{"Name":"Persistent hyperplastic primary vitreous","DiseaseID__c":"GARD:0016803","id":16803,"encodedName":"persistent-hyperplastic-primary-vitreous","IsDeleted":false,"Disease_Name_Full__c":"Persistent hyperplastic primary vitreous","Xref_IDs__c":"314270008; C0266568; C161554; D054514; DOID:0060282; MEDGEN:120583; MONDO:0019631; OMIMPS:221900; ORPHA:91495","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019631","Disease_Description__c":"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.)","GARD_Name__c":"Persistent hyperplastic primary vitreous","GARD_Synonym__c":"congenital retinal detachment; congenital retinal septum; ncrna disease; non-syndromic congenital retinal non-attachment; persistent fetal vasculature; persistent fetal vasculature syndrome; persistent foetal vasculature; persistent foetal vasculature syndrome; persistent hyaloid artery; persistent hyperplasia of primary vitreous; persistent hypertrophic primary vitreous; persistent posterior fetal fibrovascular sheath of the lens; persistent posterior foetal fibrovascular sheath of the lens; persistent tunica vasculosa lentis; pfvs; phpv; phpv - persistent hyperplastic primary vitreous; remnants of the hyaloid vascular system","Curated_Disease_Description_Source__c":"ORPHA:91495","Curated_Disease_Description__c":"A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:91495","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019631","ORPHANET_ID__c":"ORPHA:91495","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Vítreo primario hiperplásico persistente","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"vítreo primario hiperplásico persistente","Spanish_GARD_Synonym__c":"desprendimiento de retina congénito; enfermedad ncrna; falta de adhesión de la retina congénita no sindrómica; persistencia hiperplásica de vítreo primario; pfvs; síndrome de persistencia de la vascularización fetal; vphp","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","Curated_Disease_Description_Source__c":"ORPHA:91495","GARD_Synonym__c":"congenital retinal detachment; congenital retinal septum; ncrna disease; non-syndromic congenital retinal non-attachment; persistent fetal vasculature; persistent fetal vasculature syndrome; persistent foetal vasculature; persistent foetal vasculature syndrome; persistent hyaloid artery; persistent hyperplasia of primary vitreous; persistent hypertrophic primary vitreous; persistent posterior fetal fibrovascular sheath of the lens; persistent posterior foetal fibrovascular sheath of the lens; persistent tunica vasculosa lentis; pfvs; phpv; phpv - persistent hyperplastic primary vitreous; remnants of the hyaloid vascular system","Name":"Persistent hyperplastic primary vitreous","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91495"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:91495"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266568","Source__c":"C0266568","Xref__c":"C0266568"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054514","Source__c":"C0266568; MONDO:0019631","Xref__c":"D054514"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060282","Source__c":"MONDO:0019631","Xref__c":"DOID:0060282"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS221900","Source__c":"MONDO:0019631","Xref__c":"OMIMPS:221900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120583","Source__c":"C0266568","Xref__c":"MEDGEN:120583"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=314270008","Source__c":"C0266568; MONDO:0019631","Xref__c":"314270008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C161554","Source__c":"C0266568; MONDO:0019631","Xref__c":"C161554"},{"URL__c":"https://www.orpha.net/en/disease/detail/91495","Source__c":"C0266568; MONDO:0019631; ORPHA:91495","Xref__c":"ORPHA:91495"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44647001","Source__c":"C0266568","Xref__c":"44647001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007968","Source__c":"C0266568","Xref__c":"HP:0007968"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019631","Source__c":"GARD:0016803","Xref__c":"MONDO:0019631"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FZD4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fzd4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NDP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ndp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATOH7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030744","HPO_Name__c":"Hyaloid vascular remnant and retrolental mass","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diffusely large eye (with megalocornea) associated with glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000557","HPO_Synonym__c":"Enlarged eyeball","HPO_Name__c":"Buphthalmos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000594","HPO_Name__c":"Shallow anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistence of a posterior remnant of the hyaloid artery located at the optic disc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030743","HPO_Synonym__c":"Bergmeister papilla","HPO_Name__c":"Glial remnants anterior to the optic disc","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal white reflection from the pupil rather than the usual black reflection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000555","HPO_Synonym__c":"Leukokoria; White pupillary reflex","HPO_Name__c":"Leukocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding from vessels of the various tissues of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011885","HPO_Synonym__c":"Bleeding from the eye","HPO_Name__c":"Hemorrhage of the eye","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000667","HPO_Name__c":"Phthisis bulbi","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007917","HPO_Name__c":"Tractional retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012109","HPO_Synonym__c":"Closed-angle glaucoma; Narrow angle glaucoma","HPO_Name__c":"Angle closure glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008052","HPO_Synonym__c":"Retinal folds","HPO_Name__c":"Retinal fold","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009917","HPO_Name__c":"Persistent pupillary membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007968","HPO_Synonym__c":"Congenital retinal septum; Persistent fetal vasculature; Persistent hyperplasia of primary vitreous; Persistent hyperplastic primary vitreous; Persistent hypertrophic primary vitreous; Persistent posterior fetal fibrovascular sheath of the lens; Persistent tunica vasculosa lentis","HPO_Name__c":"Remnants of the hyaloid vascular system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91495","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001104","HPO_Name__c":"Macular hypoplasia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["congenital retinal detachment"," congenital retinal septum"," ncrna disease"," non-syndromic congenital retinal non-attachment"," persistent fetal vasculature"," persistent fetal vasculature syndrome"," persistent foetal vasculature"," persistent foetal vasculature syndrome"," persistent hyaloid artery"," persistent hyperplasia of primary vitreous"," persistent hypertrophic primary vitreous"," persistent posterior fetal fibrovascular sheath of the lens"," persistent posterior foetal fibrovascular sheath of the lens"," persistent tunica vasculosa lentis"," pfvs"," phpv"," phpv - persistent hyperplastic primary vitreous"," remnants of the hyaloid vascular system"]}