PedAM

Pediatric Disease Annotations & Medicines


	persistent hyperplastic primary vitreous

Disease ID	420
Disease	persistent hyperplastic primary vitreous
Definition	A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)
Synonym	congenital retinal septum persistent fetal vasculature persistent hyaloid arteries persistent hyaloid artery persistent hyaloid artery (disorder) persistent hyaloid vasculature persistent hyaloid vasculatures persistent hyperplasia of primary vitreous persistent hyperplastic primary vitreous (disorder) persistent hyperplastic primary vitreous [disease/finding] persistent hypertrophic primary vitreous persistent posterior fetal fibrovascular sheath of the lens phpv phpv - persistent hyperplastic primary vitreous remnants of the hyaloid vascular system
Orphanet	ORPHANET:91495
OMIM	OMIM:221900
DOID	DOID:0060282
UMLS	C0266568
MeSH	D054514
SNOMED-CT	SNOMEDCT_US_2016_09_01:44647001;SNOMEDCT_US_2016_09_01:314270008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0086543 \| cataract \| 2 C0015397 \| ocular disease \| 1 C0035305 \| retinal detachment \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) NDP \| 4693 \| ORPHANET FZD4 \| 8322 \| ORPHANET ATOH7 \| 220202 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:56) 100048912 \| CDKN2B-AS1 \| DISEASES 5351 \| PLOD1 \| DISEASES 4282 \| MIF \| DISEASES 23554 \| TSPAN12 \| DISEASES 1958 \| EGR1 \| DISEASES 1959 \| EGR2 \| DISEASES 51299 \| NRN1 \| DISEASES 2295 \| FOXF2 \| DISEASES 6496 \| SIX3 \| DISEASES 23314 \| SATB2 \| DISEASES 4087 \| SMAD2 \| DISEASES 1871 \| E2F3 \| DISEASES 10133 \| OPTN \| DISEASES 7301 \| TYRO3 \| DISEASES 3791 \| KDR \| DISEASES 7157 \| TP53 \| DISEASES 805 \| CALM2 \| DISEASES 1030 \| CDKN2B \| DISEASES 26060 \| APPL1 \| DISEASES 1409 \| CRYAA \| DISEASES 4041 \| LRP5 \| DISEASES 94234 \| FOXQ1 \| DISEASES 9317 \| PTER \| DISEASES 9318 \| COPS2 \| DISEASES 5308 \| PITX2 \| DISEASES 11145 \| PLA2G16 \| DISEASES 9322 \| TRIP10 \| DISEASES 55818 \| KDM3A \| DISEASES 51780 \| KDM3B \| DISEASES 3052 \| HCCS \| DISEASES 5155 \| PDGFB \| DISEASES 9573 \| GDF3 \| DISEASES 5015 \| OTX2 \| DISEASES 7068 \| THRB \| DISEASES 7855 \| FZD5 \| DISEASES 7042 \| TGFB2 \| DISEASES 10370 \| CITED2 \| DISEASES 2316 \| FLNA \| DISEASES 7422 \| VEGFA \| DISEASES 2022 \| ENG \| DISEASES 220202 \| ATOH7 \| DISEASES 5080 \| PAX6 \| DISEASES 2308 \| FOXO1 \| DISEASES 2296 \| FOXC1 \| DISEASES 7913 \| DEK \| DISEASES 152330 \| CNTN4 \| DISEASES 221037 \| JMJD1C \| DISEASES 10587 \| TXNRD2 \| DISEASES 3796 \| KIF2A \| DISEASES 1029 \| CDKN2A \| DISEASES 5076 \| PAX2 \| DISEASES 4908 \| NTF3 \| DISEASES 93664 \| CADPS2 \| DISEASES 89782 \| LMLN \| DISEASES 23048 \| FNBP1 \| DISEASES 8322 \| FZD4 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) NDP \| Xp11.3 FZD4 \| 11q14.2 ATOH7 \| 10q21.3

Disease ID	420
Disease	persistent hyperplastic primary vitreous
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0000518 \| Cataract \| 2 HP:0000541 \| Detached retina \| 1

Disease ID	420
Disease	persistent hyperplastic primary vitreous
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111699024	22645276	220202	ATOH7	umls:C0266568	BeFree	We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p.Arg65Gly) in one of five sporadic ONA patients.	0.120271442	2012	ATOH7	10	68231485	T	C,G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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