eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| persistent hyperplastic primary vitreous | ||||
| Disease ID | 724 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0266568 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0086543 | cataract | 6 C0035305 | retinal detachment | 2 C1853235 | sclerocornea | 1 C0015397 | ocular disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 220202 | ATOH7 | 3.013 | DISEASES 93664 | CADPS2 | 3.785 | DISEASES 1029 | CDKN2A | 1.595 | DISEASES 100048912 | CDKN2B-AS1 | 2.234 | DISEASES 10370 | CITED2 | 2.694 | DISEASES 152330 | CNTN4 | 3.006 | DISEASES 7913 | DEK | 2.281 | DISEASES 2022 | ENG | 1.12 | DISEASES 2316 | FLNA | 1.271 | DISEASES 23048 | FNBP1 | 3.604 | DISEASES 2296 | FOXC1 | 4.019 | DISEASES 2308 | FOXO1 | 1.061 | DISEASES 8322 | FZD4 | 3.332 | DISEASES 7855 | FZD5 | 3.005 | DISEASES 9573 | GDF3 | 2.974 | DISEASES 3052 | HCCS | 1.501 | DISEASES 221037 | JMJD1C | 3.507 | DISEASES 55818 | KDM3A | 2.9 | DISEASES 51780 | KDM3B | 3.712 | DISEASES 3796 | KIF2A | 3.57 | DISEASES 89782 | LMLN | 3.447 | DISEASES 4908 | NTF3 | 1.761 | DISEASES 5015 | OTX2 | 2.298 | DISEASES 5076 | PAX2 | 1.704 | DISEASES 5080 | PAX6 | 3.873 | DISEASES 5155 | PDGFB | 1.291 | DISEASES 11145 | PLA2G16 | 2.692 | DISEASES 7042 | TGFB2 | 2.225 | DISEASES 7068 | THRB | 1.869 | DISEASES 9322 | TRIP10 | 3.075 | DISEASES 10587 | TXNRD2 | 2.168 | DISEASES 7422 | VEGFA | 1.926 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 724 |
|---|---|
| Disease | persistent hyperplastic primary vitreous |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0000518 | Cataract | 7 HP:0000541 | Detached retina | 2 HP:0001331 | Agenesis of the septum pellucidum | 1 HP:0010922 | Membranous cataract | 1 HP:0000568 | Abnormally small globe of eye | 1 HP:0000519 | Cataracts, lenticular, bilateral | 1 HP:0007968 | Persistent fetal vasculature | 1 HP:0100014 | Macular pucker | 1 HP:0000647 | Sclerocornea | 1 HP:0011527 | Lentiglobus | 1 HP:0100842 | Septo-optic dysplasia | 1 HP:0007700 | Anterior segment dysgenesis | 1 |
| Disease ID | 724 |
|---|---|
| Disease | persistent hyperplastic primary vitreous |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 724 |
|---|---|
| Disease | persistent hyperplastic primary vitreous |
| Case | (Waiting for update.) |