{"Name":"Cataract - microcornea syndrome","DiseaseID__c":"GARD:0001155","id":1155,"encodedName":"cataract-microcornea-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cataract - microcornea syndrome","Xref_IDs__c":"C538287; CN293942; MEDGEN:978106; MONDO:0015300; ORPHA:1377","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015300","Disease_Description__c":"A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.","GARD_Name__c":"Cataract - microcornea syndrome","GARD_Synonym__c":"cataract-microcornea syndrome; ccmc; congenital cataract-microcornea syndrome","Curated_Disease_Description_Source__c":"MONDO:0015300","Curated_Disease_Description__c":"A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1377","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015300","ORPHANET_ID__c":"ORPHA:1377","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de catarata-microcórnea","Spanish_Description_Source__c":"ORPHA:1377","Spanish_Description__c":"Es una catarata sindrómica de origen genético y poco común caracterizada por la asociación de catarata congénita y microcórnea sin ninguna otra anomalía o dismorfia sistémicas. Los hallazgos clínicos incluyen una disminución del diámetro corneal (inferior a 10 mm) en ambos meridianos en un ojo por lo demás normal, y una catarata hereditaria, que es principalmente polar posterior, bilateral, con opacificación en la periferia del cristalino que progresa hasta formar una catarata total una vez alcanzada la madurez visual. Puede asociar otras manifestaciones oculares, como miopía, coloboma del iris, esclerocórnea y anomalía de Peters.","Spanish_Disease_Name__c":"síndrome de catarata-microcórnea","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.","Curated_Disease_Description_Source__c":"MONDO:0015300","GARD_Synonym__c":"cataract-microcornea syndrome; ccmc; congenital cataract-microcornea syndrome","Name":"Cataract - microcornea syndrome","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":"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:1377"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001155","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1377","Source__c":"CN293942; MONDO:0015300","Xref__c":"ORPHA:1377"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538287","Source__c":"MONDO:0015300","Xref__c":"C538287"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN293942","Source__c":"CN293942","Xref__c":"CN293942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=978106","Source__c":"CN293942","Xref__c":"MEDGEN:978106"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015300","Source__c":"GARD:0001155","Xref__c":"MONDO:0015300"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRYBA4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYGC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MAF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYGD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYAA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYBB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRYBB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GJA8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1377","HPO_Frequency__c":"Occasional (5-29%)","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:1377","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:1377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1377","HPO_Frequency__c":"Occasional (5-29%)","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:1377","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cataract-microcornea syndrome"," ccmc"," congenital cataract-microcornea syndrome"]}