Lipodystrophy, Familial Partial, Type 6 (FPLD6)

Alias:
Lipe-Related Familial Partial Lipodystrophy
Fpld6
Familial Partial Lipodystrophy Type 6
Lipe-Related Fpld
Lipodystrophy, Familial Partial, Associated with Lipe Mutations
Familial Partial Lipodystrophy Associated with Lipe Mutations
Lipodystrophy, Familial Partial, 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipodystrophy, Familial Partial, Type 6, also known as lipe-related familial partial lipodystrophy, is related to adiposis dolorosa and lipodystrophy, familial partial, type 5. An important gene associated with Lipodystrophy, Familial Partial, Type 6 is LIPE (Lipase E, Hormone Sensitive Type), and among its related pathways/superpathways are Primary ovarian insufficiency and Glucose / Energy Metabolism. Affiliated tissues include skin and skeletal muscle, and related phenotypes are lipodystrophy and insulin resistance
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
11
76
4

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
Function
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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