PHPVAR
MCID: PRS122
MIFTS: 39

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (PHPVAR)

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

MalaCards integrated aliases for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

Name: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 57 72 29 6 70
Persistent Fetal Vasculature 57 72 6
Retinal Nonattachment, Nonsyndromic Congenital 57 13
Phpvar 57 72
Rnanc 57 72
Vitreous, Primary, Hyperplastic, Persistent, Autosomal Recessive 39
Retinal Nonattachment, Nonsyndromic Congenital; Rnanc; Ncrna 57
Congenital Non-Syndromic Retinal Non-Attachment 72
Retinal Non-Attachment and Falciform Detachment 72
Retinal Nonattachment and Falciform Detachment 57
Retinal Detachment Congenital 72
Ncrna 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
persistent hyperplastic primary vitreous, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

OMIM® : 57 Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012). PHPV shares phenotypic overlap with Norrie disease (310600). (221900) (Updated 20-May-2021)

MalaCards based summary : Persistent Hyperplastic Primary Vitreous, Autosomal Recessive, also known as persistent fetal vasculature, is related to persistent hyperplastic primary vitreous and retinal detachment. An important gene associated with Persistent Hyperplastic Primary Vitreous, Autosomal Recessive is ATOH7 (Atonal BHLH Transcription Factor 7). Affiliated tissues include eye, lung and bone, and related phenotypes are iris coloboma and uveitis

UniProtKB/Swiss-Prot : 72 Persistent hyperplastic primary vitreous, autosomal recessive: A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment.

Related Diseases for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous 31.3 TSPAN12 NDP-AS1 NDP ATOH7
2 retinal detachment 29.8 TSPAN12 NDP-AS1 NDP ATOH7
3 leukocoria 29.8 TSPAN12 NDP ATOH7
4 vitreoretinopathy 29.7 TSPAN12 NDP-AS1 NDP
5 retinal vascular disease 29.7 TSPAN12 NDP
6 pathologic nystagmus 29.7 NDP-AS1 NDP
7 norrie disease 29.4 TSPAN12 NDP-AS1 NDP
8 exudative vitreoretinopathy 29.3 TSPAN12 NDP-AS1 NDP ATOH7
9 coats disease 29.1 TSPAN12 NDP-AS1 NDP
10 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 11.8
11 alazami syndrome 11.0
12 cataract 10.6
13 microphthalmia 10.5
14 coloboma of macula 10.5
15 strabismus 10.5
16 mechanical strabismus 10.5
17 suppression amblyopia 10.4
18 amblyopia 10.4
19 retinoblastoma 10.4
20 yemenite deaf-blind hypopigmentation syndrome 10.2
21 lens subluxation 10.2
22 alternating exotropia 10.2
23 exotropia 10.2
24 lymphangioma 10.2
25 orbital lymphangioma 10.2
26 rare lymphatic malformation 10.2
27 osteoporosis 10.1
28 osteoporosis-pseudoglioma syndrome 10.1
29 phace association 10.1
30 bone mineral density quantitative trait locus 8 10.1
31 bone mineral density quantitative trait locus 15 10.1
32 ptosis 10.1
33 myopia 10.1
34 neovascular glaucoma 10.1
35 hemangioma 10.1
36 weber syndrome 10.1
37 neuroblastoma 10.1
38 breast cancer 10.0
39 blepharophimosis, ptosis, and epicanthus inversus 10.0
40 coloboma of optic nerve 10.0
41 epicanthus 10.0
42 klippel-trenaunay-weber syndrome 10.0
43 optic nerve hypoplasia, bilateral 10.0
44 septooptic dysplasia 10.0
45 telecanthus 10.0
46 varicose veins 10.0
47 gastroschisis 10.0
48 peters-plus syndrome 10.0
49 retinitis pigmentosa 10.0
50 tubulin, beta 10.0

Graphical network of the top 20 diseases related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:



Diseases related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Symptoms & Phenotypes for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Human phenotypes related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 iris coloboma 31 occasional (7.5%) HP:0000612
2 uveitis 31 occasional (7.5%) HP:0000554
3 cataract 31 HP:0000518
4 corneal opacity 31 HP:0007957
5 microphthalmia 31 HP:0000568
6 buphthalmos 31 HP:0000557
7 leukocoria 31 HP:0000555
8 hyphema 31 HP:0011886
9 remnants of the hyaloid vascular system 31 HP:0007968
10 microcornea 31 HP:0000482
11 phthisis bulbi 31 HP:0000667
12 retinal nonattachment 31 HP:0007899
13 persistent pupillary membrane 31 HP:0009917
14 esotropia 31 HP:0000565
15 pendular nystagmus 31 HP:0012043
16 posterior synechiae of the anterior chamber 31 HP:0011484
17 retinal fold 31 HP:0008052
18 shallow anterior chamber 31 HP:0000594

Clinical features from OMIM®:

221900 (Updated 20-May-2021)

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

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 Exosomes-derived ncRNAs As Biomarkers In Cholangiocarcinoma Patients Unknown status NCT03102268

Search NIH Clinical Center for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Genetic Tests for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Genetic tests related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 29 ATOH7

Anatomical Context for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

40
Eye, Lung, Bone, Retina, Heart, Breast, Prostate

Publications for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Articles related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

(show top 50) (show all 244)
# Title Authors PMID Year
1
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 6 57 61
22068589 2012
2
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 57 6
22645276 2012
3
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. 6 57
21474777 2011
4
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 57 6
21441919 2011
5
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. 57 6
11527934 2001
6
High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population. 6 57
9677055 1998
7
Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment. 57
10817658 2000
8
Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. 57
10607958 2000
9
Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous. 57
9514496 1998
10
Novel approaches to linkage mapping. 57
7549428 1995
11
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 57
2884728 1987
12
Congenital hereditary bilateral nonattachment of retina: a sibship of two males. 57
521877 1979
13
Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. 57
100893 1978
14
Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling. 57
950240 1976
15
Persistent hyperplastic primary vitreous in non-identical twins. 57
4800974 1973
16
Congenital hereditary bilateral non-attachment of retina. A sibship of two. 57
4800973 1973
17
[Falciform retinal detachment in a brother and sister]. 57
5855778 1965
18
ABLATIO FALCIFORMIS CONGENITA (RETINAL FOLD). 57
18169555 1938
19
Widefield Fluorescein Angiography in the Fellow Eyes of Patients with Presumed Unilateral Persistent Fetal Vasculature. 61
32721591 2021
20
Diagnostic accuracy of Quantitative Colour Doppler Flow imaging in distinguishing Persistent Fetal Vasculature from Retinal Detachment. 61
33629492 2021
21
Worsening of Retinal Detachment after Cataract Surgery in the Eye with Persistent Fetal Vasculature. 61
33688352 2021
22
Laminaria-like Vitreoschisis in Persistent Fetal Vasculature. 61
33413796 2021
23
Surgical outcomes of cataract surgery in anterior and combined persistent fetal vasculature using a novel surgical technique: a single center, prospective study. 61
32803327 2021
24
Intraocular lens implantation in combination with lensectomy and vitrectomy for persistent fetal vasculature. 61
32780257 2020
25
Spontaneous Lens Rupture in Congenital Cataract, Presented as Lens Fragment Within the Anterior Chamber. 61
33391932 2020
26
MR Imaging Features to Differentiate Retinoblastoma from Coats' Disease and Persistent Fetal Vasculature. 61
33266342 2020
27
Hyphema as First Manifestation of Persistent Fetal Vasculature in an Adult. 61
33097111 2020
28
The Outcome of Manual Small Incision Cataract Surgery and Anterior Vitrectomy for Persistent Fetal Vasculature in an 18-Year-Old Woman: A One-Year Follow-Up. 61
33123424 2020
29
Peripheral Vascular Abnormalities Detected by Fluorescein Angiography in Contralateral Eyes of Patients With Persistent Fetal Vasculature. 61
32955590 2020
30
Clinical Characteristics and Treatment of Secondary Glaucoma After Pediatric Congenital Cataract Surgery in a Tertiary Referral Hospital in Spain. 61
32956478 2020
31
Clinical and pathological characterization of persistent fetal vasculature associated with vitreous hemorrhage. 61
32490283 2020
32
Temporal iridofundal coloboma with persistent pupillary membranes with persistent fetal vasculature. 61
32709803 2020
33
Morning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography. 61
32674592 2020
34
Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease. 61
31462148 2020
35
Viscodelamination of Localized Retrolental Plaques During Lens-Sparing Vitrectomy in Eyes With Pediatric Tractional Vitreoretinopathy. 61
32516225 2020
36
Persistent Fetal Vasculature With Subluxated Lens, Posterior Segment Pathology, and Bifid Fibrous Membrane: An Atypical Presentation. 61
32579685 2020
37
ToRCH-screening in pediatric cataract revisited: A North Indian tertiary care centre study. 61
32317443 2020
38
[Retinoblastoma]. 61
32206913 2020
39
FLUORESCEIN ANGIOGRAPHY FINDINGS IN UNILATERAL PERSISTENT FETAL VASCULATURE. 61
30531421 2020
40
Visual prognosis of posterior and combined persistent fetal vasculature. 61
30712383 2020
41
[Timing of congenital cataract surgery : Amblyopia versus aphakic glaucoma]. 61
32076840 2020
42
Congenital corneal blood staining secondary to hemorrhagic persistent fetal vasculature. 61
31935453 2020
43
Bilateral Morning Glory Syndrome with Bilateral Persistent Fetal Vasculature in a Patient with Joubert's Syndrome. 61
32849877 2020
44
Diagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights. 61
33335385 2020
45
Clinical Characteristics and Surgical Safety in Congenital Cataract Eyes with Three Pathological Types of Posterior Capsule Abnormalities. 61
32280529 2020
46
Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature. 61
31978232 2020
47
Bilateral primary hyperplastic persistent vitreous: report of two cases. 61
33214982 2020
48
Persistent Retinal Detachment in Retinoblastoma: The Challenges. 61
33005444 2020
49
Long-term visual and anatomic outcomes following early surgery for persistent fetal vasculature: a single-center, 20-year review. 61
31629823 2019
50
Evaluation of collagen derived antiangiogenic factors and matrix metalloproteinases in anterior lens epithelial cells of pediatric eyes with persistent fetal vasculature. 61
31546493 2019

Variations for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

ClinVar genetic disease variations for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

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

UniProtKB/Swiss-Prot genetic disease variations for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 ATOH7 p.Asn46His VAR_072398 rs587777666
2 ATOH7 p.Glu49Val VAR_072400 rs587777664

Expression for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Search GEO for disease gene expression data for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive.

Pathways for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

GO Terms for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 8.62 TSPAN12 NDP

Sources for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

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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