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 59 37 29 44 15
Non-Syndromic Congenital Retinal Non-Attachment 59
Persistent Fetal Vasculature Syndrome 59
Congenital Retinal Detachment 59
Ncrna Disease 59
Pfvs 59
Phpv 59

Characteristics:

Orphanet epidemiological data:

59
persistent hyperplastic primary vitreous
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060282
MeSH 44 D054514
SNOMED-CT 68 44647001 69927002
Orphanet 59 ORPHA91495
UMLS via Orphanet 74 C1857299 C0266568
ICD10 via Orphanet 34 Q14.0
MESH via Orphanet 45 D054514
KEGG 37 H02112
UMLS 73 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

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), and among its related pathways/superpathways are Clathrin-mediated endocytosis and Heart Development. Affiliated tissues include eye, pituitary and retina, and related phenotypes are behavior/neurological and cellular

Wikipedia : 76 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 34.8 ATOH7 TSPAN12
2 leukocoria 30.3 FZD4 NDP
3 osteoporosis-pseudoglioma syndrome 30.2 FZD4 NDP
4 axenfeld-rieger syndrome 30.2 FOXC1 PITX2
5 coats disease 30.2 FZD4 NDP TSPAN12
6 norrie disease 30.2 FZD4 NDP TSPAN12
7 exudative vitreoretinopathy 1 30.2 FZD4 NDP TSPAN12
8 retinal detachment 30.1 ATOH7 FZD4 NDP TSPAN12
9 exudative vitreoretinopathy 30.1 ATOH7 FZD4 NDP TSPAN12
10 glaucoma 3, primary congenital, a 29.9 FOXC1 PITX2
11 persistent hyperplastic primary vitreous, autosomal dominant 12.8
12 oculopalatocerebral syndrome 11.4
13 cataract 10.6
14 peters-plus syndrome 10.3
15 myopia 10.2
16 sympathetic ophthalmia 10.2
17 vacterl association 10.2
18 retinal telangiectasia 10.1 FZD4 NDP TSPAN12
19 axenfeld-rieger syndrome, type 2 10.1 FOXC1 PITX2
20 retinal vascular disease 10.1 FZD4 NDP TSPAN12
21 hydrophthalmos 10.1 FOXC1 PITX2
22 anterior segment dysgenesis 4 10.1 FOXC1 PITX2
23 axenfeld-rieger syndrome, type 3 10.1 FOXC1 PITX2
24 intestinal atresia 10.1 FOXC1 PITX2
25 iris disease 10.0 FOXC1 PITX2
26 osteoporosis 10.0
27 retinoblastoma 10.0
28 grouped pigmentation of the retina 10.0
29 megalocornea 10.0
30 schizencephaly 10.0
31 aicardi syndrome 10.0
32 walker-warburg syndrome 10.0
33 amblyopia 10.0
34 microphthalmia 10.0
35 sarcoma 10.0
36 ecthyma 10.0
37 tuberous sclerosis 10.0
38 facial paralysis 10.0
39 turner syndrome 10.0
40 protein c deficiency 10.0
41 medulloepithelioma 10.0
42 adenoma 10.0
43 fetal adenoma 10.0
44 hemophilia 10.0
45 anterior segment dysgenesis 10.0
46 aqueous misdirection 10.0
47 autism 10.0
48 autism spectrum disorder 10.0
49 panophthalmitis 10.0
50 primary congenital glaucoma 10.0 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

MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATOH7 CADPS2 CDKN2A FZD4 KIF2A NDP
2 cellular MP:0005384 10.02 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C
3 nervous system MP:0003631 9.97 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 KIF2A
4 cardiovascular system MP:0005385 9.95 ATOH7 CDKN2A FOXC1 FZD4 NDP PITX2
5 no phenotypic analysis MP:0003012 9.73 CDKN2A FZD4 KIF2A NDP NRN1 PITX2
6 pigmentation MP:0001186 9.55 CDKN2A FOXC1 FZD4 NDP PITX2
7 reproductive system MP:0005389 9.5 ATOH7 CDKN2A FOXC1 FZD4 JMJD1C NDP
8 vision/eye MP:0005391 9.23 ATOH7 CDKN2A FOXC1 FZD4 JMJD1C NDP

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

Interventional clinical trials:


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

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 29

Anatomical Context for Persistent Hyperplastic Primary Vitreous

MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

41
Eye, Pituitary, Retina, Bone

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 153)
# Title Authors Year
1
Prenatal diagnosis of bilateral persistent hyperplastic primary vitreous: A case report. ( 29673626 )
2018
2
VITRECTOMY FOR PHACOANAPHYLACTIC GLAUCOMA SECONDARY TO POSTERIOR CAPSULAR RUPTURE IN AN ADULT WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS. ( 29554053 )
2018
3
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. ( 28008699 )
2018
4
Persistent hyperplastic primary vitreous (PHPV). ( 29031676 )
2017
5
Bilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report. ( 29207745 )
2017
6
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous. ( 28967071 )
2017
7
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. ( 28393030 )
2017
8
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
9
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
10
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. ( 27582535 )
2016
11
Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit. ( 25623165 )
2015
12
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. ( 26466234 )
2015
13
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. ( 26484646 )
2015
14
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. ( 25564632 )
2015
15
Ultrasonographic feature of persistent hyperplastic primary vitreous. ( 26011960 )
2014
16
Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. ( 24623965 )
2014
17
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. ( 24550361 )
2014
18
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. ( 23305436 )
2013
19
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. ( 23762694 )
2013
20
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. ( 24014984 )
2013
21
Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. ( 23878133 )
2013
22
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. ( 23569541 )
2012
23
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. ( 22407547 )
2012
24
Bilateral persistent hyperplastic primary vitreous: A rare entity. ( 22557881 )
2012
25
Approach to cataract with persistent hyperplastic primary vitreous. ( 21782083 )
2011
26
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. ( 22946409 )
2011
27
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. ( 19461663 )
2010
28
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
29
Bilateral persistent hyperplastic primary vitreous. ( 19075412 )
2009
30
Persistent hyperplastic primary vitreous: congenital malformation of the eye. ( 20092598 )
2009
31
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. ( 18634129 )
2008
32
Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor. ( 17251441 )
2007
33
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. ( 17630629 )
2007
34
Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance. ( 17375531 )
2006
35
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. ( 16470791 )
2006
36
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). ( 16760119 )
2006
37
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. ( 16121558 )
2005
38
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. ( 15851549 )
2005
39
Outcomes in persistent hyperplastic primary vitreous. ( 15965167 )
2005
40
Bilateral persistent hyperplastic primary vitreous. ( 15727615 )
2005
41
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
42
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs. ( 15091321 )
2004
43
Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene. ( 15452040 )
2004
44
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. ( 14597061 )
2003
45
Persistent hyperplastic primary vitreous. ( 12776904 )
2003
46
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. ( 12846526 )
2003
47
Unilateral persistent hyperplastic primary vitreous: course and outcome. ( 11997805 )
2002
48
Persistent hyperplastic primary vitreous and von Hippel-Lindau disease: contribution of color Doppler ultrasonography. ( 12008820 )
2002
49
A case of anterior-type persistent hyperplastic primary vitreous. ( 12458849 )
2002
50
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. ( 12055473 )
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 COPS2 FNBP1 FZD4
2 10.62 FOXC1 PITX2

GO Terms for Persistent Hyperplastic Primary Vitreous

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.77 ATOH7 FOXC1 FZD4 KIF2A PITX2
2 positive regulation of transcription, DNA-templated GO:0045893 9.71 CDKN2A FOXC1 FZD4 NDP
3 nervous system development GO:0007399 9.56 ATOH7 KIF2A NDP NRN1
4 Wnt signaling pathway GO:0016055 9.5 FZD4 NDP TSPAN12
5 histone H3-K9 demethylation GO:0033169 9.16 JMJD1C KDM3B
6 retina vasculature morphogenesis in camera-type eye GO:0061299 8.96 FZD4 NDP
7 extracellular matrix-cell signaling GO:0035426 8.62 FZD4 NDP

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

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

Sources for Persistent Hyperplastic Primary Vitreous

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11 DGIdb
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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