Details of Disease | DrugMAP

General Information of Disease (ID: DIS22LMD)

Disease Name	Multiple symmetric lipomatosis
Synonyms	benign symmetrical lipomatosis; Launois-Bensaude syndrome; MSL; Madelung's disease; familial symmetric lipomatosis; lipomatosis, multiple symmetric; Madelung disease; Madelung's neck; cervical symmetrical lipomatosis; multiple symmetric lipomatosis; Launois-Bensaude's lipomatosis; familial benign cervical lipomatosis; cephalothoracic lipodystrophy; lipomatosis, familial benign cervical; multiple symmetrical lipomatosis; Madelung's Disease; Launois-Bensaude lipomatosis; lipodystrophy, cephalothoracic
Definition	Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
Disease Hierarchy	DIS5HJ01: Subcutaneous tissue disorder DISYK19E: Lipomatosis DIS9ASYJ: Integumentary system benign neoplasm DIS22LMD: Multiple symmetric lipomatosis
Disease Identifiers	MONDO ID MONDO_0007908 MESH ID D008069 UMLS CUI C0023804 OMIM ID 151800 MedGen ID 7349 Orphanet ID 2398 SNOMED CT ID 238902007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEL	TTTRNQW	Strong	Genetic Variation	[1]
PNPLA6	TTWAQU2	Strong	Genetic Variation	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFN2	OTPYN8A3	Supportive	Autosomal dominant	[3]
CAPSL	OT5RRQ8E	Strong	Biomarker	[4]
RPS27A	OTIIGGZ2	Strong	Altered Expression	[5]
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References

1	The role of pancreatic imaging in monogenic diabetes mellitus.Nat Rev Endocrinol. 2011 Nov 29;8(3):148-59. doi: 10.1038/nrendo.2011.197.
2	The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21.
3	Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. Hum Mol Genet. 2015 Sep 15;24(18):5109-14. doi: 10.1093/hmg/ddv229. Epub 2015 Jun 17.
4	Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.Sci Rep. 2019 Jun 11;9(1):8444. doi: 10.1038/s41598-019-44382-1.
5	Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis.Mol Med Rep. 2017 Nov;16(5):6570-6579. doi: 10.3892/mmr.2017.7437. Epub 2017 Sep 7.