{"Name":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","DiseaseID__c":"GARD:0010938","id":10938,"encodedName":"microcornea-posterior-megalolenticonus-persistent-fetal-vasculature-coloboma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","Xref_IDs__c":"C4751163; MEDGEN:1667341; MONDO:0016509; ORPHA:231736","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:231736","Disease_Description__c":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.","GARD_Name__c":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","GARD_Synonym__c":"microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome; mppc (microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma) syndrome; mppc syndrome","Curated_Disease_Description_Source__c":"ORPHA:231736","Curated_Disease_Description__c":"A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231736","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016509","ORPHANET_ID__c":"ORPHA:231736","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microcórnea-megalolenticonus posterior-persistencia de la vasculatura fetal-coloboma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de microcórnea-megalolenticonus posterior-persistencia de la vasculatura fetal-coloboma","Spanish_GARD_Synonym__c":"síndrome mpcc","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 developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.","Curated_Disease_Description_Source__c":"ORPHA:231736","GARD_Synonym__c":"microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome; mppc (microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma) syndrome; mppc syndrome","Name":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syn","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pediatric Retinal Research Foundation","Website__c":"https://www.pediatricrrf.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Infancy","Provided_By__c":"ORPHA:231736"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231736"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1667341","Source__c":"C4751163","Xref__c":"MEDGEN:1667341"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751163","Source__c":"C4751163","Xref__c":"C4751163"},{"URL__c":"https://www.orpha.net/en/disease/detail/231736","Source__c":"C4751163; MONDO:0016509; ORPHA:231736","Xref__c":"ORPHA:231736"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773690008","Source__c":"C4751163","Xref__c":"773690008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016509","Source__c":"GARD:0010938","Xref__c":"MONDO:0016509"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231736","HPO_Frequency__c":"Occasional (5-29%)","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:231736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000556","HPO_Synonym__c":"Breakdown of light-sensitive cells in back of eye","HPO_Name__c":"Retinal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231736","HPO_Frequency__c":"Very frequent (80-99%)","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:231736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231736","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011502","HPO_Name__c":"Posterior lenticonus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231736","HPO_Frequency__c":"Very frequent (80-99%)","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:231736","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Anterior segment of Eye","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome"," mppc (microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma) syndrome"," mppc syndrome"]}