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 67
 
Lipomatosis, Multiple Symmetrical 67

Classifications:



External Ids:

Disease Ontology11 DOID:3137
MeSH38 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 for Multiple Symmetrical Lipomatosis

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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:

35
Skin, Adipocyte, Thyroid

Animal Models for Multiple Symmetrical Lipomatosis or affiliated genes

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MGI Mouse Phenotypes related to Multiple Symmetrical Lipomatosis:

40
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

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
Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy. (26256662)
2015
4
Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia. (25548590)
2014
5
Multiple symmetric lipomatosis: an unusual case. (23621501)
2014
6
Sleep apnea-hypopnea syndrome and multiple symmetrical lipomatosis. (22974765)
2013
7
Impaired gonadal function in a woman with multiple symmetric lipomatosis. (23732376)
2013
8
Multiple symmetric lipomatosis: a diagnostic dilemma. (23983713)
2013
9
Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. (23657050)
2013
10
Multiple symmetric lipomatosis: a review of 3 cases. (22953128)
2012
11
Multiple symmetrical lipomatosis: case report and literature review. (22583757)
2012
12
Growing fatty mass in the back: diagnosis of a multiple symmetric lipomatosis (Madelung's disease) in association with chronic alcoholism. (22075714)
2012
13
Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis. (22441442)
2012
14
Multiple symmetric lipomatosis: substantial subcutaneous adipose tissue accumulation did not induce glucose and lipid metabolism dysfunction. (20714139)
2010
15
From ancient enigmas to novel paradigms: a depiction of multiple symmetric lipomatosis. (18756923)
2008
16
Multiple symmetric lipomatosis: a paradigm of metabolically innocent obesity? Response to Haap et al. (15220292)
2004
17
Differential clinical expression of multiple symmetric lipomatosis in men and women. (14574355)
2003
18
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature. (19078716)
2003
19
Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. (11850759)
2002
20
Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. (12375271)
2002
21
Multiple symmetrical lipomatosis (Madelung's disease). (11150043)
2001
22
Are 'buffalo hump' syndrome, Madelung's disease and multiple symmetrical lipomatosis variants of the same dysmetabolism? (11216947)
2001
23
Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. (19078570)
2000
24
Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. (10440290)
1999
25
A case of multiple symmetrical lipomatosis (Madelung's disease). (10419045)
1999
26
Multiple Symmetric Lipomatosis--MR appearances. (10580773)
1999
27
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. (9674814)
1998
28
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis. (9879833)
1998
29
Mitochondrial DNA mutations in multiple symmetric lipomatosis. (9309699)
1997
30
Laryngeal involvement in multiple symmetric lipomatosis: the role of computed tomography in diagnosis. (9074739)
1997
31
Multiple symmetrical lipomatosis (Madelung's disease): a case report. (8915118)
1996
32
Multiple symmetric lipomatosis presenting with polyneuropathy. (7591705)
1995
33
RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. (7531972)
1995
34
Multiple symmetric lipomatosis (Madelung's disease). (7709262)
1995
35
Multiple symmetrical lipomatosis: computed tomographic appearance. (7777892)
1995
36
Mitochondrial respiratory function in multiple symmetrical lipomatosis: report of two cases. (7858441)
1994
37
An uncommon presentation of multiple symmetric lipomatosis. (8407077)
1993
38
Extremely high HDL levels in a patient with multiple symmetric lipomatosis. (8143360)
1993
39
Multiple symmetrical lipomatosis. (1521476)
1992
40
Multiple symmetric lipomatosis: combined surgical treatment and liposuction. Case report. (1626219)
1992
41
Mitochondrial dysfunction in multiple symmetrical lipomatosis. (1650162)
1991
42
A case of multiple symmetric lipomatosis (Madelung's disease). (2690720)
1989
43
Multiple symmetric lipomatosis. (3267365)
1988
44
Multiple symmetric lipomatosis: treatment with liposuction. (3346417)
1988
45
Neuropathy in multiple symmetric lipomatosis. Madelung's disease. (3179687)
1988
46
Multiple symmetrical lipomatosis in a patient with HA1rthle cell carcinoma of the thyroid: a case report. (3941586)
1986
47
Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis. (4058304)
1985
48
Metabolic abnormalities in multiple symmetric lipomatosis: elevated lipoprotein lipase activity in adipose tissue with hyperalphalipoproteinemia. (6875381)
1983
49
Adrenergic regulation of fat-cell lipolysis in multiple symmetric lipomatosis. (6129978)
1982
50
Computed tomography of deep fat masses in multiple symmetrical lipomatosis. (7089242)
1982

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:00098978.5IL6, 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
1brown fat cell differentiationGO:005087310.3ADIPOQ, UCP1
2negative regulation of smooth muscle cell proliferationGO:004866210.2ADIPOQ, MFN2
3negative regulation of hormone secretionGO:004688810.2ADIPOQ, IL6
4negative regulation of MAP kinase activityGO:004340710.1ADIPOQ, GSK3B
5positive regulation of STAT protein import into nucleusGO:200036610.1IL6, LEP
6cellular response to hepatocyte growth factor stimulusGO:003572910.1GSK3B, IL6
7negative regulation of gluconeogenesisGO:004572110.1ADIPOQ, IL6
8negative regulation of lipid storageGO:00108889.9IL6, LEP
9positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.9IL6, LEP
10fatty acid beta-oxidationGO:00066359.9ADIPOQ, LEP
11regulation of angiogenesisGO:00457659.9IL6, LEP
12negative regulation of fat cell differentiationGO:00455999.8ADIPOQ, IL6
13positive regulation of JAK-STAT cascadeGO:00464279.7IL6, LEP
14positive regulation of smooth muscle cell proliferationGO:00486619.6GSK3B, IL6, RETN
15leukocyte cell-cell adhesionGO:00071599.6SELP, VCAM1
16acute inflammatory responseGO:00025269.5IL6, VCAM1
17circadian rhythmGO:00076239.5ADIPOQ, GSK3B, LEP
18defense response to Gram-negative bacteriumGO:00508299.3IL6, SELP
19response to activityGO:00148239.3ADIPOQ, GSK3B, LEP
20calcium-mediated signaling using intracellular calcium sourceGO:00355849.3SELP, VCAM1
21response to nutrient levelsGO:00316679.2ADIPOQ, IL6, LEP
22response to nutrientGO:00075849.2ADIPOQ, LEP, VCAM1
23leukocyte tethering or rollingGO:00509019.1LEP, SELP, VCAM1
24response to insulinGO:00328689.1GSK3B, IL6, LEP, RETN
25glucose homeostasisGO:00425939.1ADIPOQ, IL6, LEP, MLXIPL
26positive regulation of T cell proliferationGO:00421028.9IL6, LEP, VCAM1
27response to lipopolysaccharideGO:00324968.8IL6, SELP, VCAM1
28response to ethanolGO:00454718.7ADIPOQ, LEP, VCAM1
29agingGO:00075688.5GSK3B, IL6, RETN, VCAM1
30response to hypoxiaGO:00016668.4ADIPOQ, LEP, VCAM1

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

idNameGO IDScoreTop Affiliating Genes
1sialic acid bindingGO:00336919.8ADIPOQ, SELP
2hormone activityGO:00051799.1ADIPOQ, LEP, RETN

Sources for Multiple Symmetrical Lipomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet