{"Name":"Colobomatous macrophthalmia-microcornea syndrome","DiseaseID__c":"GARD:0017844","id":17844,"encodedName":"colobomatous-macrophthalmia-microcornea-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Colobomatous macrophthalmia-microcornea syndrome","Xref_IDs__c":"C1865286; C566533; MEDGEN:400728; MONDO:0011239; OMIM:602499; ORPHA:468672","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"ORPHA:468672","Disease_Description__c":"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.","GARD_Name__c":"Colobomatous macrophthalmia-microcornea syndrome","GARD_Synonym__c":"colobomatous macrophthalmia with microcornea syndrome; macom (macrophthalmia colobomatous with microcornea) syndrome; macom syndrome; macrophthalmia, colobomatous, with microcornea","Curated_Disease_Description_Source__c":"ORPHA:468672","Curated_Disease_Description__c":"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:468672","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011239","ORPHANET_ID__c":"ORPHA:468672","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome colobomatoso de macroftalmia-microcórnea","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome colobomatoso de macroftalmia-microcórnea","Spanish_GARD_Synonym__c":"síndrome macom","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 genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.","Curated_Disease_Description_Source__c":"ORPHA:468672","GARD_Synonym__c":"colobomatous macrophthalmia with microcornea syndrome; macom (macrophthalmia colobomatous with microcornea) syndrome; macom syndrome; macrophthalmia, colobomatous, with microcornea","Name":"Colobomatous macrophthalmia-microcornea syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:468672"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:468672"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:468672"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:468672"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/468672","Source__c":"C1865286; MONDO:0011239; ORPHA:468672","Xref__c":"ORPHA:468672"},{"URL__c":"https://www.omim.org/entry/602499","Source__c":"C1865286; MONDO:0011239; ORPHA:468672","Xref__c":"OMIM:602499"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566533","Source__c":"MONDO:0011239","Xref__c":"C566533"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400728","Source__c":"C1865286","Xref__c":"MEDGEN:400728"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865286","Source__c":"C1865286","Xref__c":"C1865286"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1179296003","Source__c":"C1865286","Xref__c":"1179296003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011239","Source__c":"GARD:0017844","Xref__c":"MONDO:0011239"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRIM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:602499","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007800","HPO_Synonym__c":"Globe elongated; Increased axial globe length; Increased front to back length of eyeball","HPO_Name__c":"Increased axial length of the globe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602499","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602499","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602499","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":"OMIM:602499","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007720","HPO_Synonym__c":"Cornea plana","HPO_Name__c":"Flat cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602499","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:602499","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:602499","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:602499","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"}},{"Provided_By__c":"OMIM:602499","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:602499","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cleft of the optic nerve that extends inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000588","HPO_Synonym__c":"Coloboma of optic nerve; Optic disc coloboma; Optic nerve coloboma","HPO_Name__c":"Optic disc coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602499","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":"OMIM:602499","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["colobomatous macrophthalmia with microcornea syndrome"," macom (macrophthalmia colobomatous with microcornea) syndrome"," macom syndrome"," macrophthalmia, colobomatous, with microcornea"]}