PFVS
MCID: PRS062
MIFTS: 48

Persistent Hyperplastic Primary Vitreous (PFVS) malady

Genetic diseases, Eye diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Persistent Hyperplastic Primary Vitreous

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 glaucoma and coats disease. An important gene associated with Persistent Hyperplastic Primary Vitreous is NDP (Norrie disease (pseudoglioma)), and among its related pathways are Pathways in cancer and HTLV-I infection. The compounds histidine and arginine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and pituitary, and related mouse phenotypes are no phenotypic analysis and digestive/alimentary.

Description from OMIM:48 611308,611311

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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21GeneTests, 50Orphanet, 48OMIM, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:

Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

persistent hyperplastic primary vitreous 21 50 48
persistent fetal vasculature syndrome 50
phpv 50
pfvs 50


External Ids:

SNOMED-CT via Orphanet60 314270008, 44647001, 69927002
UMLS via Orphanet64 C0266568
MESH via Orphanet37 D054514
ICD10 via Orphanet27 Q14.0

Related Diseases for Persistent Hyperplastic Primary Vitreous

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Persistent Hyperplastic Primary Vitreous:



Diseases related to persistent hyperplastic primary vitreous

Symptoms for Persistent Hyperplastic Primary Vitreous

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48OMIM
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Clinical features from OMIM:

611308,611311

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Persistent Hyperplastic Primary Vitreous

Drug clinical trials:

Search ClinicalTrials for Persistent Hyperplastic Primary Vitreous

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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21GeneTests
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Genetic tests related to Persistent Hyperplastic Primary Vitreous:

id Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous21

Anatomical Context for Persistent Hyperplastic Primary Vitreous

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34MalaCards
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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

34
Eye, Retina, Pituitary

Animal Models for Persistent Hyperplastic Primary Vitreous or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.2CDKN2A, FZD4, NDP
2MP:00053818.8FOXC1, FZD4, CDKN2A
3MP:00053698.7FZD4, FOXC1, CDKN2A
4MP:00053908.7CDKN2A, FOXC1, NDP
5MP:00053798.7FOXC1, CDKN2A, FZD4
6MP:00053868.6NDP, FZD4, ATOH7, CDKN2A
7MP:00028738.5FZD4, ATOH7, FOXC1
8MP:00107718.5FZD4, FOXC1, CDKN2A
9MP:00011868.4FOXC1, FZD4, CDKN2A, NDP
10MP:00053808.3CDKN2A, FOXC1, FZD4
11MP:00053858.3NDP, FOXC1, FZD4, ATOH7
12MP:00053848.2FOXC1, ATOH7, CDKN2A, FZD4
13MP:00053917.8ATOH7, FZD4, FOXC1, NDP, CDKN2A
14MP:00053897.8ATOH7, FZD4, FOXC1, NDP, CDKN2A
15MP:00036317.8CDKN2A, NDP, FZD4, ATOH7, FOXC1

Publications for Persistent Hyperplastic Primary Vitreous

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53PubMed
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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 131)
idTitleAuthorsYear
1
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
2
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
3
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
4
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
5
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
6
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. (22946409)
2011
7
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
2010
8
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
9
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
10
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. (17630629)
2007
11
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
12
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
13
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. (16121558)
2005
14
Persistent hyperplastic primary vitreous. (12776904)
2003
15
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. (14597061)
2003
16
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
17
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
18
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
19
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous. (10951297)
2000
20
Surgical results of persistent hyperplastic primary vitreous. (9951477)
1999
21
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. (10471898)
1999
22
Incising the thick retrolental fibrovascular tissue with a hooked sclerotome in persistent hyperplastic primary vitreous. (10574499)
1999
23
Persistent hyperplastic primary vitreous: MRI. (10450848)
1999
24
Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous. (9747677)
1998
25
Persistent hyperplastic primary vitreous in male twins. (9510656)
1997
26
Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). LIV Edward Jackson Memorial Lecture. (9372715)
1997
27
Results of treatment of persistent hyperplastic primary vitreous. (2014111)
1991
28
Persistent hyperplastic primary vitreous with glaucoma presenting in infancy. (1867540)
1991
29
Persistent hyperplastic primary vitreous with vertical transmission. (2377350)
1990
30
Persistent hyperplastic primary vitreous in the right eye and congenital grouped pigmentation of the retina in the left. (2498796)
1989
31
Posterior persistent hyperplastic primary vitreous. (3377066)
1988
32
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. (3085500)
1986
33
Pediatric case of the day. Persistent hyperplastic primary vitreous. (3685512)
1986
34
Visual acuity results following treatment of persistent hyperplastic primary vitreous. (3707410)
1986
35
Treatment of persistent hyperplastic primary vitreous. (4045646)
1985
36
Changes in the contralateral eye in uncomplicated persistent hyperplastic primary vitreous in adults. (3881971)
1985
37
Morphological study on the human developing vitreous collagen fibrils and persistent hyperplastic primary vitreous. (3982784)
1985
38
Phacoanaphylactoid reaction in persistent hyperplastic primary vitreous. (3876535)
1985
39
Computed tomography for diagnosis of persistent hyperplastic primary vitreous (PHPV). (6877776)
1983
40
Persistent hyperplastic primary vitreous. Surgical treatment. (6877777)
1983
41
Persistent hyperplastic primary vitreous. (6879656)
1983
42
Management of persistent hyperplastic primary vitreous. (6639512)
1983
43
Microsurgery of persistent hyperplastic primary vitreous. (7145331)
1982
44
Persistent hyperplastic primary vitreous (PHPV in an adult--a case report). (7141585)
1982
45
Surgical management of persistent hyperplastic primary vitreous. (7343346)
1981
46
Persistent hyperplastic primary vitreous in a dog. (965282)
1976
47
Surgical excision of persistent hyperplastic primary vitreous. (5411527)
1970
48
Intraocular adipose tissue and persistent hyperplastic primary vitreous. (5791501)
1969
49
Persistent hyperplastic primary vitreous in an adult. A brief review of the literature and a histopathologic study. (6022739)
1967
50
Persistent hyperplastic primary vitreous; special reference to preretinal glial tissue as a pathological characteristic and to the development of the primary vitreous. (13497373)
1958

Variations for Persistent Hyperplastic Primary Vitreous

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Persistent Hyperplastic Primary Vitreous:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATOH7NM_145178.3(ATOH7): c.146A> T (p.Glu49Val)single nucleotide variantPathogenic/card/persistent_hyperplastic_primary_vitreousGRCh37Chr 10, 69991289: 69991289
2ATOH7ATOH7, 1-BP DEL, 53CdeletionPathogenic/card/persistent_hyperplastic_primary_vitreous
3ATOH7NM_145178.3(ATOH7): c.136A> C (p.Asn46His)single nucleotide variantPathogenic/card/persistent_hyperplastic_primary_vitreousGRCh37Chr 10, 69991299: 69991299
4ATOH7NC_000010.11: g.68247363_68253885del6523deletionPathogenic/card/persistent_hyperplastic_primary_vitreousGRCh38Chr 10, 68247363: 68253885

Expression for genes affiliated with Persistent Hyperplastic Primary Vitreous

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4CDKN2A, FZD4
29.4CDKN2A, FZD4
3
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
9.4CDKN2A, FZD4
49.4CDKN2A, FZD4

Compounds for genes affiliated with Persistent Hyperplastic Primary Vitreous

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46Novoseek
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Compounds related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1histidine469.4CDKN2A, FZD4
2arginine468.7CDKN2A, NDP, FZD4

GO Terms for genes affiliated with Persistent Hyperplastic Primary Vitreous

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17Gene 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:0354269.7FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:0612999.6NDP, FZD4
3canonical Wnt signaling pathwayGO:0600709.6NDP, FZD4
4positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6FZD4, NDP
5sensory perception of soundGO:0076059.4NDP, FZD4
6Wnt signaling pathwayGO:0160559.2NDP, FZD4
7embryo developmentGO:0097909.1FOXC1, FZD4
8brain developmentGO:0074209.1FOXC1, FZD4
9positive regulation of transcription, DNA-templatedGO:0458938.4CDKN2A, NDP, FOXC1, FZD4

Molecular functions related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081348.8CDKN2A, FOXC1
2DNA bindingGO:0036778.5CDKN2A, FOXC1, ATOH7

Products for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Sources for Persistent Hyperplastic Primary Vitreous

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet