MCID: PRS062
MIFTS: 38

Persistent Hyperplastic Primary Vitreous

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

MalaCards integrated aliases 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
MESH via Orphanet 43 D054514
UMLS via Orphanet 70 C0266568 C1857299
ICD10 via Orphanet 34 Q14.0
UMLS 69 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

MalaCards based summary : Persistent Hyperplastic Primary Vitreous, also known as phpv, is related to persistent hyperplastic primary vitreous, autosomal recessive and oculopalatocerebral syndrome. 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 cellular and behavior/neurological

Wikipedia : 72 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 57)
id Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 12.6
2 oculopalatocerebral syndrome 11.1
3 jag1-related alagille syndrome 10.6 FOXC1 PAX6
4 adult brain ependymoma 10.5 FZD4 NDP
5 hyperostosis, endosteal 10.4 FZD4 NDP
6 cataract 10.4
7 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.3 FZD4 NDP
8 apoa1-related familial visceral amyloidosis 10.3 NDP PAX6
9 testicular granulosa cell tumor 10.3 ATOH7 FZD4 NDP
10 retinitis 10.2
11 coloboma of optic nerve 10.2 ATOH7 PAX6
12 morning glory syndrome 10.1
13 coloboma 10.1
14 larsen-like syndrome 10.1 FOXC1 PITX2
15 conjunctival folliculosis 10.0 FOXC1 PITX2
16 mitral valve prolapse, myxomatous 3 10.0 FOXC1 PITX2
17 myopia 10.0
18 astigmatism 10.0 FZD4 NDP
19 cardiac arrhythmia, ankyrin-b-related 10.0 FOXC1 PITX2
20 cataract 11, multiple types 9.9 PAX6 PITX2
21 exudative vitreoretinopathy 9.8
22 medulloepithelioma 9.8
23 walker-warburg syndrome 9.8
24 retinal detachment 9.8
25 megalocornea 9.8
26 adenoma 9.8
27 amblyopia 9.8
28 fetal adenoma 9.8
29 microphthalmia 9.8
30 hemophilia 9.8
31 sarcoma 9.8
32 schizencephaly 9.8
33 choroiditis 9.8
34 osteoporosis 9.8
35 ecthyma 9.8
36 osteoporosis-pseudoglioma syndrome 9.8
37 retinoblastoma 9.8
38 tuberous sclerosis 9.8
39 retinoschisis 9.8
40 facial paralysis 9.8
41 norrie disease 9.8
42 axenfeld-rieger syndrome 9.8
43 coats disease 9.8
44 turner syndrome 9.8
45 protein c deficiency 9.8
46 adrenal cortical hypofunction 9.8 FOXC1 PAX6 PITX2
47 nail disorder, nonsyndromic congenital, 1 9.8 CDKN2A FOXC1 PITX2
48 skin granular cell tumor 9.8 FOXC1 PAX6 PITX2
49 isolated microphthalmia 9.8 FOXC1 PAX6 PITX2
50 taeniasis 9.8 FOXC1 PITX2

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 cellular MP:0005384 10.1 ATOH7 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C
2 behavior/neurological MP:0005386 10.09 ATOH7 CADPS2 CDKN2A FZD4 KIF2A NDP
3 nervous system MP:0003631 10.02 PITX2 ATOH7 CADPS2 CDKN2A FOXC1 FZD4
4 endocrine/exocrine gland MP:0005379 9.91 CADPS2 CDKN2A FOXC1 FZD4 JMJD1C PAX6
5 no phenotypic analysis MP:0003012 9.73 FZD4 KIF2A NDP NRN1 CDKN2A PITX2
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 9.23 ATOH7 CDKN2A FOXC1 FZD4 JMJD1C NDP

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 145)
id Title Authors Year
1
Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous. ( 28393030 )
2017
2
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
3
Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog. ( 28008699 )
2016
4
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
5
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. ( 27582535 )
2016
6
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. ( 26466234 )
2015
7
Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation. ( 25564632 )
2015
8
Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous. ( 26484646 )
2015
9
Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit. ( 25623165 )
2015
10
Ultrasonographic feature of persistent hyperplastic primary vitreous. ( 26011960 )
2014
11
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. ( 24550361 )
2014
12
Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. ( 24623965 )
2014
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
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. ( 23762694 )
2013
16
Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous. ( 24014984 )
2013
17
Bilateral persistent hyperplastic primary vitreous: A rare entity. ( 22557881 )
2012
18
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. ( 23569541 )
2012
19
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. ( 22407547 )
2012
20
Approach to cataract with persistent hyperplastic primary vitreous. ( 21782083 )
2011
21
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. ( 22946409 )
2011
22
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
23
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. ( 19461663 )
2010
24
Bilateral persistent hyperplastic primary vitreous. ( 19075412 )
2009
25
Persistent hyperplastic primary vitreous: congenital malformation of the eye. ( 20092598 )
2009
26
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. ( 18634129 )
2008
27
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. ( 17630629 )
2007
28
Persistent hyperplastic primary vitreous due to somatic mosaic deletion of the arf tumor suppressor. ( 17251441 )
2007
29
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). ( 16760119 )
2006
30
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. ( 16470791 )
2006
31
Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance. ( 17375531 )
2006
32
Bilateral persistent hyperplastic primary vitreous. ( 15727615 )
2005
33
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. ( 16121558 )
2005
34
Outcomes in persistent hyperplastic primary vitreous. ( 15965167 )
2005
35
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. ( 15851549 )
2005
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
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
39
Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. ( 12846526 )
2003
40
Persistent hyperplastic primary vitreous. ( 12776904 )
2003
41
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. ( 14597061 )
2003
42
Unilateral persistent hyperplastic primary vitreous: course and outcome. ( 11997805 )
2002
43
Persistent hyperplastic primary vitreous and von Hippel-Lindau disease: contribution of color Doppler ultrasonography. ( 12008820 )
2002
44
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. ( 12055473 )
2002
45
A case of anterior-type persistent hyperplastic primary vitreous. ( 12458849 )
2002
46
Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous (PHTVL/PHPV) in two cats. ( 11423000 )
2001
47
Persistent hyperplastic primary vitreous--a case report. ( 12035380 )
2001
48
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. ( 11734512 )
2001
49
Ocular complications of persistent hyperplastic primary vitreous in three dogs. ( 11397317 )
2001
50
Intraocular lens implantation in a child with monocular cataract and anterior persistent hyperplastic primary vitreous. ( 11255065 )
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 14)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.83 ATOH7 KIF2A NDP NRN1
2 Wnt signaling pathway GO:0016055 9.71 FZD4 NDP PITX2
3 neuron differentiation GO:0030182 9.63 COPS2 FZD4 PITX2
4 camera-type eye development GO:0043010 9.54 FOXC1 PAX6 PITX2
5 eye development GO:0001654 9.51 FOXC1 PAX6
6 pituitary gland development GO:0021983 9.49 PAX6 PITX2
7 positive regulation of DNA binding GO:0043388 9.48 FOXC1 PITX2
8 histone H3-K9 demethylation GO:0033169 9.43 JMJD1C KDM3B
9 iris morphogenesis GO:0061072 9.4 PAX6 PITX2
10 blood vessel development GO:0001568 9.33 FOXC1 FZD4 PAX6
11 lacrimal gland development GO:0032808 9.32 FOXC1 PAX6
12 retina vasculature morphogenesis in camera-type eye GO:0061299 9.26 FZD4 NDP
13 positive regulation of transcription, DNA-templated GO:0045893 9.1 CDKN2A FOXC1 FZD4 NDP PAX6 PITX2
14 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 9.5 FOXC1 PAX6 PITX2
2 transcription factor binding GO:0008134 9.46 CDKN2A FOXC1 PAX6 PITX2
3 histone demethylase activity (H3-K9 specific) GO:0032454 9.26 JMJD1C KDM3B
4 chromatin DNA binding GO:0031490 9.13 JMJD1C KDM3B PITX2
5 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 JMJD1C KDM3B PITX2

Sources for Persistent Hyperplastic Primary Vitreous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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