PFVS
MCID: PRS062
MIFTS: 50

Persistent Hyperplastic Primary Vitreous (PFVS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 11 58 28 5 43 14 75
Non-Syndromic Congenital Retinal Non-Attachment 58
Persistent Fetal Vasculature Syndrome 58
Congenital Retinal Detachment 58
Ncrna Disease 58
Pfvs 58
Phpv 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0060282
MeSH 43 D054514
NCIt 49 C161554
SNOMED-CT 68 69927002
MESH via Orphanet 44 D054514
ICD10 via Orphanet 32 Q14.0
UMLS via Orphanet 72 C0266568 C1857299
Orphanet 58 ORPHA91495
UMLS 71 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

Orphanet: 58 A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.

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 amblyopia. An important gene associated with Persistent Hyperplastic Primary Vitreous is NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are Malignant pleural mesothelioma and Breast cancer pathway. Affiliated tissues include eye, retina and brain, and related phenotypes are corneal opacity and microphthalmia

Disease Ontology: 11 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.

Wikipedia: 75 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 193)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 33.5 TSPAN12 ATOH7
2 amblyopia 31.2 PAX6 CRYGS CRYBB1 CRYBA1 CRYAA
3 retinal detachment 31.1 ZNF408 TSPAN12 PAX6 NDP-AS1 NDP LRP5
4 coloboma of optic nerve 31.0 PAX6 FZD5 CRYGS CRYAA
5 leukocoria 31.0 ZNF408 TSPAN12 PAX6 NDP-AS1 NDP LRP5
6 glaucoma 3, primary congenital, a 30.9 PITX2 PAX6 FOXC1
7 intraocular pressure quantitative trait locus 30.8 PITX2 PAX6 FOXC1 CRYAA ATOH7
8 cataract 30.8 PITX2 PAX6 FOXC1 EFNA5 CRYGS CRYBB1
9 peters-plus syndrome 30.8 PITX2 PAX6 FOXC1 CRYAA
10 esotropia 30.8 PAX6 CRYBA1 CRYAA
11 pathologic nystagmus 30.8 PAX6 CRYAA
12 strabismus 30.7 ZNF408 TSPAN12 PITX2 PAX6 FZD4 CRYAA
13 posterior polar cataract 30.7 CRYGS CRYBB1 CRYBA1 CRYAA
14 retinochoroidal coloboma 30.7 PAX6 FZD5
15 vitreoretinopathy 30.7 ZNF408 TSPAN12 NDP LRP5 FZD4
16 coats disease 30.6 ZNF408 TSPAN12 NDP LRP5 FZD4
17 morgagni cataract 30.6 CRYGS CRYAA
18 osteoporosis-pseudoglioma syndrome 30.6 NDP LRP5 FZD4
19 deprivation amblyopia 30.6 CRYGS CRYAA
20 megalocornea 30.6 PITX2 FOXC1 CRYAA
21 coloboma, ocular, autosomal dominant 30.6 PAX6 FZD5
22 exudative vitreoretinopathy 1 30.6 ZNF408 TSPAN12 PAX6 NDP LRP5 FZD4
23 open-angle glaucoma 30.5 FOXC1 CRYAA ATOH7
24 peripheral retinal degeneration 30.5 ZNF408 TSPAN12
25 sclerocornea 30.5 PITX2 PAX6 FOXC1 CRYAA
26 retinal vascular disease 30.4 ZNF408 TSPAN12 NDP FZD4 CRYAA
27 coloboma of macula 30.4 PITX2 PAX6 FZD5 FOXC1 CRYBB1 CRYAA
28 norrie disease 30.4 ZNF408 ZFPM1 WNT7B TSPAN12 NDP-AS1 NDP
29 axenfeld-rieger syndrome 30.3 PRDM5 PITX2 PAX6 FOXC1 CRYGS CRYAA
30 anterior segment dysgenesis 30.2 PITX2 PAX6 FOXC1 CRYBB1 CRYAA ATOH7
31 eye disease 30.1 TSPAN12 PITX2 PAX6 NDP LRP5 FZD4
32 exudative vitreoretinopathy 30.0 ZNF408 ZFPM1 WNT7B TSPAN12 NDP LRP5
33 persistent hyperplastic primary vitreous, autosomal dominant 11.8
34 oculopalatocerebral syndrome 11.4
35 diencephalic-mesencephalic junction dysplasia 11.4
36 microphthalmia 10.8
37 retinoblastoma 10.7
38 uveitis 10.4
39 primary angle-closure glaucoma 10.4
40 isolated aniridia 10.4 PAX6 FOXC1
41 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 10.4 PITX2 FOXC1
42 coloboma of eyelid 10.4 PAX6 FZD5
43 coloboma of eye lens 10.4 PAX6 FZD5
44 congenital aphakia 10.4 PAX6 CRYAA
45 cataract 32, multiple types 10.3 CRYBA1 CRYAA
46 vitreoretinal degeneration 10.3 TSPAN12 LRP5
47 coloboma of iris 10.3 PAX6 FZD5
48 exudative vitreoretinopathy 2, x-linked 10.3 NDP-AS1 NDP
49 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
50 muscular dystrophy-dystroglycanopathy , type a, 1 10.3

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

Human phenotypes related to Persistent Hyperplastic Primary Vitreous:

58 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007957
2 microphthalmia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000568
3 leukocoria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000555
4 persistent pupillary membrane 58 30 Frequent (33%) Frequent (79-30%)
HP:0009917
5 developmental cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000519
6 tractional retinal detachment 58 30 Frequent (33%) Frequent (79-30%)
HP:0007917
7 angle closure glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0012109
8 glial remnants anterior to the optic disc 58 30 Frequent (33%) Frequent (79-30%)
HP:0030743
9 hyaloid vascular remnant and retrolental mass 58 30 Frequent (33%) Frequent (79-30%)
HP:0030744
10 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
11 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
12 buphthalmos 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000557
13 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
14 microcornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000482
15 phthisis bulbi 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000667
16 macular hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001104
17 epiphora 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009926
18 retinal fold 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008052
19 shallow anterior chamber 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000594
20 hemorrhage of the eye 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011885
21 ectopic calcification 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010766
22 cataract 58 Very frequent (99-80%)
23 reduced visual acuity 58 Very frequent (99-80%)
24 remnants of the hyaloid vascular system 58 Obligate (100%)

MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.22 ATOH7 CDKN2A CRYBA1 EFNA5 FOXC1 FZD4
2 cellular MP:0005384 10.07 ATOH7 CDKN2A CRYAA CRYBA1 EFNA5 FOXC1
3 pigmentation MP:0001186 10.03 CDKN2A CRYBA1 FOXC1 FZD4 LRP5 NDP
4 endocrine/exocrine gland MP:0005379 10.02 CDKN2A EFNA5 FOXC1 FZD4 FZD5 LRP5
5 embryo MP:0005380 10.02 CDKN2A EFNA5 FOXC1 FZD4 FZD5 LRP5
6 cardiovascular system MP:0005385 10 ATOH7 CDKN2A CRYBA1 EFNA5 FOXC1 FZD4
7 reproductive system MP:0005389 9.65 ATOH7 CDKN2A EFNA5 FOXC1 FZD4 FZD5
8 vision/eye MP:0005391 9.5 ATOH7 CDKN2A CRYAA CRYBA1 CRYGS FOXC1

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Surgical Treatment and Prognosis of Congenital Cataract With Persistent Fetal Vasculature Unknown status 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

Organs/tissues related to Persistent Hyperplastic Primary Vitreous:

MalaCards : Eye, Retina, Brain, Pituitary, Thyroid, Heart, Skin

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 488)
# Title Authors PMID Year
1
Provider beliefs in effectiveness and recommendations for primary HPV testing in three healthcare systems. 62
36469348 2022
2
Detection of potential functional variants based on systems-biology: the case of feed efficiency in beef cattle. 62
36434498 2022
3
Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations. 62
33977792 2022
4
A Survey on Computational Methods for Investigation on ncRNA-Disease Association through the Mode of Action Perspective. 62
36232792 2022
5
Dynamics of the cerebral autoregulatory response to paced hyperventilation assessed using subcomponent and time-varying analyses. 62
35736950 2022
6
DeepIDA: Predicting Isoform-Disease Associations by Data Fusion and Deep Neural Networks. 62
33571094 2022
7
Case report: tuberous sclerosis and persistent hyperplastic primary vitreous. 62
35842607 2022
8
Surgical outcomes of posterior persistent fetal vasculature syndrome: cases with tent-shaped and closed funnel-shaped retinal detachment. 62
35739244 2022
9
Exploring noncoding RNAs in thyroid cancer using a graph convolutional network approach. 62
35430557 2022
10
Pharmacophore-Oriented Discovery of Novel 1,2,3-Benzotriazine-4-one Derivatives as Potent 4-Hydroxyphenylpyruvate Dioxygenase Inhibitors. 62
35618678 2022
11
Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome. 62
35417292 2022
12
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome. 62
35221879 2022
13
RNALocate v2.0: an updated resource for RNA subcellular localization with increased coverage and annotation. 62
34551440 2022
14
NCP-BiRW: A Hybrid Approach for Predicting Long Noncoding RNA-Disease Associations by Network Consistency Projection and Bi-Random Walk. 62
35495166 2022
15
Prenatal Ultrasound Diagnosis of Persistent Hyperplastic Primary Vitreous with Retinoblastoma. 62
36126641 2022
16
Etiology of white pupillary reflex in pediatric age group. 62
35531443 2022
17
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review. 62
35027145 2022
18
Posterior fossa volume in idiopathic intracranial hypertension: a magnetic resonance imaging-based study. 62
34904452 2021
19
A case of anterior persistent hyperplastic primary vitreous associated with morning glory disc anomaly and retinopathy of prematurity like retinopathy in a term-born child. 62
34963467 2021
20
Exploring associations of non-coding RNAs in human diseases via three-matrix factorization with hypergraph-regular terms on center kernel alignment. 62
33443536 2021
21
A comprehensive survey on computational methods of non-coding RNA and disease association prediction. 62
33341893 2021
22
The Clinical Value of Measuring Circulating HPV DNA during Chemo-Radiotherapy in Squamous Cell Carcinoma of the Anus. 62
34070045 2021
23
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vĂ­treous: a case report and literature review. 62
33563475 2021
24
Bilateral Persistent Hyperplastic Primary Vitreous: A Case Report and Review of the Literature. 62
33728125 2021
25
Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis. 62
34485332 2021
26
MNDR v3.0: mammal ncRNA-disease repository with increased coverage and annotation. 62
32833025 2021
27
Changes in Intraocular Pressure and Anterior Chamber Angle After Congenital Cataract Extraction. 62
32969922 2021
28
Fragment-based discovery of flexible inhibitor targeting wild-type acetohydroxyacid synthase and P197L mutant. 62
31943722 2020
29
The Atoh7 remote enhancer provides transcriptional robustness during retinal ganglion cell development. 62
32817515 2020
30
ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs. 62
32122231 2020
31
Global precedence changes by environment: A systematic review and meta-analysis on effect of perceptual field variables on global-local visual processing. 62
32189234 2020
32
Atypical anterior persistent hyperplastic primary vitreous: report of a rare case. 62
32677902 2020
33
Polyhydroxyphenylvalerate/polycaprolactone nanofibers improve the life-span and mechanoresponse of human IPSC-derived cortical neuronal cells. 62
32279802 2020
34
Plantar forces mid-term after hemiarthroplasty with HemiCAP for hallux rigidus. 62
31153732 2020
35
Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease. 62
31462148 2020
36
Viscodelamination of Localized Retrolental Plaques During Lens-Sparing Vitrectomy in Eyes With Pediatric Tractional Vitreoretinopathy. 62
32516225 2020
37
A rare case of binocular persistent hyperplastic primary vitreous (PHPV) in a pregnant woman during two consecutive pregnancies. 62
31960951 2020
38
Femtosecond laser-assisted anterior and posterior capsulotomies in children with persistent hyperplastic primary vitreous. 62
32271292 2020
39
Oculo-skeletal dysplasia in five Labrador Retrievers. 62
31595625 2020
40
Prediction of new associations between ncRNAs and diseases exploiting multi-type hierarchical clustering. 62
32093606 2020
41
Plasma renin activity and aldosterone concentration in dogs with acquired portosystemic collaterals. 62
31729111 2020
42
Nc2Eye: A Curated ncRNAomics Knowledgebase for Bridging Basic and Clinical Research in Eye Diseases. 62
32117995 2020
43
Diagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights. 62
33335385 2020
44
Bilateral primary hyperplastic persistent vitreous: report of two cases. 62
33214982 2020
45
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. 62
31696227 2020
46
Neogenin-loss in neural crest cells results in persistent hyperplastic primary vitreous formation. 62
31336386 2020
47
Regression of fetal vasculature and visual improvement in nonsurgical persistent hyperplastic primary vitreous: a case report. 62
31349817 2019
48
Spontaneous Stalk Regression in Persistent Fetal Vasculature Syndrome. 62
31021383 2019
49
Myelinated retinal nerve fibers and persistent hyperplastic primary vitreous. 62
31124528 2019
50
Assessment and Characterization of Hyaloid Vessels in Mice. 62
31157789 2019

Variations for Persistent Hyperplastic Primary Vitreous

ClinVar genetic disease variations for Persistent Hyperplastic Primary Vitreous:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDP-AS1, NDP NM_000266.4(NDP):c.314C>T (p.Ala105Val) SNV Likely Pathogenic
374014 rs1057518836 GRCh37: X:43809133-43809133
GRCh38: X:43949887-43949887

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

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 positive regulation of transcription by RNA polymerase II GO:0045944 10.39 ATOH7 CDKN2A FOXC1 FZD5 LRP5 PAX6
2 visual perception GO:0007601 10.1 PAX6 NDP CRYGS CRYBB1 CRYBA1 CRYAA
3 neuron differentiation GO:0030182 10.06 ATOH7 FZD4 FZD5 PAX6 WNT7B
4 canonical Wnt signaling pathway GO:0060070 10.03 WNT7B LRP5 FZD5 FZD4
5 Wnt signaling pathway GO:0016055 9.97 WNT7B NDP LRP5 FZD5 FZD4
6 camera-type eye development GO:0043010 9.93 PITX2 PAX6 FOXC1
7 iris morphogenesis GO:0061072 9.85 PITX2 PAX6
8 blood vessel development GO:0001568 9.83 PAX6 FZD4 FOXC1
9 lacrimal gland development GO:0032808 9.81 PAX6 FOXC1
10 positive regulation of core promoter binding GO:1904798 9.8 PAX6 FOXC1
11 retinal blood vessel morphogenesis GO:0061304 9.78 LRP5 FZD4
12 retina vasculature morphogenesis in camera-type eye GO:0061299 9.65 FZD4 LRP5 NDP
13 extracellular matrix-cell signaling GO:0035426 9.63 NDP LRP5 FZD4
14 system development GO:0048731 9.56 ZFPM1 WNT7B
15 Norrin signaling pathway GO:0110135 9.43 NDP LRP5 FZD4
16 lens development in camera-type eye GO:0002088 9.32 PAX6 CRYGS CRYBB1 CRYBA1 CRYAA

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

# Name GO ID Score Top Affiliating Genes
1 transcription cis-regulatory region binding GO:0000976 9.96 PRDM5 PITX2 PAX6 FOXC1 ATOH7
2 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.87 ZFPM1 PITX2 FOXC1 CDKN2A
3 Wnt-protein binding GO:0017147 9.63 LRP5 FZD5 FZD4
4 structural constituent of eye lens GO:0005212 9.56 CRYGS CRYBB1 CRYBA1 CRYAA
5 Wnt receptor activity GO:0042813 9.17 TSPAN12 LRP5 FZD5 FZD4

Sources for Persistent Hyperplastic Primary Vitreous

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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