Lipodystrophy, Familial Partial, Type 1 (FPLD1)

Alias:
Familial Partial Lipodystrophy Type 1
Fpld1
Familial Partial Lipodystrophy, Kobberling Type
Lipodystrophy, Familial Partial, Kobberling Type
Familial Partial Lipodystrophy, Köbberling Type
Familial Partial Lipodystrophy Kobberling Type
Familial Partial Lipodystrophy, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipodystrophy, Familial Partial, Type 1, also known as familial partial lipodystrophy type 1, is related to familial partial lipodystrophy and lipodystrophy, partial, acquired. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C), and among its related pathways/superpathways are Overlap between signal transduction pathways contributing to LMNA laminopathies and Adipogenesis. Affiliated tissues include skin and bone, and related phenotypes are diabetes mellitus and hypertension
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
9
83
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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