Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (PHPVAR)

Alias:
Persistent Fetal Vasculature
Retinal Nonattachment, Nonsyndromic Congenital
Phpvar
Rnanc
Vitreous, Primary, Hyperplastic, Persistent, Autosomal Recessive
Congenital Non-Syndromic Retinal Non-Attachment
Retinal Non-Attachment and Falciform Detachment
Retinal Nonattachment and Falciform Detachment
Retinal Detachment Congenital
Ncrna
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive, also known as persistent fetal vasculature, is related to persistent hyperplastic primary vitreous and retinal detachment. An important gene associated with Persistent Hyperplastic Primary Vitreous, Autosomal Recessive is ATOH7 (Atonal BHLH Transcription Factor 7). Affiliated tissues include eye and retina, and related phenotypes are iris coloboma and uveitis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
20
19

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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