Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa

Alias:
Pxe-Like Syndrome with Retinitis Pigmentosa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa, is also known as pxe-like syndrome with retinitis pigmentosa. An important gene associated with Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa is GGCX (Gamma-Glutamyl Carboxylase). Affiliated tissues include skin and eye, and related phenotypes are nyctalopia and rod-cone dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
4
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Medical Symptom

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

Gene & Mutation

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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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