Neutral Lipid Storage Disease with Myopathy (NLSDM)

Alias:
Neutral Lipid Storage Myopathy
Nlsdm
Neutral Lipid Storage Disease Without Ichthyosis
Neutral Lipid Storage Disease with Myopathy Without Ichthyosis
Lipid, Neutral, Storage Disease with Myopathy
Triglyceride Storage Disease with Ichthyosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neutral Lipid Storage Disease with Myopathy, also known as neutral lipid storage myopathy, is related to chanarin-dorfman syndrome and myopathy, and has symptoms including ataxia, muscle weakness and muscular fasciculation. An important gene associated with Neutral Lipid Storage Disease with Myopathy is PNPLA2 (Patatin Like Phospholipase Domain Containing 2). The drugs Bezafibrate and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and liver, and related phenotypes are progressive proximal muscle weakness and shoulder girdle muscle weakness

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
1
7
13

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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