MCID: PRS062
MIFTS: 40

Persistent Hyperplastic Primary Vitreous malady

Genetic diseases, Eye diseases, Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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Sources:
10Disease Ontology, 22GeneTests, 12DISEASES, 51Orphanet, 36MeSH, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Persistent Hyperplastic Primary Vitreous:

Name: Persistent Hyperplastic Primary Vitreous 10 22 12 51 36
Phpv 22 51
 
Persistent Fetal Vasculature Syndrome 51
Pfvs 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0060282
MeSH36 D054514
Orphanet51 91495
ICD10 via Orphanet28 Q14.0
MESH via Orphanet37 D054514
UMLS via Orphanet66 C0266568

Summaries for Persistent Hyperplastic Primary Vitreous

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Wikipedia:68 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 osteoporosis-pseudoglioma syndrome and peters anomaly. 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 58)
idRelated DiseaseScoreTop Affiliating Genes
1osteoporosis-pseudoglioma syndrome30.8FZD4, NDP
2peters anomaly30.3FOXC1, HDAC9, PAX6, PITX2
3cataract10.9
4persistent hyperplastic primary vitreous, autosomal recessive10.8
5retinitis10.7
6coloboma10.6
7myopia10.5
8morning glory syndrome10.5
9schizencephaly10.3
10osteoporosis10.3
11muscular dystrophy-dystroglycanopathy , type a, 710.3
12retinoblastoma10.3
13retinoschisis10.3
14microphthalmia, syndromic 210.3
15norrie disease10.3
16exudative vitreoretinopathy10.3
17walker-warburg syndrome10.3
18protein c deficiency10.3
19tuberous sclerosis10.3
20choroiditis10.3
21buphthalmos10.3
22ecthyma10.3
23microphthalmia10.3
24fetal adenoma10.3
25medulloepithelioma10.3
26neurofibromatosis10.3
27megalocornea10.3
28coats disease10.3
29adenoma10.3
30amblyopia10.3
31facial paralysis10.3
32retinal detachment10.3
33turner syndrome10.3
34hemophilia10.3
35reese retinal dysplasia10.3
36oculo-palato-cerebral syndrome10.3
37retinal vascular disease10.2FZD4, NDP
38villous adenoma10.2FZD4, NDP
39hyperaldosteronism10.1FOXC1, HDAC9
40kidney osteogenic sarcoma10.1HDAC9, NDP
41glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.1FOXC1, PAX6
42hypopyon ulcer10.1FZD4, NDP
43exudative vitreoretinopathy 2, x-linked10.1FZD4, NDP
44optic nerve hypoplasia10.1ATOH7, PAX6
45leukocoria10.1
46autism spectrum disorder10.1
47gynecomastia10.1HDAC9, PAX6
48lutembacher's syndrome10.0CRYAA, PAX6
49amino acid metabolic disorder10.0HDAC9, PAX6
50isolated growth hormone deficiency, ghrh-related9.9FOXC1, 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 Vitreous22

Anatomical Context for Persistent Hyperplastic Primary Vitreous

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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

33
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:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8CDKN2A, FOXC1, FZD4, NDP, PAX6, PITX2
2MP:00053698.3CDKN2A, FOXC1, FZD4, HDAC9, PAX6, PITX2
3MP:00053818.1CDKN2A, FOXC1, FOXF2, FZD4, PAX6, PITX2
4MP:00053858.1ATOH7, FOXC1, FZD4, HDAC9, NDP, PAX6
5MP:00053797.8CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C, PAX6
6MP:00053907.8CDKN2A, FOXC1, FOXF2, JMJD1C, NDP, PAX6
7MP:00053897.4ATOH7, CDKN2A, FOXC1, FZD4, JMJD1C, NDP
8MP:00053847.4ATOH7, CADPS2, CDKN2A, CRYAA, FOXC1, FZD4
9MP:00053786.9CADPS2, CDKN2A, FOXC1, FOXF2, FZD4, HDAC9
10MP:00053916.8ATOH7, CDKN2A, CRYAA, FOXC1, FOXF2, FZD4
11MP:00036316.8ATOH7, CADPS2, CDKN2A, FOXC1, FOXF2, FZD4
12MP:00107686.6CADPS2, 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 137)
idTitleAuthorsYear
1
Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report. (26466234)
2015
2
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. (24550361)
2014
3
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
4
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
5
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
6
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
7
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
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
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
2010
10
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
11
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
12
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
13
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. (17630629)
2007
14
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
15
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
16
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. (16121558)
2005
17
Persistent hyperplastic primary vitreous. (12776904)
2003
18
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
19
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
20
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
21
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous. (10951297)
2000
22
Surgical results of persistent hyperplastic primary vitreous. (9951477)
1999
23
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. (10471898)
1999
24
Incising the thick retrolental fibrovascular tissue with a hooked sclerotome in persistent hyperplastic primary vitreous. (10574499)
1999
25
Persistent hyperplastic primary vitreous: MRI. (10450848)
1999
26
Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous. (9747677)
1998
27
Persistent hyperplastic primary vitreous in male twins. (9510656)
1997
28
Results of treatment of persistent hyperplastic primary vitreous. (2014111)
1991
29
Persistent hyperplastic primary vitreous with glaucoma presenting in infancy. (1867540)
1991
30
Persistent hyperplastic primary vitreous with vertical transmission. (2377350)
1990
31
Persistent hyperplastic primary vitreous in the right eye and congenital grouped pigmentation of the retina in the left. (2498796)
1989
32
Posterior persistent hyperplastic primary vitreous. (3377066)
1988
33
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. (3085500)
1986
34
Pediatric case of the day. Persistent hyperplastic primary vitreous. (3685512)
1986
35
Visual acuity results following treatment of persistent hyperplastic primary vitreous. (3707410)
1986
36
Treatment of persistent hyperplastic primary vitreous. (4045646)
1985
37
Changes in the contralateral eye in uncomplicated persistent hyperplastic primary vitreous in adults. (3881971)
1985
38
Morphological study on the human developing vitreous collagen fibrils and persistent hyperplastic primary vitreous. (3982784)
1985
39
Phacoanaphylactoid reaction in persistent hyperplastic primary vitreous. (3876535)
1985
40
Computed tomography for diagnosis of persistent hyperplastic primary vitreous (PHPV). (6877776)
1983
41
Persistent hyperplastic primary vitreous. Surgical treatment. (6877777)
1983
42
Persistent hyperplastic primary vitreous. (6879656)
1983
43
Microsurgery of persistent hyperplastic primary vitreous. (7145331)
1982
44
Persistent hyperplastic primary vitreous (PHPV in an adult--a case report). (7141585)
1982
45
Surgical management of persistent hyperplastic primary vitreous. (7343346)
1981
46
Persistent hyperplastic primary vitreous in a dog. (965282)
1976
47
Surgical excision of persistent hyperplastic primary vitreous. (5411527)
1970
48
Intraocular adipose tissue and persistent hyperplastic primary vitreous. (5791501)
1969
49
Persistent hyperplastic primary vitreous in an adult. A brief review of the literature and a histopathologic study. (6022739)
1967
50
Persistent hyperplastic primary vitreous; special reference to preretinal glial tissue as a pathological characteristic and to the development of the primary vitreous. (13497373)
1958

Variations for Persistent Hyperplastic Primary Vitreous

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Clinvar genetic disease variations for Persistent Hyperplastic Primary Vitreous:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATOH7NM_145178.3(ATOH7): c.146A> T (p.Glu49Val)single nucleotide variantPathogenicrs587777664GRCh37Chr 10, 69991289: 69991289
2ATOH7NM_145178.3(ATOH7): c.53delC (p.Pro18Argfs)deletionPathogenicrs587777665GRCh37Chr 10, 69991382: 69991382
3ATOH7NM_145178.3(ATOH7): c.136A> C (p.Asn46His)single nucleotide variantPathogenicrs587777666GRCh37Chr 10, 69991299: 69991299
4ATOH7NC_000010.11: g.68247363_68253885del6523deletionPathogenicGRCh38Chr 10, 68247363: 68253885

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:00056678.5FOXF2, HDAC9, PITX2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:003542610.7FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:006129910.7FZD4, NDP
3lacrimal gland developmentGO:003280810.4FOXC1, PAX6
4eye developmentGO:000165410.2FOXC1, PAX6
5iris morphogenesisGO:006107210.1PAX6, PITX2
6embryonic camera-type eye morphogenesisGO:00485969.8FOXF2, PAX6
7camera-type eye developmentGO:00430109.5FOXC1, PAX6, PITX2
8blood vessel developmentGO:00015689.5FOXC1, FZD4, PAX6
9chromatin modificationGO:00165689.5HDAC9, JMJD1C, KDM3B
10visual perceptionGO:00076019.4CRYAA, NDP, PAX6
11neuron differentiationGO:00301829.2FZD4, HDAC9, PITX2
12positive regulation of transcription, DNA-templatedGO:00458938.4CDKN2A, FOXC1, FOXF2, FZD4, NDP, PAX6
13transcription from RNA polymerase II promoterGO:00063668.0FOXC1, FOXF2, PAX6, PITX2
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.0CDKN2A, FOXC1, FOXF2, PAX6, PITX2
15regulation of transcription, DNA-templatedGO:00063557.3ATOH7, FOXC1, FOXF2, JMJD1C, KDM3B, PAX6

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

idNameGO IDScoreTop Affiliating Genes
1dioxygenase activityGO:005121310.3JMJD1C, KDM3B
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012288.9FOXC1, FOXF2, PAX6
3transcription factor bindingGO:00081347.2CDKN2A, FOXC1, FOXF2, HDAC9, PAX6, PITX2

Sources for Persistent Hyperplastic Primary Vitreous

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet