Lipodystrophy, Familial Partial, Type 7 (FPLD7)

Alias:
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome
Fpld7
Lccns
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration
Lipodystrophy, Familial Partial, 7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipodystrophy, Familial Partial, Type 7, is also known as partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, and has symptoms including clonus An important gene associated with Lipodystrophy, Familial Partial, Type 7 is CAV1 (Caveolin 1). Affiliated tissues include spinal cord and skin, and related phenotypes are hypertriglyceridemia and triangular face
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
17
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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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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