PFVS
MCID: PRS062
MIFTS: 40

Persistent Hyperplastic Primary Vitreous (PFVS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 12 60 38 30 45 15
Non-Syndromic Congenital Retinal Non-Attachment 60
Persistent Fetal Vasculature Syndrome 60
Congenital Retinal Detachment 60
Ncrna Disease 60
Pfvs 60
Phpv 60

Characteristics:

Orphanet epidemiological data:

60
persistent hyperplastic primary vitreous
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060282
KEGG 38 H02112
MeSH 45 D054514
SNOMED-CT 69 44647001 69927002
MESH via Orphanet 46 D054514
ICD10 via Orphanet 35 Q14.0
UMLS via Orphanet 75 C0266568 C1857299
Orphanet 60 ORPHA91495
UMLS 74 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

Disease Ontology : 12 A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.

MalaCards based summary : Persistent Hyperplastic Primary Vitreous, also known as non-syndromic congenital retinal non-attachment, is related to persistent hyperplastic primary vitreous, autosomal recessive and leukocoria. An important gene associated with Persistent Hyperplastic Primary Vitreous is ATOH7 (Atonal BHLH Transcription Factor 7). Affiliated tissues include eye, pituitary and retina, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and cardiovascular system

Wikipedia : 77 Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a... more...

Related Diseases for Persistent Hyperplastic Primary Vitreous

Diseases in the Persistent Hyperplastic Primary Vitreous family:

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Persistent Hyperplastic Primary Vitreous, Autosomal Dominant

Diseases related to Persistent Hyperplastic Primary Vitreous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 35.0 ATOH7 TSPAN12
2 leukocoria 30.4 FZD4 NDP
3 osteoporosis-pseudoglioma syndrome 30.3 FZD4 NDP
4 coats disease 30.3 FZD4 NDP TSPAN12
5 norrie disease 30.3 FZD4 NDP TSPAN12
6 exudative vitreoretinopathy 1 30.3 FZD4 NDP TSPAN12
7 retinal detachment 30.1 ATOH7 FZD4 NDP TSPAN12
8 exudative vitreoretinopathy 30.1 ATOH7 FZD4 NDP TSPAN12
9 persistent hyperplastic primary vitreous, autosomal dominant 12.8
10 oculopalatocerebral syndrome 11.4
11 cataract 10.6
12 peters-plus syndrome 10.3
13 myopia 10.2
14 sympathetic ophthalmia 10.2
15 vacterl association 10.2
16 retinal telangiectasia 10.2 FZD4 NDP TSPAN12
17 retinal vascular disease 10.1 FZD4 NDP TSPAN12
18 axenfeld-rieger syndrome, type 2 10.1 FOXC1 PITX2
19 hydrophthalmos 10.1 FOXC1 PITX2
20 anterior segment dysgenesis 4 10.0 FOXC1 PITX2
21 osteoporosis 10.0
22 retinoblastoma 10.0
23 glaucoma 3, primary congenital, a 10.0
24 grouped pigmentation of the retina 10.0
25 megalocornea 10.0
26 schizencephaly 10.0
27 aicardi syndrome 10.0
28 walker-warburg syndrome 10.0
29 amblyopia 10.0
30 microphthalmia 10.0
31 sarcoma 10.0
32 ecthyma 10.0
33 tuberous sclerosis 10.0
34 facial paralysis 10.0
35 axenfeld-rieger syndrome 10.0
36 turner syndrome 10.0
37 protein c deficiency 10.0
38 medulloepithelioma 10.0
39 adenoma 10.0
40 fetal adenoma 10.0
41 hemophilia 10.0
42 anterior segment dysgenesis 10.0
43 aqueous misdirection 10.0
44 axenfeld-rieger syndrome, type 3 10.0 FOXC1 PITX2
45 autism 10.0
46 autism spectrum disorder 10.0
47 panophthalmitis 10.0
48 intestinal atresia 10.0 FOXC1 PITX2
49 iris disease 10.0 FOXC1 PITX2
50 primary congenital glaucoma 9.9 FOXC1 PITX2

Graphical network of the top 20 diseases related to Persistent Hyperplastic Primary Vitreous:



Diseases related to Persistent Hyperplastic Primary Vitreous

Symptoms & Phenotypes for Persistent Hyperplastic Primary Vitreous

GenomeRNAi Phenotypes related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 CALM2 FZD4 JMJD1C KDM3B SKI TSPAN12

MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 ATOH7 CDKN2A FOXC1 FZD4 NDP PITX2
2 cellular MP:0005384 9.97 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C
3 nervous system MP:0003631 9.91 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 KIF2A
4 pigmentation MP:0001186 9.55 CDKN2A FOXC1 FZD4 NDP PITX2
5 reproductive system MP:0005389 9.5 ATOH7 CDKN2A FOXC1 FZD4 JMJD1C NDP
6 vision/eye MP:0005391 9.28 ATOH7 CDKN2A FOXC1 FZD4 JMJD1C NDP

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Cataract With Persistent Fetal Vasculature Recruiting NCT03341624 Not Applicable
2 Iridocorneal Angle and Anterior Segment Structure in Eyes of Children With Cataract Completed NCT03778086

Search NIH Clinical Center for Persistent Hyperplastic Primary Vitreous

Cochrane evidence based reviews: persistent hyperplastic primary vitreous

Genetic Tests for Persistent Hyperplastic Primary Vitreous

Genetic tests related to Persistent Hyperplastic Primary Vitreous:

# Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous 30

Anatomical Context for Persistent Hyperplastic Primary Vitreous

MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

42
Eye, Pituitary, Retina

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 155)
# Title Authors Year
1
Persistent hyperplastic primary vitreous in two piglets. ( 30643102 )
2019
2
In vivo detecting mouse persistent hyperplastic primary vitreous by Spectralis Optical Coherence Tomography. ( 30817926 )
2019
3
Prenatal diagnosis of bilateral persistent hyperplastic primary vitreous: A case report. ( 29673626 )
2018
4
VITRECTOMY FOR PHACOANAPHYLACTIC GLAUCOMA SECONDARY TO POSTERIOR CAPSULAR RUPTURE IN AN ADULT WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS. ( 29554053 )
2018
5
Persistent hyperplastic primary vitreous (PHPV). ( 29031676 )
2017
6
Bilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report. ( 29207745 )
2017
7
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous. ( 28967071 )
2017
8
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. ( 28393030 )
2017
9
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
10
Congenital cataract associated with persistent hyperplastic primary vitreous and persistent tunica vasculosa lentis in a sambar deer (Rusa unicolor) - clinical, ultrasonographic, and histological findings. ( 27386118 )
2016
11
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. ( 27582535 )
2016
12
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. ( 28008699 )
2016
13
Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit. ( 25623165 )
2015
14
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. ( 26466234 )
2015
15
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. ( 26484646 )
2015
16
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. ( 25564632 )
2015
17
Ultrasonographic feature of persistent hyperplastic primary vitreous. ( 26011960 )
2014
18
Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. ( 24623965 )
2014
19
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. ( 24550361 )
2014
20
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. ( 23305436 )
2013
21
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. ( 23762694 )
2013
22
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. ( 24014984 )
2013
23
Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. ( 23878133 )
2013
24
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. ( 23569541 )
2012
25
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. ( 22407547 )
2012
26
Bilateral persistent hyperplastic primary vitreous: A rare entity. ( 22557881 )
2012
27
Approach to cataract with persistent hyperplastic primary vitreous. ( 21782083 )
2011
28
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. ( 22946409 )
2011
29
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. ( 19461663 )
2010
30
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
31
Bilateral persistent hyperplastic primary vitreous. ( 19075412 )
2009
32
Persistent hyperplastic primary vitreous: congenital malformation of the eye. ( 20092598 )
2009
33
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. ( 18634129 )
2008
34
Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor. ( 17251441 )
2007
35
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. ( 17630629 )
2007
36
Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance. ( 17375531 )
2006
37
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. ( 16470791 )
2006
38
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). ( 16760119 )
2006
39
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. ( 16121558 )
2005
40
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. ( 15851549 )
2005
41
Outcomes in persistent hyperplastic primary vitreous. ( 15965167 )
2005
42
Bilateral persistent hyperplastic primary vitreous. ( 15727615 )
2005
43
Surgical management and histologic and immunohistochemical features of a cataract and retrolental plaque secondary to persistent hyperplastic tunica vasculosa lentis/persistent hyperplastic primary vitreous (PHTVL/PHPV) in a Bloodhound puppy. ( 15310298 )
2004
44
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs. ( 15091321 )
2004
45
Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene. ( 15452040 )
2004
46
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. ( 14597061 )
2003
47
Persistent hyperplastic primary vitreous. ( 12776904 )
2003
48
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. ( 12846526 )
2003
49
Unilateral persistent hyperplastic primary vitreous: course and outcome. ( 11997805 )
2002
50
Persistent hyperplastic primary vitreous and von Hippel-Lindau disease: contribution of color Doppler ultrasonography. ( 12008820 )
2002

Variations for Persistent Hyperplastic Primary Vitreous

Expression for Persistent Hyperplastic Primary Vitreous

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

Pathways for Persistent Hyperplastic Primary Vitreous

GO Terms for Persistent Hyperplastic Primary Vitreous

Cellular components related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.23 CADPS2 CDKN2A COPS2 FOXC1 JMJD1C KDM3B
2 spindle microtubule GO:0005876 8.96 CALM2 KIF2A

Biological processes related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.67 COPS2 FOXC1 NDP SKI
2 camera-type eye development GO:0043010 9.43 FOXC1 PITX2 SKI
3 histone H3-K9 demethylation GO:0033169 9.32 JMJD1C KDM3B
4 retina vasculature morphogenesis in camera-type eye GO:0061299 9.16 FZD4 NDP
5 extracellular matrix-cell signaling GO:0035426 8.96 FZD4 NDP
6 positive regulation of DNA binding GO:0043388 8.8 CALM2 FOXC1 SKI

Molecular functions related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.26 CALM2 CDKN2A
2 Wnt-activated receptor activity GO:0042813 9.16 FZD4 TSPAN12
3 histone demethylase activity (H3-K9 specific) GO:0032454 8.96 JMJD1C KDM3B
4 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 JMJD1C KDM3B PITX2

Sources for Persistent Hyperplastic Primary Vitreous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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