PFVS
MCID: PRS062
MIFTS: 48

Persistent Hyperplastic Primary Vitreous (PFVS)

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 12 58 36 29 6 44 15
Non-Syndromic Congenital Retinal Non-Attachment 58
Persistent Fetal Vasculature Syndrome 58
Congenital Retinal Detachment 58
Ncrna Disease 58
Pfvs 58
Phpv 58

Characteristics:

Orphanet epidemiological data:

58
persistent hyperplastic primary vitreous
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060282
KEGG 36 H02112
MeSH 44 D054514
NCIt 50 C161554
SNOMED-CT 67 69927002
MESH via Orphanet 45 D054514
ICD10 via Orphanet 33 Q14.0
UMLS via Orphanet 71 C0266568 C1857299
Orphanet 58 ORPHA91495
UMLS 70 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

KEGG : 36 Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.

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 Pathways in cancer and Gastric cancer. Affiliated tissues include eye, retina and bone, and related phenotypes are cardiovascular system and cellular

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.

Wikipedia : 73 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 155)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 33.5 TSPAN12 NDP-AS1 NDP ATOH7
2 leukocoria 31.3 ZNF408 TSPAN12 NDP LRP5 FZD4 ATOH7
3 cataract 31.3 TGFB2 PITX2 PAX6 OTX2 FOXC1 ATOH7
4 retinal detachment 31.0 ZNF408 TSPAN12 TGFB2 PAX6 NDP-AS1 NDP
5 microphthalmia 31.0 WNT7B SKI PITX2 PAX6 OTX2 NDP
6 pathologic nystagmus 30.9 PAX6 OTX2 NDP-AS1 NDP
7 intraocular pressure quantitative trait locus 30.8 TGFB2 PITX2 PAX6 FOXC1
8 eye disease 30.8 TGFB2 PITX2 PAX6 NDP FOXC1 CDKN2A
9 axenfeld-rieger syndrome 30.6 PITX2 PAX6 FOXC1
10 osteoporosis-pseudoglioma syndrome 30.6 NDP LRP5 FZD4
11 norrie disease 30.6 ZNF408 WNT7B TSPAN12 NDP-AS1 NDP LRP5
12 vitreoretinopathy 30.6 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
13 coats disease 30.6 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
14 exudative vitreoretinopathy 1 30.6 ZNF408 WNT7B TSPAN12 NDP LRP5 FZD4
15 coloboma of macula 30.5 PITX2 PAX6 OTX2 FZD5 FOXC1 ATOH7
16 retinal vascular disease 30.5 ZNF408 TSPAN12 NDP LRP5 FZD4
17 anterior segment dysgenesis 30.5 PITX2 PAX6 OTX2 FOXC1
18 exudative vitreoretinopathy 30.3 ZNF408 WNT7B TSPAN12 NDP-AS1 NDP LRP5
19 persistent hyperplastic primary vitreous, autosomal dominant 11.8
20 oculopalatocerebral syndrome 11.4
21 retinoblastoma 10.7
22 suppression amblyopia 10.7
23 amblyopia 10.7
24 uveitis 10.4
25 strabismus 10.4
26 yemenite deaf-blind hypopigmentation syndrome 10.4
27 mechanical strabismus 10.4
28 coloboma of eyelid 10.4 PAX6 FZD5
29 retinal telangiectasia 10.4 TSPAN12 NDP FZD4
30 coloboma of eye lens 10.4 PAX6 FZD5
31 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
32 acquired color blindness 10.3 PITX2 PAX6 FOXC1
33 hydrophthalmos 10.3 PITX2 PAX6 FOXC1
34 microphthalmia, syndromic 8 10.3 PAX6 OTX2
35 axenfeld-rieger syndrome, type 1 10.3 PITX2 PAX6 FOXC1
36 peters-plus syndrome 10.3
37 aicardi syndrome 10.3
38 posterior polar cataract 10.3
39 chromosomal triplication 10.3
40 fryns microphthalmia syndrome 10.3 PAX6 OTX2
41 intestinal atresia 10.3 PITX2 PAX6 FOXC1
42 gillespie syndrome 10.3 PITX2 PAX6 FOXC1
43 anterior segment dysgenesis 1 10.3 PITX2 PAX6 FOXC1
44 exudative vitreoretinopathy 3 10.3 TSPAN12 NDP LRP5 FZD4
45 exudative vitreoretinopathy 4 10.3 TSPAN12 NDP LRP5 FZD4
46 juvenile glaucoma 10.3 PITX2 PAX6 FOXC1
47 primary congenital glaucoma 10.3 PITX2 PAX6 FOXC1
48 microphthalmia, isolated 3 10.3 PAX6 OTX2
49 exudative vitreoretinopathy 2, x-linked 10.3 NDP-AS1 NDP LRP5 FZD4
50 optic nerve hypoplasia, bilateral 10.3 PAX6 OTX2 ATOH7

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 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ATOH7 CDKN2A FOXC1 FZD4 FZD5 LRP5
2 cellular MP:0005384 10.34 ATOH7 CDKN2A EFNA5 FOXC1 FZD4 FZD5
3 behavior/neurological MP:0005386 10.33 ATOH7 CDKN2A EFNA5 FZD4 FZD5 LRP5
4 embryo MP:0005380 10.26 CDKN2A EFNA5 FOXC1 FZD4 FZD5 LRP5
5 nervous system MP:0003631 10.21 ATOH7 CDKN2A EFNA5 FOXC1 FZD4 FZD5
6 endocrine/exocrine gland MP:0005379 10.16 CDKN2A EFNA5 FOXC1 FZD4 FZD5 LRP5
7 digestive/alimentary MP:0005381 10.15 CDKN2A EFNA5 FOXC1 FZD4 FZD5 OTX2
8 craniofacial MP:0005382 10.11 EFNA5 FOXC1 LRP5 OTX2 PAX6 PITX2
9 reproductive system MP:0005389 10.03 ATOH7 CDKN2A EFNA5 FOXC1 FZD4 FZD5
10 muscle MP:0005369 10.01 CDKN2A FOXC1 FZD4 OTX2 PAX6 PITX2
11 pigmentation MP:0001186 9.92 CDKN2A FOXC1 FZD4 LRP5 NDP OTX2
12 hearing/vestibular/ear MP:0005377 9.91 FZD4 NDP OTX2 PAX6 TGFB2 TSPAN12
13 respiratory system MP:0005388 9.7 CDKN2A FOXC1 OTX2 PAX6 PITX2 TGFB2
14 skeleton MP:0005390 9.65 CDKN2A FOXC1 LRP5 NDP OTX2 PAX6
15 vision/eye MP:0005391 9.47 ATOH7 CDKN2A FOXC1 FZD4 FZD5 LRP5

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
2 Assessing Force-velocity Profile: an Innovative Approach to Optimize Cardiac Rehabilitation in Coronary Patients Recruiting NCT04102410

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:

40
Eye, Retina, Bone, Pituitary, Heart, Tongue, Brain

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 405)
# Title Authors PMID Year
1
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 61 6
22645276 2012
2
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. 61 6
11527934 2001
3
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 6
22068589 2012
4
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. 6
21474777 2011
5
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 6
21441919 2011
6
High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population. 6
9677055 1998
7
Bilateral Persistent Hyperplastic Primary Vitreous: A Case Report and Review of the Literature. 61
33728125 2021
8
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review. 61
33563475 2021
9
Changes in Intraocular Pressure and Anterior Chamber Angle After Congenital Cataract Extraction. 61
32969922 2021
10
Atypical anterior persistent hyperplastic primary vitreous: report of a rare case. 61
32677902 2020
11
Polyhydroxyphenylvalerate/polycaprolactone nanofibers improve the life-span and mechanoresponse of human IPSC-derived cortical neuronal cells. 61
32279802 2020
12
Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease. 61
31462148 2020
13
A rare case of binocular persistent hyperplastic primary vitreous (PHPV) in a pregnant woman during two consecutive pregnancies. 61
31960951 2020
14
Femtosecond laser-assisted anterior and posterior capsulotomies in children with persistent hyperplastic primary vitreous. 61
32271292 2020
15
Oculo-skeletal dysplasia in five Labrador Retrievers. 61
31595625 2020
16
Bilateral primary hyperplastic persistent vitreous: report of two cases. 61
33214982 2020
17
Plasma renin activity and aldosterone concentration in dogs with acquired portosystemic collaterals. 61
31729111 2020
18
Neogenin-loss in neural crest cells results in persistent hyperplastic primary vitreous formation. 61
31336386 2020
19
Diagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights. 61
33335385 2020
20
Regression of fetal vasculature and visual improvement in nonsurgical persistent hyperplastic primary vitreous: a case report. 61
31349817 2019
21
Myelinated retinal nerve fibers and persistent hyperplastic primary vitreous. 61
31124528 2019
22
Assessment and Characterization of Hyaloid Vessels in Mice. 61
31157789 2019
23
In vivo detecting mouse persistent hyperplastic primary vitreous by Spectralis Optical Coherence Tomography. 61
30817926 2019
24
Persistent hyperplastic primary vitreous in two piglets. 61
30643102 2019
25
The analysis of posterior segment findings in term and premature infants using RetCam images. 61
28780616 2018
26
[Bilateral posterior persistent hyperplastic primary vitreous]. 61
29079879 2018
27
Multiple acquired portosystemic shunts secondary to primary hypoplasia of the portal vein in a cat. 61
29628453 2018
28
VITRECTOMY FOR PHACOANAPHYLACTIC GLAUCOMA SECONDARY TO POSTERIOR CAPSULAR RUPTURE IN AN ADULT WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS. 61
29554053 2018
29
Prenatal diagnosis of bilateral persistent hyperplastic primary vitreous: A case report. 61
29673626 2018
30
Morning glory syndrome with Moyamoya disease: A rare association with role of imaging. 61
30050238 2018
31
Prenatal Ultrasonographic Diagnosis of Cataract: In Utero Manifestations of Cryptic Disease. 61
28002851 2018
32
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous. 61
28967071 2018
33
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. 61
28008699 2018
34
Osseous and Adipocytic Differentiations in the Intraocular Lens and Vitreous. 61
29191662 2018
35
Persistent hyperplastic primary vitreous (PHPV). 61
29031676 2017
36
[Rare causes of childhood leukocoria]. 61
28893456 2017
37
Portal Vein/Aorta Ratio in Dogs with Acquired Portosystemic Collaterals. 61
28804949 2017
38
Bilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report. 61
29207745 2017
39
[Ultrasound Manifestations of Eyes of Pediatric Patients with Morning Glory Syndrome]. 61
28752984 2017
40
Clinical Features of Congenital and Developmental Cataract in East China: A Five-year Retrospective Review. 61
28652574 2017
41
Washout Ratio in the Hepatic Vein Measured by Contrast-Enhanced Ultrasonography to Distinguish Between Inflammatory and Noninflammatory Hepatic Disorders in Dogs. 61
28382699 2017
42
Accuracy of self-collected human papillomavirus samples from Japanese women with abnormal cervical cytology. 61
28418208 2017
43
Intra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a Diagnostic Dilemma. 61
28559724 2017
44
The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period. 61
27073021 2017
45
Prevalence and geographical distribution of Papio hamadryas papillomavirus 1 (PhPV1) in Kenyan baboons. 61
27726166 2017
46
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. 61
28154792 2017
47
Clinicopathological Findings and Prognosis in Canine Cases Diagnosed As Primary Hypoplasia of the Portal Vein. 61
29312965 2017
48
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. 61
28393030 2017
49
Early Postnatal Hyperoxia in Mice Leads to Severe Persistent Vitreoretinopathy. 61
27918825 2016
50
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. 61
27896282 2016

Variations for Persistent Hyperplastic Primary Vitreous

ClinVar genetic disease variations for Persistent Hyperplastic Primary Vitreous:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATOH7 NC_000010.11:g.68247363_68253885del Deletion Pathogenic 30807 GRCh37: 10:70007125-70013647
GRCh38: 10:68247363-68253885
2 ATOH7 NM_145178.4(ATOH7):c.146A>T (p.Glu49Val) SNV Pathogenic 144065 rs587777664 GRCh37: 10:69991289-69991289
GRCh38: 10:68231532-68231532
3 ATOH7 NM_145178.4(ATOH7):c.136A>C (p.Asn46His) SNV Pathogenic 144067 rs587777666 GRCh37: 10:69991299-69991299
GRCh38: 10:68231542-68231542
4 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Pathogenic 236067 rs878853243 GRCh37: 7:120446673-120446673
GRCh38: 7:120806619-120806619
5 ATOH7 NM_145178.4(ATOH7):c.144_145dup (p.Glu49fs) Microsatellite Pathogenic 941421 GRCh37: 10:69991289-69991290
GRCh38: 10:68231532-68231533
6 ATOH7 NM_145178.4(ATOH7):c.53del (p.Pro18fs) Deletion Pathogenic 144066 rs587777665 GRCh37: 10:69991382-69991382
GRCh38: 10:68231625-68231625
7 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

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.57 WNT7B TGFB2 LRP5 FZD5 FZD4 CDKN2A
2
Show member pathways
12.4 WNT7B TGFB2 LRP5 FZD5 FZD4 CDKN2A
3
Show member pathways
12.31 WNT7B LRP5 FZD5 FZD4
4
Show member pathways
12.26 WNT7B TGFB2 FZD5 FZD4
5 12.22 WNT7B LRP5 FZD5 FZD4
6 12.11 WNT7B TGFB2 FZD5 FZD4
7
Show member pathways
12.03 WNT7B LRP5 FZD5 FZD4
8 11.98 WNT7B LRP5 FZD5 FZD4
9 11.93 WNT7B TGFB2 FZD5 FZD4
10
Show member pathways
11.91 PITX2 PAX6 OTX2 FZD5 FZD4 FOXC1
11 11.86 WNT7B PAX6 FZD5 FZD4
12 11.77 FZD5 FZD4 CDKN2A
13 11.77 WNT7B TGFB2 LRP5 FZD5 FZD4
14
Show member pathways
10.99 LRP5 FZD5 FZD4
15
Show member pathways
10.9 OTX2 CDKN2A
16 10.37 WNT7B LRP5 FZD5 FZD4

GO Terms for Persistent Hyperplastic Primary Vitreous

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 SKI PITX2 PAX6 OTX2 LRP5 FZD5
2 positive regulation of transcription, DNA-templated GO:0045893 10 PAX6 OTX2 NDP LRP5 FZD4 FOXC1
3 negative regulation of cell proliferation GO:0008285 9.97 TGFB2 SKI PAX6 FZD5 CDKN2A
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.79 NDP LRP5 FZD4
5 neuron differentiation GO:0030182 9.77 WNT7B FZD5 FZD4 COPS2 ATOH7
6 canonical Wnt signaling pathway GO:0060070 9.71 WNT7B LRP5 FZD5 FZD4
7 blood vessel development GO:0001568 9.7 PAX6 FZD4 FOXC1
8 eye development GO:0001654 9.67 TGFB2 PAX6 FOXC1
9 Wnt signaling pathway GO:0016055 9.63 WNT7B TSPAN12 NDP LRP5 FZD5 FZD4
10 camera-type eye development GO:0043010 9.62 SKI PITX2 PAX6 FOXC1
11 neural retina development GO:0003407 9.61 TGFB2 ATOH7
12 regulation of insulin secretion involved in cellular response to glucose stimulus GO:0061178 9.61 SYBU LRP5 EFNA5
13 embryonic camera-type eye morphogenesis GO:0048596 9.6 PAX6 FZD5
14 cardiac muscle cell proliferation GO:0060038 9.59 TGFB2 FOXC1
15 iris morphogenesis GO:0061072 9.58 PITX2 PAX6
16 somatic stem cell division GO:0048103 9.58 TGFB2 CDKN2A
17 salivary gland morphogenesis GO:0007435 9.56 TGFB2 PAX6
18 positive regulation of core promoter binding GO:1904798 9.55 PAX6 FOXC1
19 lacrimal gland development GO:0032808 9.54 PAX6 FOXC1
20 retinal blood vessel morphogenesis GO:0061304 9.51 LRP5 FZD4
21 retina vasculature morphogenesis in camera-type eye GO:0061299 9.43 NDP LRP5 FZD4
22 multicellular organism development GO:0007275 9.32 WNT7B PITX2 PAX6 OTX2 LRP5 FZD5
23 extracellular matrix-cell signaling GO:0035426 9.13 NDP LRP5 FZD4

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 ZNF408 WNT7B TSPAN12 TGFB2 SYBU SKI
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 ZNF408 SKI PITX2 PAX6 OTX2 FOXC1
3 transcription factor binding GO:0008134 9.73 PITX2 PAX6 FOXC1 CDKN2A
4 ubiquitin protein ligase binding GO:0031625 9.71 SKI PAX6 FZD5 FZD4
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 ZNF408 SKI PITX2 PAX6 OTX2 FOXC1
6 amyloid-beta binding GO:0001540 9.5 TGFB2 FZD5 FZD4
7 Wnt-protein binding GO:0017147 9.13 LRP5 FZD5 FZD4
8 Wnt-activated receptor activity GO:0042813 8.92 TSPAN12 LRP5 FZD5 FZD4

Sources for Persistent Hyperplastic Primary Vitreous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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