MCID: PRS062
MIFTS: 38

Persistent Hyperplastic Primary Vitreous malady

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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Sources:
11Disease Ontology, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 11 23 13 52 25 37
Phpv 23 52
 
Persistent Fetal Vasculature Syndrome 52
Pfvs 52

Characteristics:

Orphanet epidemiological data:

52
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:0060282
MeSH37 D054514
Orphanet52 ORPHA91495
ICD10 via Orphanet29 Q14.0
MESH via Orphanet38 D054514
UMLS via Orphanet67 C0266568
UMLS66 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

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Wikipedia:69 Persistent hyperplastic primary vitreous (PHPV), also known as Persistent Fetal Vasculature (PFV), is a... more...

MalaCards based summary: Persistent Hyperplastic Primary Vitreous, also known as phpv, is related to peters anomaly and persistent hyperplastic primary vitreous, autosomal recessive. An important gene associated with Persistent Hyperplastic Primary Vitreous is ATOH7 (Atonal BHLH Transcription Factor 7). Affiliated tissues include eye, pituitary and retina, and related mouse phenotypes are pigmentation and muscle.

Related Diseases for Persistent Hyperplastic Primary Vitreous

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Diseases in the Persistent Hyperplastic Primary Vitreous family:

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

Diseases related to Persistent Hyperplastic Primary Vitreous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly29.3FOXC1, HDAC9, PAX6, PITX2
2persistent hyperplastic primary vitreous, autosomal recessive12.6
3pediatric extraocular retinoblastoma10.5FZD4, NDP
4cataract10.5
5tuberculous peritonitis10.5FZD4, NDP
6extraocular retinoblastoma10.4HDAC9, NDP
7arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.4FZD4, NDP
8acute contagious conjunctivitis10.3FOXC1, HDAC9
9hyperostosis, endosteal10.3FZD4, NDP
10glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.3FOXC1, PAX6
11retinitis10.3
12oculopalatocerebral syndrome10.3
13regular astigmatism10.3FZD4, NDP
14nystagmus 5, congenital, x-linked10.3FZD4, NDP
15ring dermoid of cornea10.2FOXC1, PITX2
16megacolon10.2HDAC9, PAX6
17myopia10.1
18schizencephaly9.9
19osteoporosis9.9
20osteoporosis-pseudoglioma syndrome9.9
21retinoblastoma9.9
22retinoschisis9.9
23norrie disease9.9
24coats disease9.9
25megalocornea9.9
26exudative vitreoretinopathy9.9
27walker-warburg syndrome9.9
28amblyopia9.9
29microphthalmia9.9
30buphthalmos9.9
31choroiditis9.9
32ecthyma9.9
33tuberous sclerosis9.9
34facial paralysis9.9
35turner syndrome9.9
36protein c deficiency9.9
37medulloepithelioma9.9
38retinal detachment9.9
39adenoma9.9
40fetal adenoma9.9
41neurofibromatosis9.9
42hemophilia9.9
43coloboma, ocular9.9ATOH7, PAX6
44disuse amblyopia9.9HDAC9, PAX6
45isolated growth hormone deficiency, type ib, gh1-related9.9FOXC1, PAX6, PITX2
46adrenal cortical hypofunction9.9FOXC1, PAX6, PITX2
47lactocele9.8FOXC1, PAX6, PITX2
48hypogonadotropic hypogonadism 24 without anosmia9.8FOXC1, PAX6, PITX2
49chronic tympanitis9.8FOXC1, HDAC9, PITX2
50rhinosporidiosis9.5FOXC1, HDAC9, PAX6, PITX2

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



Diseases related to persistent hyperplastic primary vitreous

Symptoms for Persistent Hyperplastic Primary Vitreous

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Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Persistent Hyperplastic Primary Vitreous


Cochrane evidence based reviews: persistent hyperplastic primary vitreous

Genetic Tests for Persistent Hyperplastic Primary Vitreous

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Genetic tests related to Persistent Hyperplastic Primary Vitreous:

id Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous25 23

Anatomical Context for Persistent Hyperplastic Primary Vitreous

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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

34
Eye, Pituitary, Retina

Animal Models for Persistent Hyperplastic Primary Vitreous or affiliated genes

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MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8CDKN2A, FOXC1, FZD4, NDP, PAX6, PITX2
2MP:00053698.5CDKN2A, FOXC1, FZD4, HDAC9, PAX6, PITX2
3MP:00053818.0CDKN2A, FOXC1, FOXF2, FZD4, PAX6, PITX2
4MP:00030128.0CDKN2A, FOXF2, FZD4, NDP, NRN1, PITX2
5MP:00053898.0ATOH7, CDKN2A, FOXC1, FZD4, JMJD1C, NDP
6MP:00053797.8CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C, PAX6
7MP:00053857.8ATOH7, CDKN2A, FOXC1, FZD4, HDAC9, NDP
8MP:00053847.3ATOH7, CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C
9MP:00053907.3CDKN2A, FOXC1, FOXF2, JMJD1C, NDP, PAX6
10MP:00053916.8ATOH7, CDKN2A, FOXC1, FOXF2, FZD4, JMJD1C
11MP:00036316.6ATOH7, CADPS2, CDKN2A, FOXC1, FOXF2, FZD4
12MP:00053866.4ATOH7, CADPS2, CDKN2A, FOXF2, FZD4, NDP
13MP:00053786.3CADPS2, CDKN2A, FOXC1, FOXF2, FZD4, HDAC9

Publications for Persistent Hyperplastic Primary Vitreous

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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. (27582535)
2016
2
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. (26466234)
2015
3
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. (25564632)
2015
4
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
5
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
6
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
7
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
8
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. (22946409)
2011
9
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
10
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
11
Persistent hyperplastic primary vitreous: congenital malformation of the eye. (20092598)
2009
12
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
13
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. (16470791)
2006
14
Surgical management and histologic and immunohistochemical features of a cataract and retrolental plaque secondary to persistent hyperplastic tunica vasculosa lentis/persistent hyperplastic primary vitreous (PHTVL/PHPV) in a Bloodhound puppy. (15310298)
2004
15
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. (14597061)
2003
16
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
17
Persistent hyperplastic primary vitreous and von Hippel-Lindau disease: contribution of color Doppler ultrasonography. (12008820)
2002
18
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
19
Additional considerations in cases involving persistent hyperplastic primary vitreous. (11231790)
2001
20
Intraocular lens implantation in a child with monocular cataract and anterior persistent hyperplastic primary vitreous. (11255065)
2001
21
Persistent hyperplastic primary vitreous associated with septo-optic-pituitary dysplasia and schizencephaly. (10766149)
2000
22
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. (10471898)
1999
23
Incising the thick retrolental fibrovascular tissue with a hooked sclerotome in persistent hyperplastic primary vitreous. (10574499)
1999
24
Persistent hyperplastic primary vitreous: MRI. (10450848)
1999
25
Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous. (10218708)
1999
26
Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous. (9747677)
1998
27
Coats' disease and persistent hyperplastic primary vitreous. Role of MR imaging and CT. (9884692)
1998
28
Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous. (9514496)
1998
29
High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice. (10200460)
1998
30
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
31
Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. (9134299)
1997
32
Results of treatment of persistent hyperplastic primary vitreous. (2014111)
1991
33
Persistent hyperplastic primary vitreous with glaucoma presenting in infancy. (1867540)
1991
34
Treatment of persistent hyperplastic primary vitreous. (1895342)
1991
35
Persistent hyperplastic primary vitreous with vertical transmission. (2377350)
1990
36
Persistent hyperplastic primary vitreous in the right eye and congenital grouped pigmentation of the retina in the left. (2498796)
1989
37
Rieger's eye anomaly and persistent hyperplastic primary vitreous. (2628817)
1989
38
Posterior persistent hyperplastic primary vitreous. (3377066)
1988
39
Visual acuity results following treatment of persistent hyperplastic primary vitreous. (3707410)
1986
40
Phacoanaphylactoid reaction in persistent hyperplastic primary vitreous. (3876535)
1985
41
Management of persistent hyperplastic primary vitreous. (6639512)
1983
42
Pars plicata surgery in the child for pupillary membranes, persistent hyperplastic primary vitreous, and infantile cataract. (6623574)
1983
43
Surgical management of persistent hyperplastic primary vitreous. (7343346)
1981
44
Persistent hyperplastic primary vitreous and microphthalmia in a dog. (7275755)
1981
45
Persistent hyperplastic primary vitreous in a dog. (965282)
1976
46
Intraocular adipose tissue and persistent hyperplastic primary vitreous. (5791501)
1969
47
Persistent hyperplastic primary vitreous. Early surgical management. (6061529)
1967
48
PERSISTENT HYPERPLASTIC PRIMARY VITREOUS. (14167205)
1964
49
Persistent hyperplastic primary vitreous; special reference to preretinal glial tissue as a pathological characteristic and to the development of the primary vitreous. (13497373)
1958
50
Persistent hyperplastic primary vitreous. (13247323)
1955

Variations for Persistent Hyperplastic Primary Vitreous

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Expression for genes affiliated with Persistent Hyperplastic Primary Vitreous

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

Pathways for genes affiliated with Persistent Hyperplastic Primary Vitreous

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GO Terms for genes affiliated with Persistent Hyperplastic Primary Vitreous

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056678.6FOXF2, HDAC9, PITX2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:003542610.6FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:006129910.5FZD4, NDP
3lacrimal gland developmentGO:003280810.5FOXC1, PAX6
4eye developmentGO:000165410.3FOXC1, PAX6
5iris morphogenesisGO:006107210.1PAX6, PITX2
6pituitary gland developmentGO:00219839.9PAX6, PITX2
7embryonic camera-type eye morphogenesisGO:00485969.8FOXF2, PAX6
8blood vessel developmentGO:00015689.8FOXC1, FZD4, PAX6
9camera-type eye developmentGO:00430109.6FOXC1, PAX6, PITX2
10neuron differentiationGO:00301829.1FZD4, HDAC9, PITX2
11Wnt signaling pathwayGO:00160559.0FZD4, NDP, PITX2
12transcription from RNA polymerase II promoterGO:00063668.2FOXC1, FOXF2, PAX6, PITX2
13positive regulation of transcription, DNA-templatedGO:00458937.9FOXC1, FOXF2, FZD4, NDP, PAX6, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1dioxygenase activityGO:005121310.2JMJD1C, KDM3B
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.4FOXC1, PAX6, PITX2
3transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.1FOXC1, FOXF2, PAX6
4sequence-specific DNA bindingGO:00435658.3FOXC1, FOXF2, PAX6, PITX2
5transcription factor bindingGO:00081347.6FOXC1, FOXF2, HDAC9, PAX6, PITX2

Sources for Persistent Hyperplastic Primary Vitreous

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet