Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy (MSL)

Alias:
Lipomatosis, Multiple Symmetric, with or Without Peripheral Neuropathy
Lipomatosis, Familial Benign Cervical
Lipomatosis Familial Benign Cervical
Lipodystrophy Cephalothoracic Type
Lipodystrophy, Cephalothoracic
Multiple Symmetric Lipomatosis
Msl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy, also known as lipomatosis, multiple symmetric, with or without peripheral neuropathy, is related to lipodystrophy, partial, acquired and myoclonic epilepsy associated with ragged-red fibers. An important gene associated with Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy is MFN2 (Mitofusin 2). Affiliated tissues include skin and adipocyte, and related phenotypes are peripheral neuropathy and lipoma

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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2
23
23

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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