MCID: PRS062
MIFTS: 32

Persistent Hyperplastic Primary Vitreous malady

Genetic diseases (common) category
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Summaries for Persistent Hyperplastic Primary Vitreous

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Wikipedia:65 Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental anomaly of the eye... more...

MalaCards based summary: Persistent Hyperplastic Primary Vitreous is related to cataract and persistent hyperplastic primary vitreous, autosomal recessive. An important gene associated with Persistent Hyperplastic Primary Vitreous is FOXC1 (forkhead box C1). The compound threonine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and pituitary, and related mouse phenotypes are pigmentation and liver/biliary system.

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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Persistent Hyperplastic Primary Vitreous, Aliases & Descriptions:

Name: Persistent Hyperplastic Primary Vitreous 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4CDKN2A, FOXC1
2MP:00053709.3CDKN2A, FOXC1
3MP:00053889.3FOXC1, CDKN2A
4MP:00053819.3CDKN2A, FOXC1
5MP:00053919.2CDKN2A, FOXC1
6MP:00053699.2FOXC1, CDKN2A
7MP:00053799.1CDKN2A, FOXC1
8MP:00053809.1CDKN2A, FOXC1
9MP:00053909.0CDKN2A, FOXC1
10MP:00107718.8CDKN2A, FOXC1

Publications for Persistent Hyperplastic Primary Vitreous

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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 132)
idTitleAuthorsYear
1
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma. (23305436)
2013
2
Prepapillary vascular loop associated with persistent hyperplastic primary vitreous. (23762694)
2013
3
Nine genes that may contribute to partial trisomy (6)(p22a89pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. (22407547)
2012
4
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. (23569541)
2012
5
Approach to cataract with persistent hyperplastic primary vitreous. (21782083)
2011
6
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous. (22946409)
2011
7
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. (19461663)
2010
8
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
9
Bilateral persistent hyperplastic primary vitreous. (19075412)
2009
10
Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous. (18634129)
2008
11
Emmetropization after lensectomy and anterior vitrectomy for persistent hyperplastic primary vitreous cataract. (17630629)
2007
12
Long-term visual function and relative amblyopia in posterior persistent hyperplastic primary vitreous (PHPV). (16760119)
2006
13
Persistent hyperplastic primary vitreous in transgenic mice expressing IE180 of the pseudorabies virus. (15851549)
2005
14
Persistent hyperplastic primary vitreous in association with neurofibromatosis 2. (16121558)
2005
15
Persistent hyperplastic primary vitreous. (12776904)
2003
16
Unilateral persistent hyperplastic primary vitreous: course and outcome. (11997805)
2002
17
Choroidal osteoma in a patient with contralateral persistent hyperplastic primary vitreous. (12055473)
2002
18
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous. (11734512)
2001
19
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous. (10951297)
2000
20
Surgical results of persistent hyperplastic primary vitreous. (9951477)
1999
21
Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous. (10471898)
1999
22
Incising the thick retrolental fibrovascular tissue with a hooked sclerotome in persistent hyperplastic primary vitreous. (10574499)
1999
23
Persistent hyperplastic primary vitreous: MRI. (10450848)
1999
24
Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous. (9747677)
1998
25
Persistent hyperplastic primary vitreous in male twins. (9510656)
1997
26
Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). LIV Edward Jackson Memorial Lecture. (9372715)
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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Expression for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Expression patterns in normal tissues for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Pathways for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Compounds for genes affiliated with Persistent Hyperplastic Primary Vitreous

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Compounds related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1threonine449.1CDKN2A, FOXC1

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057309.1CDKN2A, FOXC1

Biological processes related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459449.1CDKN2A, FOXC1
2positive regulation of transcription, DNA-templatedGO:0458938.8CDKN2A, FOXC1

Molecular functions related to Persistent Hyperplastic Primary Vitreous according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036779.1CDKN2A, FOXC1
2transcription factor bindingGO:0081348.8CDKN2A, FOXC1

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet