MCID: MLT002
MIFTS: 38

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 10 12
Lipomatosis, Familial Benign Cervical 65
 
Lipomatosis, Multiple Symmetrical 65

Classifications:



External Ids:

Disease Ontology10 DOID:3137
MeSH36 D008069
UMLS65 C0023804

Summaries for Multiple Symmetrical Lipomatosis

About this section
MalaCards based summary: Multiple Symmetrical Lipomatosis, also known as lipomatosis, familial benign cervical, is related to obesity and myocardial infarction. An important gene associated with Multiple Symmetrical Lipomatosis is MFN2 (Mitofusin 2), and among its related pathways are Adipocytokine signaling pathway and amb2 Integrin signaling. Affiliated tissues include skin, testes and bone, and related mouse phenotypes are adipose tissue and liver/biliary system.

Related Diseases for Multiple Symmetrical Lipomatosis

About this section

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



Diseases related to multiple symmetrical lipomatosis

Symptoms for Multiple Symmetrical Lipomatosis

About this section

Drugs & Therapeutics for Multiple Symmetrical Lipomatosis

About this section

Interventional clinical trials:

Search ClinicalTrials, 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:

33
Skin, Testes, Bone, Brain, Endothelial, Prostate, Liver

Animal Models for Multiple Symmetrical Lipomatosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Multiple Symmetrical Lipomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.4ADIPOQ, IL6, LEP, RETN, UCP1
2MP:00053708.3ADIPOQ, IL6, LEP, RETN, SELP
3MP:00053908.1ADIPOQ, IL6, LEP, MFN2, SELP
4MP:00053867.9ADIPOQ, IL6, LEP, MFN2, SELP, UCP1
5MP:00053847.0ADIPOQ, IL6, LEP, MFN2, SELP, UCP1
6MP:00053786.8ADIPOQ, IL6, LEP, MFN2, SELP, UCP1
7MP:00053856.6ADIPOQ, IL6, LEP, MFN2, SELP, UCP1
8MP:00053766.5ADIPOQ, IL6, LEP, MFN2, RETN, SELP

Publications for Multiple Symmetrical Lipomatosis

About this section

Articles related to Multiple Symmetrical Lipomatosis:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Phenoxy herbicides, soft-tissue sarcoma and non-Hodgkin lymphoma: a systematic review of evidence from cohort and case-control studies. (25790819)
2015
2
Acute bilateral useless hand syndrome: a rare presenting manifestation of vitamin B12 deficiency. (26475874)
2015
3
Two rare cases of blastic plasmacytoid dendritic cell neoplasm and a literature review. (24432892)
2014
4
Predictive value of testing nasopharyngeal samples for respiratory viruses in the setting of lower respiratory tract disease. (25122864)
2014
5
Hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications. (25379352)
2014
6
Unilesional Mycosis Fungoides: 3 different clinical presentations. (23830487)
2013
7
Y14 positively regulates TNF-I+-induced NF-I_B transcriptional activity via interacting RIP1 and TRADD beyond an exon junction complex protein. (23817415)
2013
8
Prognostic implications of relative hypochromia in ambulatory patients with chronic systolic heart failure. (23279093)
2013
9
Endoplasmic reticulum stress induces a caspase-dependent N-terminal cleavage of RBX1 protein in B cells. (22822056)
2012
10
Swyer-James syndrome with peculiar course and ipsilateral pulmonary vein defect. (21881283)
2011
11
Equol induced apoptosis of human breast cancer MDA-MB-231 cell by inhibiting the expression of nuclear factor-kappaB]. (21434324)
2011
12
Outcome and prognostic factors of radiation therapy for medulloblastoma. (21345611)
2011
13
Case report. Acinar cell carcinoma with fatty change arising from the pancreas. (22101587)
2011
14
IFN-I^-inducible protein of 10 kDa upregulates the effector functions of eosinophils through I^2 integrin and CXCR3. (22004287)
2011
15
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. (20186791)
2010
16
Alpha-synuclein disrupted dopamine homeostasis leads to dopaminergic neuron degeneration in Caenorhabditis elegans. (20174477)
2010
17
The fibroblast-derived paracrine factor neuregulin-1 has a novel role in regulating the constitutive color and melanocyte function in human skin. (20736300)
2010
18
Mobile spinal ependymoma. (20043741)
2010
19
BMI1 collaborates with BCR-ABL in leukemic transformation of human CD34+ cells. (20724541)
2010
20
Treatment of proteinuria with lercanidipine associated with renin-angiotensin axis-blocking drugs. (20199181)
2010
21
Mutation survey of known LCA genes and loci in the Saudi Arabian population. (18936139)
2009
22
Congenital cholesteatoma of occipital bone or intradiploic epidermoid cyst? One and the same disease. (18577276)
2009
23
Serotonin receptor 2C and mental disorders: genetic, expression and RNA editing studies. (19411841)
2009
24
Fractalkine and TGF-beta1 levels reflect the severity of chronic pancreatitis in humans. (19030200)
2008
25
Increased activity of PRPP synthetase]. (18409517)
2008
26
Differential regulation of pregnancy associated plasma protein-A in human coronary artery endothelial cells and smooth muscle cells. (17936662)
2008
27
Wilson disease and hepatocellular carcinoma. (21904522)
2008
28
Rab11-FIP2 regulates differentiable steps in transcytosis. (17626244)
2007
29
Evaluation of gall bladder carcinoma with dynamic magnetic resonance imaging and magnetic resonance cholangiopancreatography. (16732816)
2006
30
Penile duplex pharmaco-ultrasonography of cavernous arteries in men with erectile dysfunction and generalized atherosclerosis. (16893400)
2006
31
Ceftriaxone as effective as long-acting chloramphenicol in short-course treatment of meningococcal meningitis during epidemics: a randomised non-inferiority study. (16039333)
2005
32
Granulomatous cheilitis evolving into Melkersson-Rosenthal syndrome with bilateral facial palsy. (17642648)
2004
33
Efficacy of low-dose spironolactone in subjects with resistant hypertension. (14573330)
2003
34
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. (11502971)
2001
35
Peroneal nerve palsy secondary to proximal fibular osteochondroma--a case report. (11814260)
2001
36
Cytokine therapy for myelodysplastic syndrome. (10786652)
2000
37
Serum IGF-I and IGFBP-3 concentrations do not accurately predict growth hormone deficiency in children with brain tumours. (10469014)
1999
38
Cytosolic phospholipase A2 activation is essential for beta 1 and beta 2 integrin-dependent adhesion of human eosinophils. (10477614)
1999
39
Adenosine modulates cell proliferation in human colonic carcinoma. II. Differential behavior of HT29, DLD-1, Caco-2 and SW403 cell lines. (9543252)
1998
40
A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. (8956030)
1996
41
Huntington's disease: recent advances in diagnosis and management. (7750074)
1995
42
Effects of an oral prostaglandin E1 agonist on blood pressure and its determinants in essential hypertension. (7932515)
1994
43
Cardiovascular manifestations of cocaine abuse. A case of recurrent dilated cardiomyopathy. (7774343)
1994
44
Emerging aspects of amino acid metabolism. Where do we go from here? (8064413)
1994
45
Preclinical methods for the development of pharmacotherapies for cocaine abuse. (1435972)
1992
46
Lipopolysaccharide modulates chemotactic peptide-induced actin polymerization in neutrophils. (2294151)
1990
47
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. (1965208)
1990
48
The genetics of alcoholism and color blindness. (5343138)
1967
49
Diagnosis and treatment of cutaneous anthrax. (18148091)
1949
50
CONGENITAL HEART BLOCK WITH DEXTROCARDIA. (18609923)
1943

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

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
1external side of plasma membraneGO:00098979.1IL6, VCAM1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:000663510.2ADIPOQ, LEP
2brown fat cell differentiationGO:005087310.2ADIPOQ, UCP1
3negative regulation of gluconeogenesisGO:004572110.1ADIPOQ, IL6
4positive regulation of STAT protein import into nucleusGO:200036610.1IL6, LEP
5negative regulation of hormone secretionGO:004688810.0ADIPOQ, IL6
6negative regulation of fat cell differentiationGO:00455999.9ADIPOQ, IL6
7positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.9IL6, LEP
8response to glucocorticoidGO:00513849.9ADIPOQ, IL6
9negative regulation of lipid storageGO:00108889.9IL6, LEP
10response to nutrientGO:00075849.8ADIPOQ, LEP
11regulation of angiogenesisGO:00457659.8IL6, LEP
12positive regulation of MAPK cascadeGO:00434109.8IL6, LEP
13positive regulation of smooth muscle cell proliferationGO:00486619.8IL6, RETN
14leukocyte tethering or rollingGO:00509019.7LEP, VCAM1
15positive regulation of protein kinase B signalingGO:00518979.7IL6, LEP
16positive regulation of T cell proliferationGO:00421029.6LEP, VCAM1
17calcium-mediated signaling using intracellular calcium sourceGO:00355849.5SELP, VCAM1
18response to nutrient levelsGO:00316679.5ADIPOQ, IL6, LEP
19response to ethanolGO:00454719.4ADIPOQ, LEP
20defense response to Gram-negative bacteriumGO:00508299.4IL6, SELP
21response to insulinGO:00328689.4IL6, LEP, RETN
22cellular response to tumor necrosis factorGO:00713569.1IL6, VCAM1
23single organismal cell-cell adhesionGO:00163378.7SELP, VCAM1

Sources for Multiple Symmetrical Lipomatosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet