Persistent Hyperplastic Primary Vitreous (PFVS)

Alias:
Non-Syndromic Congenital Retinal Non-Attachment
Persistent Fetal Vasculature Syndrome
Congenital Retinal Detachment
Ncrna Disease
Pfvs
Phpv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Persistent Hyperplastic Primary Vitreous, also known as non-syndromic congenital retinal non-attachment, is related to persistent hyperplastic primary vitreous, autosomal recessive and amblyopia. An important gene associated with Persistent Hyperplastic Primary Vitreous is MIP (Major Intrinsic Protein Of Lens Fiber), and among its related pathways/superpathways are Pleural mesothelioma and Breast cancer pathway. Affiliated tissues include eye and retina, and related phenotypes are remnants of the hyaloid vascular system and cataract
Related ID:
MESH:D054514

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
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36
596
1

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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