MCID: PRS062
MIFTS: 41

Persistent Hyperplastic Primary Vitreous

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 12 55 28 41 14
Non-Syndromic Congenital Retinal Non-Attachment 55
Persistent Fetal Vasculature Syndrome 55
Congenital Retinal Detachment 55
Ncrna Disease 55
Pfvs 55
Phpv 55

Characteristics:

Orphanet epidemiological data:

55
persistent hyperplastic primary vitreous
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060282
MeSH 41 D054514
Orphanet 55 ORPHA91495
MESH via Orphanet 42 D054514
UMLS via Orphanet 70 C0266568 C1857299
ICD10 via Orphanet 33 Q14.0
UMLS 69 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 osteoporosis-pseudoglioma syndrome and retinal detachment. An important gene associated with Persistent Hyperplastic Primary Vitreous is ATOH7 (Atonal BHLH Transcription Factor 7), and among its related pathways/superpathways is Mesodermal Commitment Pathway. Affiliated tissues include eye, pituitary and retina, and related phenotypes are cellular and behavior/neurological

Wikipedia : 72 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 60)
# Related Disease Score Top Affiliating Genes
1 osteoporosis-pseudoglioma syndrome 30.2 FZD4 NDP
2 retinal detachment 30.2 ATOH7 FZD4 NDP
3 exudative vitreoretinopathy 30.2 ATOH7 FZD4 NDP
4 coats disease 30.1 FZD4 NDP
5 peters-plus syndrome 29.9 FOXC1 PAX6 PITX2
6 glaucoma 3, primary congenital, a 29.6 FOXC1 PAX6 PITX2
7 axenfeld-rieger syndrome 29.5 FOXC1 PAX6 PITX2
8 persistent hyperplastic primary vitreous, autosomal recessive 12.8
9 persistent hyperplastic primary vitreous, autosomal dominant 12.6
10 oculopalatocerebral syndrome 11.2
11 cataract 10.5
12 isolated aniridia 10.4 FOXC1 PAX6
13 leukocoria 10.4 FZD4 NDP
14 retinal telangiectasia 10.3 FZD4 NDP
15 retinitis 10.3
16 coloboma of macula 10.2
17 morning glory syndrome 10.2
18 myopia 10.1
19 axenfeld-rieger syndrome, type 3 10.0 FOXC1 PITX2
20 hydrophthalmos 10.0 FOXC1 PITX2
21 axenfeld-rieger syndrome, type 2 10.0 FOXC1 PITX2
22 anterior segment dysgenesis 4 9.9 FOXC1 PITX2
23 exudative vitreoretinopathy 1 9.9
24 neurofibromatosis, type iv, of riccardi 9.9
25 osteoporosis 9.9
26 retinoblastoma 9.9
27 von hippel-lindau syndrome 9.9
28 grouped pigmentation of the retina 9.9
29 muscular dystrophy-dystroglycanopathy , type a, 1 9.9
30 megalocornea 9.9
31 prepapillary vascular loops 9.9
32 schizencephaly 9.9
33 norrie disease 9.9
34 retinoschisis 1, x-linked, juvenile 9.9
35 bone mineral density quantitative trait locus 8 9.9
36 bone mineral density quantitative trait locus 15 9.9
37 walker-warburg syndrome 9.9
38 amblyopia 9.9
39 microphthalmia 9.9
40 sarcoma 9.9
41 choroiditis 9.9
42 ecthyma 9.9
43 tuberous sclerosis 9.9
44 facial paralysis 9.9
45 turner syndrome 9.9
46 protein c deficiency 9.9
47 medulloepithelioma 9.9
48 adenoma 9.9
49 fetal adenoma 9.9
50 hemophilia 9.9

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C KIF2A
2 behavior/neurological MP:0005386 10.09 ATOH7 CADPS2 CDKN2A FZD4 KIF2A NDP
3 nervous system MP:0003631 10.02 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 KIF2A
4 endocrine/exocrine gland MP:0005379 9.91 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C PAX6
5 no phenotypic analysis MP:0003012 9.73 NDP NRN1 CDKN2A FZD4 KIF2A PITX2
6 pigmentation MP:0001186 9.63 CDKN2A FOXC1 FZD4 NDP PAX6 PITX2
7 reproductive system MP:0005389 9.56 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 Congenital Cataract With Persistent Fetal Vasculature Recruiting NCT03341624

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 28

Anatomical Context for Persistent Hyperplastic Primary Vitreous

MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

38
Eye, Pituitary, Retina

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 148)
# Title Authors Year
1
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
2
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous. ( 28967071 )
2017
3
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. ( 28393030 )
2017
4
Persistent hyperplastic primary vitreous (PHPV). ( 29031676 )
2017
5
Bilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report. ( 29207745 )
2017
6
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. ( 27582535 )
2016
7
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
8
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. ( 28008699 )
2016
9
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. ( 26484646 )
2015
10
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. ( 26466234 )
2015
11
Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit. ( 25623165 )
2015
12
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. ( 25564632 )
2015
13
Ultrasonographic feature of persistent hyperplastic primary vitreous. ( 26011960 )
2014
14
Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. ( 24623965 )
2014
15
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. ( 24550361 )
2014
16
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. ( 23305436 )
2013
17
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. ( 23762694 )
2013
18
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. ( 24014984 )
2013
19
Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. ( 23878133 )
2013
20
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. ( 23569541 )
2012
21
Bilateral persistent hyperplastic primary vitreous: A rare entity. ( 22557881 )
2012
22
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. ( 22407547 )
2012
23
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. ( 22946409 )
2011
24
Approach to cataract with persistent hyperplastic primary vitreous. ( 21782083 )
2011
25
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
26
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. ( 19461663 )
2010
27
Bilateral persistent hyperplastic primary vitreous. ( 19075412 )
2009
28
Persistent hyperplastic primary vitreous: congenital malformation of the eye. ( 20092598 )
2009
29
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. ( 18634129 )
2008
30
Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor. ( 17251441 )
2007
31
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. ( 17630629 )
2007
32
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). ( 16760119 )
2006
33
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. ( 16470791 )
2006
34
Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance. ( 17375531 )
2006
35
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. ( 15851549 )
2005
36
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. ( 16121558 )
2005
37
Outcomes in persistent hyperplastic primary vitreous. ( 15965167 )
2005
38
Bilateral persistent hyperplastic primary vitreous. ( 15727615 )
2005
39
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs. ( 15091321 )
2004
40
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
41
Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene. ( 15452040 )
2004
42
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. ( 12846526 )
2003
43
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. ( 14597061 )
2003
44
Persistent hyperplastic primary vitreous. ( 12776904 )
2003
45
Unilateral persistent hyperplastic primary vitreous: course and outcome. ( 11997805 )
2002
46
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. ( 12055473 )
2002
47
Persistent hyperplastic primary vitreous and von Hippel-Lindau disease: contribution of color Doppler ultrasonography. ( 12008820 )
2002
48
A case of anterior-type persistent hyperplastic primary vitreous. ( 12458849 )
2002
49
Persistent hyperplastic primary vitreous--a case report. ( 12035380 )
2001
50
Additional considerations in cases involving persistent hyperplastic primary vitreous. ( 11231790 )
2001

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
11.41 FOXC1 FZD4 PAX6 PITX2

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

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.84 ATOH7 KIF2A NDP NRN1
2 Wnt signaling pathway GO:0016055 9.72 FZD4 NDP PITX2
3 neuron differentiation GO:0030182 9.65 COPS2 FZD4 PITX2
4 regulation of cell migration GO:0030334 9.61 KIF2A PAX6 PITX2
5 camera-type eye development GO:0043010 9.54 FOXC1 PAX6 PITX2
6 eye development GO:0001654 9.52 FOXC1 PAX6
7 pituitary gland development GO:0021983 9.51 PAX6 PITX2
8 positive regulation of DNA binding GO:0043388 9.49 FOXC1 PITX2
9 histone H3-K9 demethylation GO:0033169 9.46 JMJD1C KDM3B
10 iris morphogenesis GO:0061072 9.4 PAX6 PITX2
11 blood vessel development GO:0001568 9.33 FOXC1 FZD4 PAX6
12 lacrimal gland development GO:0032808 9.32 FOXC1 PAX6
13 retina vasculature morphogenesis in camera-type eye GO:0061299 9.26 FZD4 NDP
14 positive regulation of transcription, DNA-templated GO:0045893 9.1 CDKN2A FOXC1 FZD4 NDP PAX6 PITX2
15 extracellular matrix-cell signaling GO:0035426 8.96 FZD4 NDP

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 FOXC1 PAX6 PITX2
2 transcription factor binding GO:0008134 9.46 CDKN2A FOXC1 PAX6 PITX2
3 histone demethylase activity (H3-K9 specific) GO:0032454 9.26 JMJD1C KDM3B
4 chromatin DNA binding GO:0031490 9.13 JMJD1C KDM3B PITX2
5 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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