MCID: MLT002
MIFTS: 36

Multiple Symmetrical Lipomatosis malady

Categories: Genetic diseases (common), Skin diseases

Aliases & Classifications for Multiple Symmetrical Lipomatosis

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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

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MalaCards based summary: Multiple Symmetrical Lipomatosis, also known as lipomatosis, familial benign cervical, is related to obesity and lipomatosis, multiple symmetric. An important gene associated with Multiple Symmetrical Lipomatosis is MLXIPL (MLX Interacting Protein Like), and among its related pathways are African trypanosomiasis and Immune response_MIF-mediated glucocorticoid regulation. Affiliated tissues include skin, adipocyte and thyroid, and related mouse phenotypes are adipose tissue and renal/urinary system.

Related Diseases for Multiple Symmetrical Lipomatosis

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1obesity28.4ADIPOQ, IL6, LEP, MFN2, RETN, UCP1
2lipomatosis, multiple symmetric12.0
3lipomatosis10.8
4malignant spindle cell melanoma10.4MFN2, UCP1
5noninfectious dermatoses of eyelid10.4MFN2, MT-TK
6familial drusen10.3ADIPOQ, RETN
7stiff-person syndrome10.3MFN2, MT-TK, UCP1
8lymphoepithelioma-like carcinoma10.2MFN2, MT-TK
9nondystrophic myotonia10.2ADIPOQ, LEP
10potato nose10.2ADIPOQ, LEP
11scleredema adultorum10.2ADIPOQ, LEP
12muscle hypertrophy10.1GSK3B, LEP
13neuropathy10.1
14patellofemoral pain syndrome10.1ADIPOQ, LEP
15urinary bladder posterior wall cancer10.1IL6, LEP
16histoplasmosis10.0IL6, SELP
17colon carcinoma in situ10.0IL6, SELP
18myopathy10.0
19keratoacanthoma9.9ADIPOQ, LEP
20laryngitis9.9
21pure mitochondrial myopathy9.9ADIPOQ, LEP, RETN
22benign peritoneal mesothelioma9.9IL6, RETN
23west nile fever9.9IL6, VCAM1
24neonatal diabetes mellitus9.9ADIPOQ, LEP, RETN
25acatalasemia9.8ADIPOQ, LEP, RETN
26orbital lymphangioma9.8IL6, VCAM1
27antidepressant type abuse9.8ADIPOQ, IL6, LEP
28ischemic heart disease9.8IL6, SELP
29diabetic encephalopathy9.8ADIPOQ, IL6, LEP
30periampullary adenoma9.8ADIPOQ, IL6, LEP
31hypertrichosis9.8ADIPOQ, IL6, LEP
32dementia - subcortical9.8IL6, VCAM1
33intracranial primitive neuroectodermal tumor9.8SELP, VCAM1
34hyperalphalipoproteinemia9.8
35lipoma9.8
36sleep apnea9.8
37autonomic neuropathy9.8
38gynecomastia9.8
39polyneuropathy9.8
40epilepsy9.8
41plexopathy9.8
42thyroiditis9.8
43lipodystrophy9.8
44mitochondrial disorders9.8
45encephalomyopathy9.8
46myoclonus epilepsy9.8
47multiple endocrine neoplasia9.8
48encephalopathy9.8
49myoclonus9.8
50oppositional defiant disorder9.7SELP, 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

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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:00053708.1ADIPOQ, GSK3B, IL6, LEP, MLXIPL, RETN
4MP:00053857.7ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
5MP:00053907.7ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
6MP:00053787.4ADIPOQ, GSK3B, IL6, LEP, MFN2, SELP
7MP:00053766.6ADIPOQ, GSK3B, IL6, LEP, MFN2, MLXIPL

Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

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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

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Anatomical Context for Multiple Symmetrical Lipomatosis

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MalaCards organs/tissues related to Multiple Symmetrical Lipomatosis:

36
Skin, Adipocyte, Thyroid

Publications for Multiple Symmetrical Lipomatosis

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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
Central nervous system involvement in multiple symmetric lipomatosis. (27772774)
2016
3
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. (27018673)
2016
4
Multiple symmetric lipomatosis with spindle cell proliferation. (26922721)
2016
5
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. (26256662)
2015
6
Extracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis. (26180731)
2015
7
Multiple symmetric lipomatosis: A rare disease and its possible links to brown adipose tissue. (25770761)
2015
8
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. (26085578)
2015
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 (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia. (25548590)
2014
11
Multiple symmetric lipomatosis: an unusual case. (23621501)
2014
12
Power-assisted liposuction (PAL) of multiple symmetric lipomatosis (MSL)-a longitudinal study. (25393046)
2014
13
Multiple symmetrical lipomatosis (Madelung's disease). (24626899)
2014
14
Madelung disease: multiple symmetric lipomatosis. (24652555)
2014
15
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
16
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
17
Multiple symmetric lipomatosis: a diagnostic dilemma. (23983713)
2013
18
Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. (23657050)
2013
19
Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat. (23524250)
2013
20
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
21
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
22
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. (22075714)
2012
23
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. (22441442)
2012
24
Surgical approach in a patient with multiple symmetrical lipomatosis: case report. (22392254)
2012
25
Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation. (23142763)
2012
26
Multiple symmetric lipomatosis. (21781630)
2011
27
Surgical treatment of multiple symmetric lipomatosis (Madelung's disease): a single-center experience. (21764493)
2011
28
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
29
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. (20190488)
2010
30
Unusual cases of multiple symmetrical lipomatosis with neurological disorders. (20048140)
2009
31
Central form of multiple symmetric lipomatosis: a case report. (19918431)
2009
32
Multiple symmetric lipomatosis in two chinese patients, one typical and one unusual. (24257048)
2009
33
Progressive myopathy with multiple symmetric lipomatosis. (20008669)
2009
34
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
35
Multiple symmetric lipomatosis type 2 in females--report of two cases. (18358107)
2008
36
Multiple symmetric lipomatosis - a reflection of new concepts about obesity. (18367347)
2008
37
Multiple symmetric lipomatosis: case report and review of the literature. (17577504)
2007
38
Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. (17329589)
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: a paradigm of metabolically innocent obesity? (14988304)
2004
42
Multiple symmetric lipomatosis (Madelung's disease): report of two cases. (15124898)
2004
43
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
44
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
45
Multiple symmetric lipomatosis: Korean experience. (12614415)
2003
46
Alcoholism as a trigger of multiple symmetric lipomatosis? (12702098)
2003
47
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
48
Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. (12375271)
2002
49
Wernicke's encephalopathy in a patient with multiple symmetrical lipomatosis and the A8344G mutation of mitochondrial DNA. (11844905)
2002
50
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001

Variations for Multiple Symmetrical Lipomatosis

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Expression for genes affiliated with Multiple Symmetrical Lipomatosis

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

Pathways for genes affiliated with Multiple Symmetrical Lipomatosis

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GO Terms for genes affiliated with Multiple Symmetrical Lipomatosis

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.2IL6, SELP, VCAM1
2extracellular spaceGO:00056157.1ADIPOQ, IL6, LEP, RETN, SELP, VCAM1

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of smooth muscle cell proliferationGO:004866210.5ADIPOQ, MFN2
2brown fat cell differentiationGO:005087310.4ADIPOQ, UCP1
3negative regulation of MAP kinase activityGO:004340710.4ADIPOQ, GSK3B
4cellular response to hepatocyte growth factor stimulusGO:003572910.3GSK3B, IL6
5fatty acid beta-oxidationGO:000663510.3ADIPOQ, LEP
6negative regulation of fat cell differentiationGO:004559910.2ADIPOQ, IL6
7negative regulation of gluconeogenesisGO:004572110.2ADIPOQ, IL6
8negative regulation of hormone secretionGO:004688810.2ADIPOQ, IL6
9negative regulation of lipid storageGO:001088810.1IL6, LEP
10positive regulation of JAK-STAT cascadeGO:004642710.1IL6, LEP
11positive regulation of STAT protein import into nucleusGO:200036610.1IL6, LEP
12positive regulation of tyrosine phosphorylation of Stat3 proteinGO:004251710.1IL6, LEP
13regulation of angiogenesisGO:004576510.1IL6, LEP
14defense response to Gram-negative bacteriumGO:005082910.0IL6, SELP
15circadian rhythmGO:00076239.9ADIPOQ, GSK3B, LEP
16acute inflammatory responseGO:00025269.9IL6, VCAM1
17response to activityGO:00148239.8ADIPOQ, GSK3B, LEP
18positive regulation of smooth muscle cell proliferationGO:00486619.8GSK3B, IL6, RETN
19calcium-mediated signaling using intracellular calcium sourceGO:00355849.8SELP, VCAM1
20leukocyte cell-cell adhesionGO:00071599.7SELP, VCAM1
21glucose homeostasisGO:00425939.4ADIPOQ, IL6, LEP, MLXIPL
22response to ethanolGO:00454719.4ADIPOQ, LEP, VCAM1
23response to hypoxiaGO:00016669.4ADIPOQ, LEP, VCAM1
24positive regulation of T cell proliferationGO:00421029.3IL6, LEP, VCAM1
25response to insulinGO:00328689.2GSK3B, IL6, LEP, RETN
26leukocyte tethering or rollingGO:00509019.2LEP, SELP, VCAM1
27response to nutrientGO:00075849.2ADIPOQ, LEP, VCAM1
28response to lipopolysaccharideGO:00324969.1IL6, SELP, VCAM1
29agingGO:00075689.0GSK3B, IL6, RETN, VCAM1
30response to nutrient levelsGO:00316679.0ADIPOQ, IL6, LEP

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

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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