MCID: PRS062
MIFTS: 39

Persistent Hyperplastic Primary Vitreous malady

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

Aliases & Classifications for Persistent Hyperplastic Primary Vitreous

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Sources:
10Disease Ontology, 22GeneTests, 12DISEASES, 51Orphanet, 36MeSH, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:0060282
MeSH36 D054514
Orphanet51 91495
ICD10 via Orphanet28 Q14.0
MESH via Orphanet37 D054514
UMLS via Orphanet66 C0266568
UMLS65 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 persistent hyperplastic primary vitreous, autosomal recessive and pancreatitis. An important gene associated with Persistent Hyperplastic Primary Vitreous is ATOH7 (Atonal BHLH Transcription Factor 7). Affiliated tissues include eye, endothelial and liver, and related mouse phenotypes are pigmentation and digestive/alimentary.

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 142)
idRelated DiseaseScoreTop Affiliating Genes
1persistent hyperplastic primary vitreous, autosomal recessive13.0
2pancreatitis10.5
3cerebritis10.5
4endotheliitis10.5
5breast cancer10.4
6pancreatic cancer10.4
7hepatitis10.4
8leukemia10.4
9germinoma10.4
10retina lymphoma10.4FZD4, NDP
11hypospadias10.3
12glioblastoma10.3
13delusional disorder10.3FZD4, NDP
14hyperostosis, endosteal10.3FZD4, NDP
15glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.3FOXC1, PAX6
16coloboma, ocular10.2ATOH7, PAX6
17acute contagious conjunctivitis10.2FOXC1, HDAC9
18intraocular retinoblastoma10.2HDAC9, NDP
19lung cancer10.2
20prostate cancer10.2
21hepatocellular carcinoma10.2
22obesity10.2
23allergic rhinitis10.2
24cystic fibrosis10.2
25chondrosarcoma10.2
26lymphangioleiomyomatosis10.2
27autoimmune lymphoproliferative syndrome10.2
28keratitis10.2
29meconium ileus10.2
30borjeson-forssman-lehmann syndrome10.2
31stargardt disease10.2
32deficiency anemia10.2
33pulmonary hypertension10.2
34adult respiratory distress syndrome10.2
35arteriovenous fistula10.2
36burns10.2
37congestive heart failure10.2
38hematopoietic stem cell transplantation10.2
39paroxysmal nocturnal hemoglobinuria10.2
40spinal muscular atrophy10.2
41spondylolisthesis10.2
42hypophosphatemia10.2
43pachyonychia congenita10.2
44small cell carcinoma10.2
45artery disease10.2
46kleine-levin syndrome10.2
47ectopic pregnancy10.2
48mumps10.2
49lymphoblastic leukemia10.2
50amblyopia10.2

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, Endothelial, Liver, Colon, Prostate, Lung, T cells

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 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8CDKN2A, FOXC1, FZD4, NDP, PAX6, PITX2
2MP:00053818.5CDKN2A, FOXC1, FOXF2, FZD4, PAX6, PITX2
3MP:00053698.4CDKN2A, FOXC1, FZD4, HDAC9, PAX6, PITX2
4MP:00053798.3CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C, PAX6
5MP:00053898.1ATOH7, CDKN2A, FOXC1, FZD4, JMJD1C, NDP
6MP:00053847.9ATOH7, CADPS2, CDKN2A, FOXC1, FZD4, JMJD1C
7MP:00053857.8ATOH7, CDKN2A, FOXC1, FZD4, HDAC9, NDP
8MP:00053907.8CDKN2A, FOXC1, FOXF2, JMJD1C, NDP, PAX6
9MP:00036317.6ATOH7, CADPS2, CDKN2A, FOXC1, FOXF2, FZD4
10MP:00053917.6ATOH7, CDKN2A, FOXC1, FOXF2, FZD4, JMJD1C

Publications for Persistent Hyperplastic Primary Vitreous

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Articles related to Persistent Hyperplastic Primary Vitreous:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Epidemiology of urban dog-related injuries requiring rabies post-exposure prophylaxis in Marseille, France. (23116608)
2013
2
The transverse colon cancer with the reversed rotation of the midgut treated with single incision laparoscopic colectomy. (24426562)
2013
3
Demonstrating measurement equivalence of the electronic and paper formats of the Urticaria Patient Daily Diary in patients with chronic idiopathic urticaria. (23918000)
2013
4
The diagnostic value of adiponectin multimers in healthy men undergoing screening for prostate cancer. (24296854)
2013
5
The health benefits of dietary fiber: beyond the usual suspects of type 2 diabetes mellitus, cardiovascular disease and colon cancer. (22401879)
2012
6
Treatment of neurogenic diabetes insipidus. (22071315)
2011
7
Descemet stripping automated endothelial keratoplasty combined with phacoemulsification in Chandler syndrome. (21218389)
2011
8
Tenocyte hypercellularity and vascular proliferation in a rabbit model of tendinopathy: contralateral effects suggest the involvement of central neuronal mechanisms. (20605910)
2011
9
Computer-aided surgical planning in the treatment of soft-tissue sarcoma. (20659359)
2010
10
Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database. (21155023)
2010
11
Lysosomal storage disease: revealing lysosomal function and physiology. (20430954)
2010
12
Molecular characterization of SMILE as a novel corepressor of nuclear receptors. (19429690)
2009
13
Activation of NF-kappaB by palmitate in endothelial cells: a key role for NADPH oxidase-derived superoxide in response to TLR4 activation. (19542021)
2009
14
DeltaNp63 isoforms differentially regulate gene expression in squamous cell carcinoma: identification of Cox-2 as a novel p63 target. (19391123)
2009
15
Superior mesenteric artery syndrome: a rare cause of duodenal obstruction. Cases reports and review of literature. (18711995)
2008
16
Granzyme A causes detachment of alveolar epithelial A549 cells accompanied by promotion of interleukin-8 release. (18776661)
2008
17
Differential expression of hormonal and growth factor receptors in salivary duct carcinomas: biologic significance and potential role in therapeutic stratification of patients. (18059220)
2007
18
Loss of zona pellucida binding proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis. (17664285)
2007
19
Suppression of VEGF-mediated autocrine and paracrine interactions between prostate cancer cells and vascular endothelial cells by soy isoflavones. (17142033)
2007
20
Safety and efficacy of extended-release niacin for the treatment of dyslipidaemia in patients with HIV infection: AIDS Clinical Trials Group Study A5148. (17302378)
2006
21
Excess of nonceruloplasmin serum copper in AD correlates with MMSE, CSF [beta]-amyloid, and h-tau. (16832081)
2006
22
Comparison of RANTES expression in Crohn's disease and ulcerative colitis: an aid in the differential diagnosis? (16565224)
2006
23
Growth of benign and malignant schwannoma xenografts in severe combined immunodeficiency mice. (17075413)
2006
24
Polyostotic primary bone lymphoma with progression limited in the skeleton: Identical clonal origin of the initial and progressed tumors and a late relapse by VDJ rearrangement analysis. (16840208)
2006
25
A systematic review of large scale and heterogeneous gene array data in heart failure. (15733902)
2005
26
Perivascular clustering in temporal lobe epilepsy: oligodendroglial cells of unknown function. (15480711)
2004
27
Effect of a tyrosine kinase inhibitor STI571 in a patient with hepatic metastases from a duodenal gastrointestinal stromal tumor. (12898363)
2003
28
Molecular mechanisms for the activation of Ca2+-permeable nonselective cation channels by endothelin-1 in C6 glioma cells. (12732355)
2003
29
Sensory neurons with activated caspase-3 survive long-term experimental diabetes. (12941777)
2003
30
Comments on angiokeratoma of the tongue. (17656958)
2002
31
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. (11916311)
2002
32
Early gonadal development: exploring Wt1 and Sox9 function. (11990794)
2002
33
Death of CD4(+) T-cell lines caused by human immunodeficiency virus type 1 does not depend on caspases or apoptosis. (11967325)
2002
34
Diacylglycerol kinase gamma is one of the specific receptors of tumor-promoting phorbol esters. (11716494)
2001
35
Characterization of the major metabolites of verapamil as substrates and inhibitors of P-glycoprotein. (10773005)
2000
36
Extension of a pilot study: impact from the cytochrome P450 2D6 polymorphism on outcome and costs associated with severe mental illness. (10770465)
2000
37
Reduced expression of brain-derived neurotrophic factor protein in Parkinson's disease substantia nigra. (10208589)
1999
38
Dehydroepiandrosterone in the treatment of erectile dysfunction: a prospective, double-blind, randomized, placebo-controlled study. (10096389)
1999
39
O- and N-demethylation of venlafaxine in vitro by human liver microsomes and by microsomes from cDNA-transfected cells: effect of metabolic inhibitors and SSRI antidepressants. (10192828)
1999
40
Management of labyrinthine fistula in middle ear cholesteatoma. (9519688)
1998
41
Giant cell collagenoma: a benign dermal tumor with distinctive multinucleate cells. (9591725)
1998
42
Discordant expression of mRNA and protein for urokinase and tissue plasminogen activators (u-PA, t-PA) in endometrial carcinoma. (9583736)
1998
43
Sphingosine-1-phosphate as a ligand for the G protein-coupled receptor EDG-1. (9488656)
1998
44
Prognostic significance of molecular alterations in human pancreatic carcinoma--an immunohistological study. (9641888)
1998
45
Hepatopulmonary syndrome: the paradigm of liver-induced hypoxaemia. (9395754)
1997
46
A unilateral hydrothorax as the only manifestation of ovarian hyperstimulation syndrome: a case report. (8941073)
1996
47
Analysis of molluscum contagiosum virus genomes isolated in Japan. (7595411)
1995
48
Sick building syndrome--know your ventilation rates. (10126689)
1993
49
Physiological roles of ketone bodies as substrates and signals in mammalian tissues. (6986618)
1980
50
Letter: Gender identity and hermaphroditism. (1251201)
1976

Variations for Persistent Hyperplastic Primary Vitreous

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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
1cytoplasmic, membrane-bounded vesicleGO:00160239.8CADPS2, FNBP1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:000165410.1FOXC1, PAX6
2camera-type eye developmentGO:004301010.0FOXC1, PITX2
3blood vessel developmentGO:000156810.0FOXC1, FZD4, PAX6
4embryonic camera-type eye morphogenesisGO:00485969.8FOXF2, PAX6
5Wnt signaling pathwayGO:00160559.3FZD4, NDP, PITX2
6heart developmentGO:00075079.3FOXC1, HDAC9, PITX2
7positive regulation of transcription, DNA-templatedGO:00458938.6CDKN2A, FOXC1, FOXF2, PAX6, PITX2
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.0CDKN2A, FOXC1, FOXF2, 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