MCID: PRS062
MIFTS: 37

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, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 11 24 54 27 39 13
Phpv 24 54
Non-Syndromic Congenital Retinal Non-Attachment 54
Persistent Fetal Vasculature Syndrome 54
 
Congenital Retinal Detachment 54
Ncrna Disease 54
Pfvs 54

Characteristics:

Orphanet epidemiological data:

54
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:0060282
MeSH39 D054514
Orphanet54 ORPHA91495
ICD10 via Orphanet31 Q14.0
MESH via Orphanet40 D054514
UMLS via Orphanet69 C0266568
UMLS68 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

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Wikipedia:71 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly28.8FOXC1, HDAC9, PAX6, PITX2
2persistent hyperplastic primary vitreous, autosomal recessive12.6
3oculopalatocerebral syndrome11.2
4pediatric extraocular retinoblastoma10.4FZD4, NDP
5tuberculous peritonitis10.4FZD4, NDP
6cataract10.4
7arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.3FZD4, NDP
8hyperostosis, endosteal10.3FZD4, NDP
9ring dermoid of cornea10.2FOXC1, PITX2
10glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2FOXC1, PAX6
11regular astigmatism10.2FZD4, NDP
12nystagmus 5, congenital, x-linked10.2FZD4, NDP
13retinitis10.2
14extraocular retinoblastoma10.0HDAC9, NDP
15myopia10.0
16acute contagious conjunctivitis10.0FOXC1, HDAC9
17isolated growth hormone deficiency, type ib, gh1-related9.9FOXC1, PAX6, PITX2
18adrenal cortical hypofunction9.9FOXC1, PAX6, PITX2
19lactocele9.9FOXC1, PAX6, PITX2
20hypogonadotropic hypogonadism 24 without anosmia9.9FOXC1, PAX6, PITX2
21coloboma, ocular9.8ATOH7, PAX6
22schizencephaly9.8
23osteoporosis9.8
24osteoporosis-pseudoglioma syndrome9.8
25retinoblastoma9.8
26retinoschisis9.8
27norrie disease9.8
28coats disease9.8
29megalocornea9.8
30exudative vitreoretinopathy9.8
31amblyopia9.8
32microphthalmia9.8
33sarcoma9.8
34buphthalmos9.8
35choroiditis9.8
36ecthyma9.8
37facial paralysis9.8
38turner syndrome9.8
39protein c deficiency9.8
40medulloepithelioma9.8
41retinal detachment9.8
42adenoma9.8
43fetal adenoma9.8
44hemophilia9.8
45megacolon9.8HDAC9, PAX6
46chronic tympanitis9.6FOXC1, HDAC9, PITX2
47disuse amblyopia9.5HDAC9, PAX6
48rhinosporidiosis9.2FOXC1, HDAC9, PAX6, PITX2
49larsen-like syndrome9.2FOXC1, HDAC9, PAX6, PITX2
50combined oxidative phosphorylation deficiency6.9ATOH7, CADPS2, CDKN2A, FNBP1, FOXC1, FZD4

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

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MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2CDKN2A, FOXC1, FZD4, NDP, PAX6, PITX2
2MP:00053698.6CDKN2A, FOXC1, FZD4, HDAC9, PAX6, PITX2
3MP:00053798.6CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C, PAX6
4MP:00053898.4ATOH7, CDKN2A, FOXC1, FZD4, JMJD1C, NDP
5MP:00053868.3ATOH7, CADPS2, CDKN2A, FZD4, KIF2A, NDP
6MP:00053858.2ATOH7, CDKN2A, FOXC1, FZD4, HDAC9, NDP
7MP:00036317.9ATOH7, CADPS2, CDKN2A, FOXC1, FZD4, KIF2A
8MP:00053847.7ATOH7, CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C
9MP:00053917.6ATOH7, CDKN2A, FOXC1, FZD4, JMJD1C, NDP

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 Vitreous27 24

Anatomical Context for Persistent Hyperplastic Primary Vitreous

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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

36
Eye, Pituitary, Retina

Publications for Persistent Hyperplastic Primary Vitreous

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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. (27582535)
2016
2
Congenital cataract associated with persistent hyperplastic primary vitreous and persistent tunica vasculosa lentis in a sambar deer (Rusa unicolor) - clinical, ultrasonographic, and histological findings. (27386118)
2016
3
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. (28008699)
2016
4
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. (26466234)
2015
5
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. (25564632)
2015
6
Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit. (25623165)
2015
7
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. (26484646)
2015
8
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. (24550361)
2014
9
Ultrasonographic feature of persistent hyperplastic primary vitreous. (26011960)
2014
10
Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. (24623965)
2014
11
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
12
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
13
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. (24014984)
2013
14
Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. (23878133)
2013
15
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
16
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
17
Bilateral persistent hyperplastic primary vitreous: A rare entity. (22557881)
2012
18
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. (22946409)
2011
19
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
20
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
21
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
2010
22
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
23
Persistent hyperplastic primary vitreous: congenital malformation of the eye. (20092598)
2009
24
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
25
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. (17630629)
2007
26
Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor. (17251441)
2007
27
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. (16470791)
2006
28
Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance. (17375531)
2006
29
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
30
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
31
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. (16121558)
2005
32
Outcomes in persistent hyperplastic primary vitreous. (15965167)
2005
33
Bilateral persistent hyperplastic primary vitreous. (15727615)
2005
34
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
35
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs. (15091321)
2004
36
Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene. (15452040)
2004
37
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. (14597061)
2003
38
Persistent hyperplastic primary vitreous. (12776904)
2003
39
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. (12846526)
2003
40
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
41
Persistent hyperplastic primary vitreous and von Hippel-Lindau disease: contribution of color Doppler ultrasonography. (12008820)
2002
42
A case of anterior-type persistent hyperplastic primary vitreous. (12458849)
2002
43
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
44
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
45
Additional considerations in cases involving persistent hyperplastic primary vitreous. (11231790)
2001
46
Intraocular lens implantation in a child with monocular cataract and anterior persistent hyperplastic primary vitreous. (11255065)
2001
47
Ocular complications of persistent hyperplastic primary vitreous in three dogs. (11397317)
2001
48
Persistent hyperplastic primary vitreous--a case report. (12035380)
2001
49
Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous (PHTVL/PHPV) in two cats. (11423000)
2001
50
Treatment of posterior persistent hyperplastic primary vitreous complicated by tractional retinoschisis in an adult. (11508890)
2001

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:003542610.7FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:006129910.6FZD4, NDP
3eye developmentGO:000165410.5FOXC1, PAX6
4lacrimal gland developmentGO:003280810.5FOXC1, PAX6
5iris morphogenesisGO:006107210.2PAX6, PITX2
6pituitary gland developmentGO:002198310.2PAX6, PITX2
7blood vessel developmentGO:000156810.2FOXC1, FZD4, PAX6
8camera-type eye developmentGO:00430109.9FOXC1, PAX6, PITX2
9transcription from RNA polymerase II promoterGO:00063669.5COPS2, FOXC1, PAX6, PITX2
10Wnt signaling pathwayGO:00160559.4FZD4, NDP, PITX2
11positive regulation of transcription, DNA-templatedGO:00458939.4FOXC1, FZD4, NDP, PAX6, PITX2
12neuron differentiationGO:00301829.3COPS2, FZD4, HDAC9, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1dioxygenase activityGO:005121310.3JMJD1C, KDM3B
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.8FOXC1, PAX6, PITX2
3transcription factor bindingGO:00081348.4FOXC1, HDAC9, PAX6, PITX2

Sources for Persistent Hyperplastic Primary Vitreous

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet