PFVS
MCID: PRS062
MIFTS: 41

Persistent Hyperplastic Primary Vitreous (PFVS) malady

Eye, Cardiovascular categories

Summaries for Persistent Hyperplastic Primary Vitreous

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 norrie 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 retina and pituitary, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:47 611308,611311

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

Sources:
20GeneTests, 49Orphanet, 47OMIM, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

persistent hyperplastic primary vitreous 20 49 47
persistent fetal vasculature syndrome 49
phpv 49
pfvs 49


External Ids:

SNOMED-CT via Orphanet58 314270008, 44647001
UMLS via Orphanet62 C0266568
MESH via Orphanet36 D054514
ICD10 via Orphanet26 Q14.0

Related Diseases for Persistent Hyperplastic Primary Vitreous

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

611308,611311

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

33
Retina, Pituitary

Animal Models for Persistent Hyperplastic Primary Vitreous or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Persistent Hyperplastic Primary Vitreous

Sources:
51PubMed
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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 133)
idTitleAuthorsYear
1
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
2
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. (24014984)
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
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
5
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
6
Persistent hyperplastic primary vitreous: congenital malformation of the eye. (20092598)
2009
7
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
8
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. (16470791)
2006
9
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
10
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. (16121558)
2005
11
Outcomes in persistent hyperplastic primary vitreous. (15965167)
2005
12
Bilateral persistent hyperplastic primary vitreous. (15727615)
2005
13
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. (12846526)
2003
14
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
15
A case of anterior-type persistent hyperplastic primary vitreous. (12458849)
2002
16
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
17
Additional considerations in cases involving persistent hyperplastic primary vitreous. (11231790)
2001
18
Persistent hyperplastic primary vitreous--a case report. (12035380)
2001
19
Treatment of posterior persistent hyperplastic primary vitreous complicated by tractional retinoschisis in an adult. (11508890)
2001
20
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous. (10951297)
2000
21
Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in transgenic line TgN3261Rpw. (11055865)
2000
22
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. (10471898)
1999
23
Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous. (9747677)
1998
24
Persistent hyperplastic primary vitreous (PHPV) in two Siberian husky dogs. (9524956)
1998
25
Persistent hyperplastic primary vitreous in male twins. (9510656)
1997
26
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. (9134299)
1997
27
Persistent hyperplastic primary vitreous: diagnosis, treatment and results. (9440186)
1997
28
Ultrastructure of persistent hyperplastic primary vitreous (PHPV) (1869071)
1991
29
Ultrastructural pathology of anterior persistent hyperplastic primary vitreous. (2227497)
1990
30
Persistent hyperplastic primary vitreous associated with protein C deficiency. (2185637)
1990
31
Case of the day. Pediatric. Persistent hyperplastic primary vitreous (PHPV). (2343171)
1990
32
Rieger's eye anomaly and persistent hyperplastic primary vitreous. (2628817)
1989
33
Management and visual acuity results of monocular congenital cataracts and persistent hyperplastic primary vitreous. (2757829)
1989
34
Malignant teratoid medulloepithelioma of the ciliary body simulating persistent hyperplastic primary vitreous. (2923158)
1989
35
Persistent hyperplastic primary vitreous (PHPV): role of computed tomography and magnetic resonance. (3602360)
1987
36
Visual acuity results following treatment of persistent hyperplastic primary vitreous. (3707410)
1986
37
Treatment of congenital cataracts and persistent hyperplastic primary vitreous. (3523857)
1986
38
Changes in the contralateral eye in uncomplicated persistent hyperplastic primary vitreous in adults. (3881971)
1985
39
Morphological study on the human developing vitreous collagen fibrils and persistent hyperplastic primary vitreous. (3982784)
1985
40
The pars plana approach in two cases of persistent hyperplastic primary vitreous (PHPV). (6545384)
1984
41
Persistent hyperplastic primary vitreous. Surgical treatment. (6877777)
1983
42
Management of persistent hyperplastic primary vitreous. (6639512)
1983
43
Persistent hyperplastic primary vitreous in an adult: case report with fluorescein angiographic findings. (739354)
1978
44
Persistent hyperplastic primary vitreous: roto-extraction and other surgical experience. (402128)
1977
45
Management of persistent hyperplastic primary vitreous by pars plana vitrectomy. (1009053)
1976
46
Persistent hyperplastic primary vitreous at the optic nerve head. (5020173)
1972
47
Surgical excision of persistent hyperplastic primary vitreous. (5411527)
1970
48
Persistent hyperplastic primary vitreous. Early surgical management. (6061529)
1967
49
Persistent hyperplastic primary vitreous humor; a finding in a 71-year-old man. (5616901)
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

Genetic Variations for Persistent Hyperplastic Primary Vitreous

Expression for genes affiliated with Persistent Hyperplastic Primary Vitreous

Sources:
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

Sources:
38NCBI BioSystems Database, 52QIAGEN
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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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45Novoseek
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Compounds related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine458.9CDKN2A, FZD4, NDP

GO Terms for genes affiliated with Persistent Hyperplastic Primary Vitreous

Sources:
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:0354269.6FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:0612999.5FZD4, NDP
3canonical Wnt receptor signaling pathwayGO:0600709.5NDP, FZD4
4positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.5NDP, FZD4
5sensory perception of soundGO:0076059.3NDP, FZD4
6embryo developmentGO:0097909.2FZD4, FOXC1
7brain developmentGO:0074209.2FZD4, FOXC1
8Wnt receptor signaling pathwayGO:0160559.1FZD4, NDP
9positive regulation of transcription, DNA-dependentGO:0458938.2NDP, FOXC1, FZD4, CDKN2A

Products for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Sources for Persistent Hyperplastic Primary Vitreous

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet