Multiple Symmetric Lipomatosis

Alias:
Lipomatosis, Multiple Symmetrical
Lipomatosis, Familial Benign Cervical
Familial Benign Cervical Lipomatosis
Cephalothoracic Lipodystrophy
Launois-Bensaude Lipomatosis
Madelung Disease
Cervical Symmetrical Lipomatosis
Multiple Symmetrical Lipomatosis
Lipomatosis, Multiple Symmetric
Lipodystrophy, Cephalothoracic
Launois-Bensaude's Lipomatosis
Benign Symmetrical Lipomatosis
Madelung's Disease
Madelung's Neck
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Symmetric Lipomatosis, also known as lipomatosis, multiple symmetrical, is related to lipomatosis and peripheral nervous system disease. An important gene associated with Multiple Symmetric Lipomatosis is MFN2 (Mitofusin 2), and among its related pathways/superpathways is Familial partial lipodystrophy. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin and tongue, and related phenotypes are joint stiffness and multiple lipomas
Related ID:
MESH:D008069

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
8
84
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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