
49.1ADIPOQ, GSK3B, MFN2, UCP1
59.0ADIPOQ, IL6, LEP
68.8IL6, LEP, SELP
88.5IL6, SELP, VCAM1
98.2ADIPOQ, IL6, LEP, RETN, UCP1
10
Show member pathways
8.2ADIPOQ, GSK3B, IL6, LEP, RETN
11
Show member pathways
8.0ADIPOQ, GSK3B, IL6, LEP, MLXIPL, UCP1
127.9ADIPOQ, IL6, LEP, UCP1, VCAM1

GO Terms for genes affiliated with Multiple Symmetrical Lipomatosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.1ADIPOQ, IL6, LEP, RETN, SELP, VCAM1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of smooth muscle cell proliferationGO:004866210.5ADIPOQ, MFN2
2brown fat cell differentiationGO:005087310.5ADIPOQ, UCP1
3response to coldGO:000940910.3IL6, UCP1
4cellular response to hepatocyte growth factor stimulusGO:003572910.3GSK3B, IL6
5negative regulation of gluconeogenesisGO:004572110.2ADIPOQ, IL6
6negative regulation of hormone secretionGO:004688810.2ADIPOQ, IL6
7negative regulation of lipid storageGO:001088810.1IL6, LEP
8positive regulation of JAK-STAT cascadeGO:004642710.1IL6, LEP
9positive regulation of STAT protein import into nucleusGO:200036610.1IL6, LEP
10positive regulation of tyrosine phosphorylation of Stat3 proteinGO:004251710.1IL6, LEP
11regulation of angiogenesisGO:004576510.1IL6, LEP
12circadian rhythmGO:00076239.9ADIPOQ, GSK3B, LEP
13acute inflammatory responseGO:00025269.9IL6, VCAM1
14calcium-mediated signaling using intracellular calcium sourceGO:00355849.7SELP, VCAM1
15leukocyte cell-cell adhesionGO:00071599.7SELP, VCAM1
16response to insulinGO:00328689.6IL6, LEP, RETN
17glucose homeostasisGO:00425939.4ADIPOQ, IL6, LEP, MLXIPL
18agingGO:00075689.4IL6, RETN, VCAM1
19response to ethanolGO:00454719.4ADIPOQ, LEP, VCAM1
20response to hypoxiaGO:00016669.4ADIPOQ, LEP, VCAM1
21positive regulation of T cell proliferationGO:00421029.3IL6, LEP, VCAM1
22leukocyte tethering or rollingGO:00509019.2LEP, SELP, VCAM1
23response to nutrientGO:00075849.2ADIPOQ, LEP, VCAM1
24response to lipopolysaccharideGO:00324969.1IL6, SELP, VCAM1
25response to nutrient levelsGO:00316678.7ADIPOQ, IL6, LEP, UCP1

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

idNameGO IDScoreTop Affiliating Genes
1sialic acid bindingGO:00336919.4ADIPOQ, SELP
2hormone activityGO:00051799.3ADIPOQ, LEP, RETN

Sources for Multiple Symmetrical Lipomatosis

About this section
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