Details of Disease

General Information of Disease (ID: DISYK19E)

Disease Name Lipomatosis
Synonyms Madelung disease; Launois-Bensaude syndrome; lipomatosis; Madelung's disease
Definition A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.
Disease Hierarchy
:
DISYK19E: Lipomatosis
Disease Identifiers
MONDO ID
MONDO_0006574
MESH ID
D008068
UMLS CUI
C0023801
MedGen ID
9781
SNOMED CT ID
37095002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PTEN TTXJ3W7 Limited Genetic Variation [1]
CEL TTTRNQW Strong Genetic Variation [2]
PNPLA6 TTWAQU2 Strong Genetic Variation [3]
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References

1 PTEN regulates phospholipase D and phospholipase C.Hum Mol Genet. 2007 May 15;16(10):1157-63. doi: 10.1093/hmg/ddm063. Epub 2007 Apr 3.
2 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.
3 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.