{"Name":"Isolated microphthalmia 5","DiseaseID__c":"GARD:0017205","id":17205,"encodedName":"isolated-microphthalmia-5","IsDeleted":false,"Disease_Name_Full__c":"Isolated microphthalmia 5","Xref_IDs__c":"C1970236; C567024; DOID:0060837; MEDGEN:410021; MONDO:0012605; OMIM:611040; ORPHA:251279","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012605","Disease_Description__c":"Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.","GARD_Name__c":"Isolated microphthalmia 5","GARD_Synonym__c":"isolated microphthalmia caused by mutation in mfrp; isolated microphthalmia type 5; mcop5; mfrp isolated microphthalmia; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome; microphthalmia, isolated type 5; nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen; posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen","Curated_Disease_Description_Source__c":"ORPHA:251279","Curated_Disease_Description__c":"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:251279","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012605","ORPHANET_ID__c":"ORPHA:251279","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microftalmia-retinosis pigmentaria-foveosquisis-drusas del disco óptico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de microftalmia-retinosis pigmentaria-foveosquisis-drusas del disco óptico","Spanish_GARD_Synonym__c":"síndrome de nanoftalmia-retinosis pigmentaria-foveosquisis-drusen del disco óptico","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":"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.","Curated_Disease_Description_Source__c":"ORPHA:251279","GARD_Synonym__c":"isolated microphthalmia caused by mutation in mfrp; isolated microphthalmia type 5; mcop5; mfrp isolated microphthalmia; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome; microphthalmia, isolated type 5; nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen; posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen","Name":"Isolated microphthalmia 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Microphthalmia, Anophthalmia & Coloboma Support","Website__c":"https://macs.org.uk/"}],"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":"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:251279"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=410021","Source__c":"C1970236","Xref__c":"MEDGEN:410021"},{"URL__c":"https://www.orpha.net/en/disease/detail/251279","Source__c":"C1970236; MONDO:0012605","Xref__c":"ORPHA:251279"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970236","Source__c":"C1970236","Xref__c":"C1970236"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060837","Source__c":"MONDO:0012605","Xref__c":"DOID:0060837"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567024","Source__c":"MONDO:0012605","Xref__c":"C567024"},{"URL__c":"https://www.omim.org/entry/611040","Source__c":"C1970236; MONDO:0012605; ORPHA:251279","Xref__c":"OMIM:611040"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012605","Source__c":"GARD:0017205","Xref__c":"MONDO:0012605"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MFRP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007737","HPO_Synonym__c":"Bone corpuscle fundus pigmentation; Bone spicule pigmentation of the retina; Fundus with peripheral bony spicules; Retinal bone corpuscle pigmentation; Retinal pigmented bone spicules","HPO_Name__c":"Spicular pigmentation of the retina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012426","HPO_Synonym__c":"Optic nerve head drusen","HPO_Name__c":"Optic disc drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","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":"OMIM:611040","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":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the combined rod-and-cone response on electroretinogram.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008323","HPO_Synonym__c":"Abnormal rod and cone electroretinogram","HPO_Name__c":"Abnormal light- and dark-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Splitting of the retinal layers in the macula and involving the fovea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012152","HPO_Synonym__c":"Retinoschisis involving the fovea","HPO_Name__c":"Foveoschisis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased dimension of the sclera in the anterior-posterior axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030823","HPO_Synonym__c":"Thick sclera","HPO_Name__c":"Scleral thickening","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of hypermetropia with over +5.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008499","HPO_Synonym__c":"High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness","HPO_Name__c":"High hypermetropia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["isolated microphthalmia caused by mutation in mfrp"," isolated microphthalmia type 5"," mcop5"," mfrp isolated microphthalmia"," microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"," microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome"," microphthalmia, isolated type 5"," nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"," nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome"," nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"," posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen"," posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen"," posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen"]}