PFVS
MCID: PRS062
MIFTS: 38

Persistent Hyperplastic Primary Vitreous (PFVS) 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

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), and among its related pathways is Mesodermal Commitment Pathway. Affiliated tissues include eye, pituitary and retina, and related mouse phenotypes are pigmentation and cardiovascular system.

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly30.3FOXC1, PAX6
2persistent hyperplastic primary vitreous, autosomal recessive12.6
3oculopalatocerebral syndrome11.1
4cataract10.4
5kcnj10-related pendred syndrome10.2FOXC1, PAX6
6retinitis10.2
7neonatal abstinence syndrome10.2FZD4, NDP
8seckel syndrome 810.1ATOH7, TSPAN12
9coloboma of optic nerve10.1ATOH7, PAX6
10van buchem disease, type 210.1FZD4, NDP
11scapuloperoneal syndrome, myopathic type10.1FOXC1, PITX2
12conjunctival folliculosis10.1FOXC1, PITX2
13breast osteosarcoma10.1FZD4, NDP, TSPAN12
14cardiac arrhythmia, ankyrin-b-related10.1FOXC1, PITX2
15biemond syndrome ii10.1FZD4, NDP, TSPAN12
16nystagmus 5, congenital, x-linked10.1FZD4, NDP, TSPAN12
17vernal conjunctivitis10.1FZD4, NDP, TSPAN12
18anterograde amnesia10.0FZD4, NDP, TSPAN12
19hypermethioninemia10.0FZD4, NDP, TSPAN12
20albinism, oculocutaneous, type ib10.0FZD4, NDP, TSPAN12
21orbital granuloma10.0FOXC1, PAX6, PITX2
22aphakia, congenital primary10.0FOXC1, PAX6, PITX2
23jph2-related familial hypertrophic cardiomyopathy10.0FOXC1, PAX6, PITX2
24skin granular cell tumor10.0FOXC1, PAX6, PITX2
25hypertrophy of breast10.0FOXC1, PAX6, PITX2
26deafness, autosomal recessive 9110.0FOXC1, PAX6, PITX2
27myopia 710.0FOXC1, PAX6, PITX2
28myopia10.0
29muir-torre syndrome10.0FOXC1, PAX6, PITX2
30nevoid hypermelanosis, linear and whorled10.0CDKN2A, FOXC1, PITX2
31ring dermoid of cornea9.9PAX6, PITX2
32schizencephaly9.8
33osteoporosis9.8
34osteoporosis-pseudoglioma syndrome9.8
35retinoblastoma9.8
36retinoschisis9.8
37norrie disease9.8
38coats disease9.8
39megalocornea9.8
40exudative vitreoretinopathy9.8
41walker-warburg syndrome9.8
42amblyopia9.8
43microphthalmia9.8
44sarcoma9.8
45buphthalmos9.8
46choroiditis9.8
47ecthyma9.8
48tuberous sclerosis9.8
49facial paralysis9.8
50turner syndrome9.8

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:00053858.5ATOH7, CDKN2A, FOXC1, FZD4, NDP, PAX6
3MP:00053868.4ATOH7, CADPS2, CDKN2A, FZD4, KIF2A, NDP
4MP:00053798.2CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C, PAX6
5MP:00036318.1ATOH7, CADPS2, CDKN2A, FOXC1, FZD4, KIF2A
6MP:00053898.1ATOH7, CDKN2A, FOXC1, FZD4, JMJD1C, NDP
7MP:00053847.6ATOH7, CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C
8MP:00053916.8ATOH7, 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 144)
idTitleAuthorsYear
1
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. (28154792)
2017
2
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. (28008699)
2016
3
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
4
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. (27582535)
2016
5
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. (26484646)
2015
6
Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit. (25623165)
2015
7
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. (26466234)
2015
8
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. (25564632)
2015
9
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. (24550361)
2014
10
Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. (24623965)
2014
11
Ultrasonographic feature of persistent hyperplastic primary vitreous. (26011960)
2014
12
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
13
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
14
Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. (23878133)
2013
15
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. (24014984)
2013
16
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
17
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
18
Bilateral persistent hyperplastic primary vitreous: A rare entity. (22557881)
2012
19
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. (22946409)
2011
20
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
21
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
2010
22
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
23
Persistent hyperplastic primary vitreous: congenital malformation of the eye. (20092598)
2009
24
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
25
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
26
Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor. (17251441)
2007
27
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. (17630629)
2007
28
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. (16470791)
2006
29
Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance. (17375531)
2006
30
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
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
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
35
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
36
Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene. (15452040)
2004
37
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs. (15091321)
2004
38
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. (14597061)
2003
39
Persistent hyperplastic primary vitreous. (12776904)
2003
40
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. (12846526)
2003
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
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
44
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
45
Additional considerations in cases involving persistent hyperplastic primary vitreous. (11231790)
2001
46
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
47
Intraocular lens implantation in a child with monocular cataract and anterior persistent hyperplastic primary vitreous. (11255065)
2001
48
Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous (PHTVL/PHPV) in two cats. (11423000)
2001
49
Ocular complications of persistent hyperplastic primary vitreous in three dogs. (11397317)
2001
50
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. (11527934)
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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Pathways related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0FOXC1, FZD4, PAX6, PITX2

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
1nucleoplasmGO:00056547.0CADPS2, CDKN2A, COPS2, FOXC1, JMJD1C, KDM3B

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:003542610.7FZD4, NDP
2eye developmentGO:000165410.5FOXC1, PAX6
3lacrimal gland developmentGO:003280810.5FOXC1, PAX6
4retina vasculature morphogenesis in camera-type eyeGO:006129910.5FZD4, NDP
5blood vessel developmentGO:000156810.3FOXC1, FZD4, PAX6
6positive regulation of DNA bindingGO:004338810.3FOXC1, PITX2
7iris morphogenesisGO:006107210.2PAX6, PITX2
8pituitary gland developmentGO:002198310.2PAX6, PITX2
9histone H3-K9 demethylationGO:003316910.0JMJD1C, KDM3B
10neuron differentiationGO:003018210.0COPS2, FZD4, PITX2
11camera-type eye developmentGO:00430109.9FOXC1, PAX6, PITX2
12Wnt signaling pathwayGO:00160559.3FZD4, NDP, PITX2
13positive regulation of transcription, DNA-templatedGO:00458939.0CDKN2A, FOXC1, FZD4, NDP, PAX6, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1histone demethylase activity (H3-K9 specific)GO:00324549.9JMJD1C, KDM3B
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.9FOXC1, PAX6, PITX2
3Wnt-activated receptor activityGO:00428139.7FZD4, TSPAN12
4transcription factor bindingGO:00081349.4CDKN2A, FOXC1, PAX6, PITX2
5chromatin DNA bindingGO:00314909.3JMJD1C, KDM3B, PITX2
6transcription regulatory region sequence-specific DNA bindingGO:00009769.0JMJD1C, KDM3B, 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