MCID: PRS062
MIFTS: 39

Persistent Hyperplastic Primary Vitreous malady

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

Summaries for Persistent Hyperplastic Primary Vitreous

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Wikipedia:63 Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental anomaly of the eye... more...

MalaCards based summary: Persistent Hyperplastic Primary Vitreous, also known as persistent fetal vasculature syndrome, is related to coats disease and norrie disease. An important gene associated with Persistent Hyperplastic Primary Vitreous is ATOH7 (atonal homolog 7 (Drosophila)), and among its related pathways are Pathways in cancer and HTLV-I infection. The compounds histidine and arginine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and pituitary, and related mouse phenotypes are no phenotypic analysis and digestive/alimentary.

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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Sources:
9Disease Ontology, 20GeneTests, 47Orphanet, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Persistent Hyperplastic Primary Vitreous, Aliases & Descriptions:

Name: Persistent Hyperplastic Primary Vitreous 9 20 47
Persistent Fetal Vasculature Syndrome 47
 
Phpv 47
Pfvs 47


Classifications:

Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
persistent hyperplastic primary vitreous:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0060282
MeSH33 D054514
Orphanet47 91495
MESH via Orphanet34 D054514
ICD10 via Orphanet26 Q14.0
UMLS via Orphanet61 C0266568

Related Diseases for Persistent Hyperplastic Primary Vitreous

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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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Drug clinical trials:

Search ClinicalTrials for Persistent Hyperplastic Primary Vitreous

Search NIH Clinical Center for 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 Vitreous20

Anatomical Context for Persistent Hyperplastic Primary Vitreous

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MalaCards organs/tissues related to Persistent Hyperplastic Primary Vitreous:

31
Eye, Retina, Pituitary

Animal Models for Persistent Hyperplastic Primary Vitreous or affiliated genes

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MGI Mouse Phenotypes related to Persistent Hyperplastic Primary Vitreous:

35 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.0CDKN2A, FZD4, NDP
2MP:00053818.7FOXC1, FZD4, CDKN2A
3MP:00053698.6FZD4, FOXC1, CDKN2A
4MP:00053908.6CDKN2A, FOXC1, NDP
5MP:00053868.6NDP, FZD4, ATOH7, CDKN2A
6MP:00028738.6FZD4, ATOH7, FOXC1
7MP:00053798.6FOXC1, CDKN2A, FZD4
8MP:00107718.4FZD4, FOXC1, CDKN2A
9MP:00053858.3NDP, FOXC1, FZD4, ATOH7
10MP:00011868.3FOXC1, FZD4, CDKN2A, NDP
11MP:00053848.3FOXC1, ATOH7, CDKN2A, FZD4
12MP:00053808.2CDKN2A, FOXC1, FZD4
13MP:00053917.8ATOH7, FZD4, FOXC1, NDP, CDKN2A
14MP:00053897.8ATOH7, FZD4, FOXC1, NDP, CDKN2A
15MP:00036317.8CDKN2A, NDP, FZD4, ATOH7, FOXC1

Publications for Persistent Hyperplastic Primary Vitreous

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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice. (24550361)
2014
2
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
3
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
4
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
5
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
6
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
7
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. (22946409)
2011
8
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
2010
9
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
10
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
11
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
12
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. (17630629)
2007
13
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
14
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
15
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. (16121558)
2005
16
Persistent hyperplastic primary vitreous. (12776904)
2003
17
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
18
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
19
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
20
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous. (10951297)
2000
21
Surgical results of persistent hyperplastic primary vitreous. (9951477)
1999
22
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. (10471898)
1999
23
Incising the thick retrolental fibrovascular tissue with a hooked sclerotome in persistent hyperplastic primary vitreous. (10574499)
1999
24
Persistent hyperplastic primary vitreous: MRI. (10450848)
1999
25
Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous. (9747677)
1998
26
Persistent hyperplastic primary vitreous in male twins. (9510656)
1997
27
Results of treatment of persistent hyperplastic primary vitreous. (2014111)
1991
28
Persistent hyperplastic primary vitreous with glaucoma presenting in infancy. (1867540)
1991
29
Persistent hyperplastic primary vitreous with vertical transmission. (2377350)
1990
30
Persistent hyperplastic primary vitreous in the right eye and congenital grouped pigmentation of the retina in the left. (2498796)
1989
31
Posterior persistent hyperplastic primary vitreous. (3377066)
1988
32
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. (3085500)
1986
33
Pediatric case of the day. Persistent hyperplastic primary vitreous. (3685512)
1986
34
Visual acuity results following treatment of persistent hyperplastic primary vitreous. (3707410)
1986
35
Treatment of persistent hyperplastic primary vitreous. (4045646)
1985
36
Changes in the contralateral eye in uncomplicated persistent hyperplastic primary vitreous in adults. (3881971)
1985
37
Morphological study on the human developing vitreous collagen fibrils and persistent hyperplastic primary vitreous. (3982784)
1985
38
Phacoanaphylactoid reaction in persistent hyperplastic primary vitreous. (3876535)
1985
39
Computed tomography for diagnosis of persistent hyperplastic primary vitreous (PHPV). (6877776)
1983
40
Persistent hyperplastic primary vitreous. Surgical treatment. (6877777)
1983
41
Persistent hyperplastic primary vitreous. (6879656)
1983
42
Management of persistent hyperplastic primary vitreous. (6639512)
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ATOH7NM_145178.3(ATOH7): c.146A> T (p.Glu49Val)single nucleotide variantPathogenicGRCh37Chr 10, 69991289: 69991289
2ATOH7ATOH7, 1-BP DEL, 53CdeletionPathogenic
3ATOH7NM_145178.3(ATOH7): c.136A> C (p.Asn46His)single nucleotide variantPathogenicGRCh37Chr 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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Pathways related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CDKN2A, FZD4
29.3CDKN2A, FZD4
3
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.3CDKN2A, FZD4
49.3CDKN2A, FZD4

Compounds for genes affiliated with Persistent Hyperplastic Primary Vitreous

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43Novoseek
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Compounds related to Persistent Hyperplastic Primary Vitreous according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1histidine439.3CDKN2A, FZD4
2arginine438.5CDKN2A, NDP, FZD4

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 9)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:00354269.5FZD4, NDP
2retina vasculature morphogenesis in camera-type eyeGO:00612999.5NDP, FZD4
3canonical Wnt signaling pathwayGO:00600709.4FZD4, NDP
4positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.4NDP, FZD4
5sensory perception of soundGO:00076059.2FZD4, NDP
6Wnt signaling pathwayGO:00160559.0FZD4, NDP
7embryo developmentGO:00097909.0FZD4, FOXC1
8brain developmentGO:00074209.0FZD4, FOXC1
9positive regulation of transcription, DNA-templatedGO:00458938.2CDKN2A, FZD4, FOXC1, NDP

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:00081348.8CDKN2A, FOXC1
2DNA bindingGO:00036778.7CDKN2A, FOXC1, ATOH7

Products for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Sources for Persistent Hyperplastic Primary Vitreous

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet