MCID: PRS122
MIFTS: 33

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Eye 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, and related phenotypes are microcornea and cataract

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 all 29)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous 32.0 ATOH7 TSPAN12
2 retinal detachment 28.5 ATOH7 TSPAN12
3 exudative vitreoretinopathy 28.4 ATOH7 TSPAN12
4 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.3
5 osteoporosis 9.9
6 osteoporosis-pseudoglioma syndrome 9.9
7 microphthalmia 9.9
8 leukocoria 9.9
9 lymphangioma 9.9
10 retinitis 9.9
11 orbital lymphangioma 9.9
12 phace syndrome 9.9
13 weber syndrome 9.9
14 epicanthus 9.8
15 klippel-trenaunay-weber syndrome 9.8
16 retinoblastoma 9.8
17 septooptic dysplasia 9.8
18 gastroschisis 9.8
19 aicardi syndrome 9.8
20 norrie disease 9.8
21 cataract 9.8
22 holoprosencephaly 9.8
23 ptosis 9.8
24 blepharophimosis 9.8
25 aqueous misdirection 9.8
26 lens subluxation 9.8
27 protein c deficiency 9.8
28 endophthalmitis 9.8
29 scleral staphyloma 9.7

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

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

Publications for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Articles related to Persistent Hyperplastic Primary Vitreous, Autosomal Recessive:

(show all 27)
# Title Authors Year
1
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. ( 28413837 )
2017
2
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. ( 28471317 )
2017
3
Aqueous misdirection syndrome in persistent fetal vasculature (PFV). ( 28954029 )
2017
4
I^A3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye. ( 26022148 )
2016
5
PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature. ( 27033295 )
2016
6
A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. ( 27009512 )
2016
7
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. ( 27488160 )
2016
8
Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene. ( 26459204 )
2015
9
SEPTO-OPTIC DYSPLASIA ASSOCIATED WITH CONGENITAL PERSISTENT FETAL VASCULATURE, RETINAL DETACHMENT, AND GASTROSCHISIS. ( 25397592 )
2014
10
Persistent fetal vasculature: ocular features, management of cataract and outcomes. ( 23929081 )
2013
11
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
12
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-TrAcnaunay-Weber syndrome. ( 20451865 )
2010
13
Persistent Fetal Vasculature and Severe Protein C Deficiency. ( 21045961 )
2010
14
Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome. ( 20417569 )
2010
15
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trenaunay-Weber syndrome. ( 20736130 )
2010
16
Isolated group B streptococcal endogenous endophthalmitis simulating retinoblastoma or persistent fetal vasculature in a healthy full-term infant. ( 20637664 )
2010
17
Early vitrectomy effective for bilateral combined anterior and posterior persistent fetal vasculature syndrome. ( 20224462 )
2010
18
Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. ( 19172507 )
2009
19
A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy. ( 19373682 )
2009
20
Persistent fetal vasculature associated with orbital lymphangioma. ( 17572349 )
2007
21
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature. ( 17353427 )
2007
22
Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome. ( 16534066 )
2006
23
Persistent fetal vasculature associated with orbital lymphangioma. ( 16814189 )
2006
24
Bilateral persistent fetal vasculature associated with holoprosencephaly. ( 15305535 )
2004
25
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. ( 15492745 )
2004
26
The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation. ( 10744380 )
2000
27
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

Sources for Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

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