PFVS
MCID: PRS062
MIFTS: 36

Persistent Hyperplastic Primary Vitreous (PFVS) malady

Eye diseases, Cardiovascular diseases categories

Summaries for Persistent Hyperplastic Primary Vitreous

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental anomaly of the eye... more...

MalaCards: Persistent Hyperplastic Primary Vitreous, also known as persistent fetal vasculature syndrome, is related to coats disease and exudative vitreoretinopathy. An important gene associated with Persistent Hyperplastic Primary Vitreous is FZD4 (frizzled family receptor 4), and among its related pathways are Wnt Signaling Pathway and Glioblastoma Multiforme. The compound arginine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:46 611308,611311

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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20GeneTests, 48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

persistent hyperplastic primary vitreous 20 48 46
persistent fetal vasculature syndrome 48
phpv 48
pfvs 48


External Ids:

SNOMED-CT via Orphanet57 314270008, 44647001, 69927002
UMLS via Orphanet61 C0266568
MESH via Orphanet35 D054514
ICD10 via Orphanet26 Q14.0

Related Diseases for Persistent Hyperplastic Primary Vitreous

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Persistent Hyperplastic Primary Vitreous:



Diseases related to persistent hyperplastic primary vitreous

Clinical Features for Persistent Hyperplastic Primary Vitreous

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46OMIM
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Clinical features from OMIM:

611308,611311

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Persistent Hyperplastic Primary Vitreous

Search CenterWatch for Persistent Hyperplastic Primary Vitreous

Genetic Tests for Persistent Hyperplastic Primary Vitreous

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20GeneTests
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Genetic tests related to Persistent Hyperplastic Primary Vitreous:

id Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous20

Anatomical Context for Persistent Hyperplastic Primary Vitreous

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32MalaCards
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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

32
Eye

Animal Models for Persistent Hyperplastic Primary Vitreous or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6FZD4, CDKN2A, NDP
2MP:00053868.3FZD4, NDP, CDKN2A, ATOH7
3MP:00011868.2CDKN2A, NDP, FOXC1, FZD4
4MP:00053848.2CDKN2A, FOXC1, FZD4, ATOH7
5MP:00053858.1NDP, FOXC1, FZD4, ATOH7
6MP:00053917.7FOXC1, FZD4, ATOH7, CDKN2A, NDP
7MP:00053897.6CDKN2A, FZD4, FOXC1, NDP, ATOH7
8MP:00036317.6FZD4, ATOH7, NDP, CDKN2A, FOXC1

Publications for Persistent Hyperplastic Primary Vitreous

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Genetic Variations for Persistent Hyperplastic Primary Vitreous

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Expression for genes affiliated with Persistent Hyperplastic Primary Vitreous

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Persistent Hyperplastic Primary Vitreous

Search GEO for disease gene expression data for Persistent Hyperplastic Primary Vitreous.

Pathways for genes affiliated with Persistent Hyperplastic Primary Vitreous

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37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5CDKN2A, FZD4
29.5CDKN2A, FZD4

Compounds for genes affiliated with Persistent Hyperplastic Primary Vitreous

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44Novoseek
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Compounds related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine448.9CDKN2A, FZD4, NDP

GO Terms for genes affiliated with Persistent Hyperplastic Primary Vitreous

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16Gene Ontology
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Biological processes related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:0354269.6NDP, FZD4
2retina vasculature morphogenesis in camera-type eyeGO:0612999.5FZD4, NDP
3positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.5FZD4, NDP
4canonical Wnt receptor signaling pathwayGO:0600709.5NDP, FZD4
5sensory perception of soundGO:0076059.3NDP, FZD4
6embryo developmentGO:0097909.2FOXC1, FZD4
7brain developmentGO:0074209.2FOXC1, FZD4
8Wnt receptor signaling pathwayGO:0160559.1NDP, FZD4
9positive regulation of transcription, DNA-dependentGO:0458938.2CDKN2A, NDP, FOXC1, FZD4

Products for genes affiliated with Persistent Hyperplastic Primary Vitreous

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  • Antibodies
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Sources for Persistent Hyperplastic Primary Vitreous

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet