MCID: MLT012
MIFTS: 41

Multiple Symmetric Lipomatosis malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Multiple Symmetric Lipomatosis

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 47Novoseek, 24GTR, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Multiple Symmetric Lipomatosis:

Name: Multiple Symmetric Lipomatosis 10 12 51
Lipomatosis, Familial Benign Cervical 10 65
Familial Benign Cervical Lipomatosis 51 24
Lipomatosis, Multiple Symmetrical 36 65
Cervical Symmetrical Lipomatosis 10
Lipomatosis, Multiple Symmetric 47
Launois-Bensaude's Lipomatosis 10
 
Lipodystrophy, Cephalothoracic 10
Benign Symmetrical Lipomatosis 65
Cephalothoracic Lipodystrophy 51
Launois-Bensaude Lipomatosis 51
Madelung Disease 51
Madelung's Neck 10

Characteristics:

Orphanet epidemiological data:

51
multiple symmetric lipomatosis:
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: 1-9/100000 (Italy); Age of onset: Adult; Age of death: elderly


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:14116
MeSH36 D008069
NCIt42 C4392
SNOMED-CT59 63365006
Orphanet51 2398
ICD10 via Orphanet28 E88.8
UMLS via Orphanet66 C2931642
UMLS65 C0024445, C2931642

Summaries for Multiple Symmetric Lipomatosis

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MalaCards based summary: Multiple Symmetric Lipomatosis, also known as lipomatosis, familial benign cervical, is related to obesity and multiple symmetrical lipomatosis, and has symptoms including arthralgia, limitation of joint mobility and multiple lipomas. An important gene associated with Multiple Symmetric Lipomatosis is MFN2 (Mitofusin 2), and among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Adipogenesis. Affiliated tissues include skin, liver and testes, and related mouse phenotype cardiovascular system.

Related Diseases for Multiple Symmetric Lipomatosis

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



Diseases related to multiple symmetric lipomatosis

Symptoms for Multiple Symmetric Lipomatosis

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Symptoms:

 51 (show all 10)
  • xanthomas/lipomas
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • abnormal fat distribution/lipodystrophy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • insulin resistance
  • peripheral neuropathy
  • abnormal gait
  • areflexia/hyporeflexia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness

HPO human phenotypes related to Multiple Symmetric Lipomatosis:

(show all 11)
id Description Frequency HPO Source Accession
1 arthralgia hallmark (90%) HP:0002829
2 limitation of joint mobility hallmark (90%) HP:0001376
3 multiple lipomas hallmark (90%) HP:0001012
4 paresthesia typical (50%) HP:0003401
5 hepatomegaly typical (50%) HP:0002240
6 reduced tendon reflexes typical (50%) HP:0001315
7 gait disturbance typical (50%) HP:0001288
8 insulin resistance typical (50%) HP:0000855
9 lipoma HP:0012032
10 peripheral neuropathy HP:0009830
11 abnormality of the skin HP:0000951

Drugs & Therapeutics for Multiple Symmetric Lipomatosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Symmetric Lipomatosis


Cochrane evidence based reviews: lipomatosis, multiple symmetrical

Genetic Tests for Multiple Symmetric Lipomatosis

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Anatomical Context for Multiple Symmetric Lipomatosis

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MalaCards organs/tissues related to Multiple Symmetric Lipomatosis:

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

Animal Models for Multiple Symmetric Lipomatosis or affiliated genes

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MGI Mouse Phenotypes related to Multiple Symmetric Lipomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1MFN2, PPARGC1A, SDHB, UCP1

Publications for Multiple Symmetric Lipomatosis

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Articles related to Multiple Symmetric 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 Symmetric Lipomatosis

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Expression for genes affiliated with Multiple Symmetric Lipomatosis

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

Pathways for genes affiliated with Multiple Symmetric Lipomatosis

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GO Terms for genes affiliated with Multiple Symmetric Lipomatosis

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

idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:00508739.7PPARGC1A, UCP1
2organelle organizationGO:00069969.3MRRF, PPARGC1A

Sources for Multiple Symmetric Lipomatosis

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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