MCID: PRS062
MIFTS: 40

Persistent Hyperplastic Primary Vitreous

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 12 59 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
Orphanet 59 ORPHA91495
UMLS via Orphanet 74 C1857299 C0266568
ICD10 via Orphanet 34 Q14.0
MESH via Orphanet 45 D054514
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 coats disease. 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 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 56)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 35.3 ATOH7 TSPAN12
2 coats disease 30.4 FZD4 NDP TSPAN12
3 norrie disease 30.3 FZD4 NDP TSPAN12
4 osteoporosis-pseudoglioma syndrome 30.3 FZD4 NDP
5 exudative vitreoretinopathy 1 30.3 FZD4 NDP TSPAN12
6 retinal detachment 30.0 ATOH7 FZD4 NDP TSPAN12
7 exudative vitreoretinopathy 30.0 ATOH7 FZD4 NDP TSPAN12
8 peters-plus syndrome 29.9 FOXC1 PAX6 PITX2
9 glaucoma 3, primary congenital, a 29.7 FOXC1 PAX6 PITX2
10 axenfeld-rieger syndrome 29.7 FOXC1 PAX6 PITX2
11 anterior segment dysgenesis 29.6 FOXC1 PAX6 PITX2
12 persistent hyperplastic primary vitreous, autosomal dominant 12.6
13 oculopalatocerebral syndrome 11.2
14 isolated aniridia 10.6 FOXC1 PAX6
15 cataract 10.5
16 leukocoria 10.5 FZD4 NDP
17 retinal telangiectasia 10.4 FZD4 NDP TSPAN12
18 retinal vascular disease 10.3 FZD4 NDP TSPAN12
19 retinitis 10.3
20 axenfeld-rieger syndrome, type 3 10.2 FOXC1 PITX2
21 hydrophthalmos 10.2 FOXC1 PITX2
22 morning glory syndrome 10.2
23 axenfeld-rieger syndrome, type 2 10.1 FOXC1 PITX2
24 anterior segment dysgenesis 4 10.1 FOXC1 PITX2
25 intraocular pressure quantitative trait locus 10.1 FOXC1 PITX2
26 myopia 10.1
27 cornea plana 10.0 FOXC1 PITX2
28 anterior segment dysgenesis 1 9.9 PAX6 PITX2
29 osteoporosis 9.9
30 retinoblastoma 9.9
31 grouped pigmentation of the retina 9.9
32 muscular dystrophy-dystroglycanopathy , type a, 1 9.9
33 megalocornea 9.9
34 prepapillary vascular loops 9.9
35 schizencephaly 9.9
36 walker-warburg syndrome 9.9
37 amblyopia 9.9
38 microphthalmia 9.9
39 sarcoma 9.9
40 choroiditis 9.9
41 ecthyma 9.9
42 tuberous sclerosis 9.9
43 facial paralysis 9.9
44 turner syndrome 9.9
45 protein c deficiency 9.9
46 medulloepithelioma 9.9
47 adenoma 9.9
48 fetal adenoma 9.9
49 hemophilia 9.9
50 intestinal atresia 9.9 FOXC1 PAX6 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 cardiovascular system MP:0005385 10.01 ATOH7 CDKN2A FOXC1 FZD4 NDP PAX6
4 nervous system MP:0003631 9.91 KIF2A NDP PAX6 PITX2 ATOH7 CADPS2
5 endocrine/exocrine gland MP:0005379 9.87 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C PAX6
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 9.28 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

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

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 150)
# 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
Persistent hyperplastic primary vitreous (PHPV). ( 29031676 )
2017
4
Bilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report. ( 29207745 )
2017
5
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous. ( 28967071 )
2017
6
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. ( 28393030 )
2017
7
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
8
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
9
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. ( 27582535 )
2016
10
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. ( 28008699 )
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
11.41 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 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.93 ATOH7 FOXC1 FZD4 KIF2A PAX6 PITX2
2 Wnt signaling pathway GO:0016055 9.72 FZD4 NDP PITX2
3 neuron differentiation GO:0030182 9.67 COPS2 FZD4 PITX2
4 regulation of cell migration GO:0030334 9.61 KIF2A PAX6 PITX2
5 eye development GO:0001654 9.54 FOXC1 PAX6
6 pituitary gland development GO:0021983 9.52 PAX6 PITX2
7 positive regulation of DNA binding GO:0043388 9.51 FOXC1 PITX2
8 camera-type eye development GO:0043010 9.5 FOXC1 PAX6 PITX2
9 histone H3-K9 demethylation GO:0033169 9.48 JMJD1C KDM3B
10 iris morphogenesis GO:0061072 9.4 PAX6 PITX2
11 retina vasculature morphogenesis in camera-type eye GO:0061299 9.37 FZD4 NDP
12 blood vessel development GO:0001568 9.33 FOXC1 FZD4 PAX6
13 lacrimal gland development GO:0032808 9.26 FOXC1 PAX6
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
16 regulation of transcription, DNA-templated GO:0006355 10.1 ATOH7 CDKN2A FOXC1 JMJD1C KDM3B PAX6

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.56 CDKN2A FOXC1 PAX6 PITX2
2 Wnt-activated receptor activity GO:0042813 9.32 FZD4 TSPAN12
3 histone demethylase activity (H3-K9 specific) GO:0032454 9.16 JMJD1C KDM3B
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.13 JMJD1C KDM3B PITX2
5 chromatin DNA binding GO:0031490 8.8 JMJD1C KDM3B PITX2

Sources for Persistent Hyperplastic Primary Vitreous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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