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

Aliases & Descriptions for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 12 24 56 29 42 14
Phpv 24 56
Non-Syndromic Congenital Retinal Non-Attachment 56
Persistent Fetal Vasculature Syndrome 56
Congenital Retinal Detachment 56
Ncrna Disease 56
Pfvs 56

Characteristics:

Orphanet epidemiological data:

56
persistent hyperplastic primary vitreous
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060282
MeSH 42 D054514
Orphanet 56 ORPHA91495
ICD10 via Orphanet 34 Q14.0
MESH via Orphanet 43 D054514
UMLS via Orphanet 70 C0266568
UMLS 69 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

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/superpathways is Mesodermal Commitment Pathway. Affiliated tissues include eye, pituitary and retina, and related phenotypes are behavior/neurological and cellular

Wikipedia : 71 Persistent hyperplastic primary vitreous (PHPV), also known as Persistent Fetal Vasculature (PFV), is a... more...

Related Diseases for Persistent Hyperplastic Primary Vitreous

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)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 30.3 FOXC1 PAX6
2 persistent hyperplastic primary vitreous, autosomal recessive 12.6
3 oculopalatocerebral syndrome 11.1
4 cataract 10.4
5 kcnj10-related pendred syndrome 10.2 FOXC1 PAX6
6 retinitis 10.2
7 neonatal abstinence syndrome 10.2 FZD4 NDP
8 seckel syndrome 8 10.1 ATOH7 TSPAN12
9 coloboma of optic nerve 10.1 ATOH7 PAX6
10 van buchem disease, type 2 10.1 FZD4 NDP
11 scapuloperoneal syndrome, myopathic type 10.1 FOXC1 PITX2
12 conjunctival folliculosis 10.1 FOXC1 PITX2
13 breast osteosarcoma 10.1 FZD4 NDP TSPAN12
14 cardiac arrhythmia, ankyrin-b-related 10.1 FOXC1 PITX2
15 biemond syndrome ii 10.1 FZD4 NDP TSPAN12
16 nystagmus 5, congenital, x-linked 10.1 FZD4 NDP TSPAN12
17 vernal conjunctivitis 10.1 FZD4 NDP TSPAN12
18 anterograde amnesia 10.0 FZD4 NDP TSPAN12
19 hypermethioninemia 10.0 FZD4 NDP TSPAN12
20 albinism, oculocutaneous, type ib 10.0 FZD4 NDP TSPAN12
21 orbital granuloma 10.0 FOXC1 PAX6 PITX2
22 aphakia, congenital primary 10.0 FOXC1 PAX6 PITX2
23 jph2-related familial hypertrophic cardiomyopathy 10.0 FOXC1 PAX6 PITX2
24 skin granular cell tumor 10.0 FOXC1 PAX6 PITX2
25 hypertrophy of breast 10.0 FOXC1 PAX6 PITX2
26 deafness, autosomal recessive 91 10.0 FOXC1 PAX6 PITX2
27 myopia 7 10.0 FOXC1 PAX6 PITX2
28 myopia 10.0
29 muir-torre syndrome 10.0 FOXC1 PAX6 PITX2
30 nevoid hypermelanosis, linear and whorled 10.0 CDKN2A FOXC1 PITX2
31 ring dermoid of cornea 9.9 PAX6 PITX2
32 exudative vitreoretinopathy 9.8
33 adenoma 9.8
34 walker-warburg syndrome 9.8
35 fetal adenoma 9.8
36 amblyopia 9.8
37 neurofibromatosis 9.8
38 microphthalmia 9.8
39 hemophilia 9.8
40 sarcoma 9.8
41 schizencephaly 9.8
42 buphthalmos 9.8
43 osteoporosis 9.8
44 choroiditis 9.8
45 osteoporosis-pseudoglioma syndrome 9.8
46 ecthyma 9.8
47 retinoblastoma 9.8
48 tuberous sclerosis 9.8
49 retinoschisis 9.8
50 facial paralysis 9.8

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

MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 NDP PAX6 PITX2 ATOH7 CADPS2 CDKN2A
2 cellular MP:0005384 10.02 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C KIF2A
3 cardiovascular system MP:0005385 10.01 ATOH7 CDKN2A FOXC1 FZD4 NDP PAX6
4 nervous system MP:0003631 9.91 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 KIF2A
5 endocrine/exocrine gland MP:0005379 9.87 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C PAX6
6 pigmentation MP:0001186 9.63 CDKN2A FOXC1 FZD4 NDP PAX6 PITX2
7 reproductive system MP:0005389 9.56 ATOH7 CDKN2A FOXC1 FZD4 JMJD1C NDP
8 vision/eye MP:0005391 9.28 NDP PAX6 PITX2 TSPAN12 ATOH7 CDKN2A

Drugs & Therapeutics for Persistent Hyperplastic Primary Vitreous

Search Clinical Trials , NIH Clinical Center for Persistent Hyperplastic Primary Vitreous

Cochrane evidence based reviews: persistent hyperplastic primary vitreous

Genetic Tests for Persistent Hyperplastic Primary Vitreous

Genetic tests related to Persistent Hyperplastic Primary Vitreous:

id Genetic test Affiliating Genes
1 Persistent Hyperplastic Primary Vitreous 29 24

Anatomical Context for Persistent Hyperplastic Primary Vitreous

MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

39
Eye, Pituitary, Retina

Publications for Persistent Hyperplastic Primary Vitreous

Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50) (show all 144)
id Title Authors Year
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

Expression for Persistent Hyperplastic Primary Vitreous

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

Pathways for Persistent Hyperplastic Primary Vitreous

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 FOXC1 FZD4 PAX6 PITX2

GO Terms for Persistent Hyperplastic Primary Vitreous

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.23 CADPS2 CDKN2A COPS2 FOXC1 JMJD1C KDM3B

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.7 FZD4 NDP PITX2
2 neuron differentiation GO:0030182 9.63 COPS2 FZD4 PITX2
3 eye development GO:0001654 9.51 FOXC1 PAX6
4 pituitary gland development GO:0021983 9.49 PAX6 PITX2
5 positive regulation of DNA binding GO:0043388 9.48 FOXC1 PITX2
6 histone H3-K9 demethylation GO:0033169 9.43 JMJD1C KDM3B
7 camera-type eye development GO:0043010 9.43 FOXC1 PAX6 PITX2
8 iris morphogenesis GO:0061072 9.4 PAX6 PITX2
9 retina vasculature morphogenesis in camera-type eye GO:0061299 9.37 FZD4 NDP
10 blood vessel development GO:0001568 9.33 FOXC1 FZD4 PAX6
11 lacrimal gland development GO:0032808 9.32 FOXC1 PAX6
12 positive regulation of transcription, DNA-templated GO:0045893 9.1 CDKN2A FOXC1 FZD4 NDP PAX6 PITX2
13 extracellular matrix-cell signaling GO:0035426 8.96 FZD4 NDP

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.54 FOXC1 PAX6 PITX2
2 transcription factor binding GO:0008134 9.46 CDKN2A FOXC1 PAX6 PITX2
3 Wnt-activated receptor activity GO:0042813 9.32 FZD4 TSPAN12
4 histone demethylase activity (H3-K9 specific) GO:0032454 9.26 JMJD1C KDM3B
5 chromatin DNA binding GO:0031490 9.13 JMJD1C KDM3B PITX2
6 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 JMJD1C KDM3B PITX2

Sources for Persistent Hyperplastic Primary Vitreous

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11 DGIdb
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60 QIAGEN
65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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