PHPVAR
MCID: PRS122
MIFTS: 37

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (PHPVAR)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic 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 75 29 6 73
Retinal Nonattachment, Nonsyndromic Congenital 57 13
Persistent Fetal Vasculature 57 75
Phpvar 57 75
Rnanc 57 75
Vitreous, Primary, Hyperplastic, Persistent, Autosomal Recessive 40
Retinal Nonattachment, Nonsyndromic Congenital; Rnanc; Ncrna 57
Congenital Non-Syndromic Retinal Non-Attachment 75
Retinal Non-Attachment and Falciform Detachment 75
Retinal Nonattachment and Falciform Detachment 57
Retinal Detachment Congenital 75
Ncrna 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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)

MalaCards based summary : Persistent Hyperplastic Primary Vitreous, Autosomal Recessive, also known as retinal nonattachment, nonsyndromic congenital, 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 prostate, and related phenotypes are cataract and corneal opacity

UniProtKB/Swiss-Prot : 75 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 58)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous 32.9 ATOH7 TSPAN12
2 retinal detachment 29.8 ATOH7 TSPAN12
3 exudative vitreoretinopathy 29.6 ATOH7 TSPAN12
4 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.8
5 coloboma of macula 10.1
6 cataract 10.1
7 microphthalmia 10.1
8 lymphangioma 10.1
9 orbital lymphangioma 10.1
10 osteoporosis 10.0
11 retinoblastoma 10.0
12 osteoporosis-pseudoglioma syndrome 10.0
13 leukocoria 10.0
14 phace syndrome 10.0
15 weber syndrome 10.0
16 lung cancer 10.0
17 epicanthus 9.9
18 klippel-trenaunay-weber syndrome 9.9
19 septooptic dysplasia 9.9
20 gastroschisis 9.9
21 aicardi syndrome 9.9
22 norrie disease 9.9
23 holoprosencephaly 9.9
24 ptosis 9.9
25 blepharophimosis 9.9
26 aqueous misdirection 9.9
27 lens subluxation 9.9
28 dermoid cyst 9.9
29 teratoma 9.9
30 protein c deficiency 9.9
31 endophthalmitis 9.9
32 anterior segment dysgenesis 9.9
33 alzheimer disease 9.9
34 breast cancer 9.9
35 colorectal cancer 9.9
36 factor viii deficiency 9.9
37 huntington disease 9.9
38 prostate cancer 9.9
39 small cell cancer of the lung 9.9
40 neuroblastoma 9.9
41 isolated growth hormone deficiency, type ia 9.9
42 hemophilia a 9.9
43 malaria 9.9
44 lung cancer susceptibility 3 9.9
45 gastric cancer 9.9
46 alacrima, achalasia, and mental retardation syndrome 9.9
47 cholangiocarcinoma 9.9
48 crohn's disease 9.9
49 crohn's colitis 9.9
50 adenocarcinoma 9.9

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

Clinical features from OMIM:

221900

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 corneal opacity 32 HP:0007957
3 microphthalmia 32 HP:0000568
4 buphthalmos 32 HP:0000557
5 iris coloboma 32 occasional (7.5%) HP:0000612
6 microcornea 32 HP:0000482
7 phthisis bulbi 32 HP:0000667
8 uveitis 32 occasional (7.5%) HP:0000554
9 leukocoria 32 HP:0000555
10 retinal nonattachment 32 HP:0007899
11 esotropia 32 HP:0000565
12 persistent pupillary membrane 32 HP:0009917
13 hyphema 32 HP:0011886
14 pendular nystagmus 32 HP:0012043
15 shallow anterior chamber 32 HP:0000594
16 retinal fold 32 HP:0008052
17 remnants of the hyaloid vascular system 32 HP:0007968
18 posterior synechiae of the anterior chamber 32 HP:0011484

MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 ATOH7 TSPAN12

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Search Clinical Trials , 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:

41
Eye, Lung, Prostate

Publications for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Articles related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

(show all 37)
# Title Authors Year
1
Medical Management of Children With Congenital/Infantile Cataract Associated With Microphthalmia, Microcornea, or Persistent Fetal Vasculature. ( 30371912 )
2018
2
A rare case of orbital lymphangioma with persistent fetal vasculature and extraorbital vascular malformations treated with intralesional bleomycin. ( 30120984 )
2018
3
Optical coherence tomography findings of falciform retinal detachment complicated with persistent fetal vasculature. ( 30157795 )
2018
4
Multiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature. ( 30388281 )
2018
5
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. ( 28413837 )
2017
6
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. ( 28471317 )
2017
7
Aqueous misdirection syndrome in persistent fetal vasculature (PFV). ( 28954029 )
2017
8
Bilateral persistent fetal vasculature: mimicker of retinoblastoma. ( 28611142 )
2017
9
Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis. ( 29156060 )
2017
10
Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome. ( 29157424 )
2017
11
I^A3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye. ( 26022148 )
2016
12
PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature. ( 27033295 )
2016
13
A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. ( 27009512 )
2016
14
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
15
Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene. ( 26459204 )
2015
16
Visual outcome in early vitrectomy for posterior persistent fetal vasculature associated with traction retinal detachment. ( 25296126 )
2015
17
SEPTO-OPTIC DYSPLASIA ASSOCIATED WITH CONGENITAL PERSISTENT FETAL VASCULATURE, RETINAL DETACHMENT, AND GASTROSCHISIS. ( 25397592 )
2014
18
Persistent fetal vasculature: ocular features, management of cataract and outcomes. ( 23929081 )
2013
19
Radiology case of the month. An infant with leukocoria: persistent fetal vasculature syndrome. Persistent fetal vasculature syndrome (PFVS) of the right eye associated with microphthalmia, bilateral optic nerve and optic chiasm hypoplasia, and absence of the neurohypophysis. ( 24015435 )
2013
20
Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis. ( 23504283 )
2013
21
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-TrAcnaunay-Weber syndrome. ( 20451865 )
2010
22
Persistent Fetal Vasculature and Severe Protein C Deficiency. ( 21045961 )
2010
23
Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome. ( 20417569 )
2010
24
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trenaunay-Weber syndrome. ( 20736130 )
2010
25
Isolated group B streptococcal endogenous endophthalmitis simulating retinoblastoma or persistent fetal vasculature in a healthy full-term infant. ( 20637664 )
2010
26
Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. ( 19172507 )
2009
27
A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy. ( 19373682 )
2009
28
Persistent fetal vasculature associated with orbital lymphangioma. ( 17572349 )
2007
29
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. ( 17353427 )
2007
30
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. ( 16534066 )
2006
31
Persistent fetal vasculature associated with orbital lymphangioma. ( 16814189 )
2006
32
Bilateral persistent fetal vasculature associated with holoprosencephaly. ( 15305535 )
2004
33
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. ( 15492745 )
2004
34
Persistent fetal vasculature and minimal fetal vascular remnants: a frequent cause of unilateral congenital cataracts. ( 15121367 )
2004
35
Optic nerve teratoma and odontogenic dermoid cyst in a neonate with persistent fetal vasculature. ( 12427078 )
2002
36
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation. ( 10744380 )
2000
37
Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). LIV Edward Jackson Memorial Lecture. ( 9372715 )
1997

Variations for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 ATOH7 p.Asn46His VAR_072398 rs587777666
2 ATOH7 p.Glu49Val VAR_072400 rs587777664

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATOH7 NC_000010.11: g.68247363_68253885del6523 deletion Pathogenic GRCh38 Chromosome 10, 68247363: 68253885
2 ATOH7 NM_145178.3(ATOH7): c.146A> T (p.Glu49Val) single nucleotide variant Pathogenic rs587777664 GRCh37 Chromosome 10, 69991289: 69991289
3 ATOH7 NM_145178.3(ATOH7): c.146A> T (p.Glu49Val) single nucleotide variant Pathogenic rs587777664 GRCh38 Chromosome 10, 68231532: 68231532
4 ATOH7 NM_145178.3(ATOH7): c.53delC (p.Pro18Argfs) deletion Pathogenic rs587777665 GRCh37 Chromosome 10, 69991382: 69991382
5 ATOH7 NM_145178.3(ATOH7): c.53delC (p.Pro18Argfs) deletion Pathogenic rs587777665 GRCh38 Chromosome 10, 68231625: 68231625
6 ATOH7 NM_145178.3(ATOH7): c.136A> C (p.Asn46His) single nucleotide variant Pathogenic rs587777666 GRCh37 Chromosome 10, 69991299: 69991299
7 ATOH7 NM_145178.3(ATOH7): c.136A> C (p.Asn46His) single nucleotide variant Pathogenic rs587777666 GRCh38 Chromosome 10, 68231542: 68231542
8 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh37 Chromosome 7, 120446673: 120446673
9 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh38 Chromosome 7, 120806619: 120806619

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

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