{"Name":"Microphthalmia, isolated, with cataract 1","DiseaseID__c":"GARD:0009610","id":9610,"encodedName":"microphthalmia-isolated-with-cataract-1","IsDeleted":false,"Disease_Name_Full__c":"Microphthalmia, isolated, with cataract 1","Xref_IDs__c":"C1834919; C563582; MEDGEN:320475; MONDO:0007995; OMIM:156850","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1834919","Disease_Description__c":"Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.","GARD_Name__c":"Microphthalmia, isolated, with cataract 1","GARD_Synonym__c":"mcopct1","Curated_Disease_Description_Source__c":"MEDGEN:C1834919","Curated_Disease_Description__c":"This rare eye disease affects how the eyes form before birth and can involve many different eye structures. In this disease, one or both eyeballs are smaller than usual, a condition known as microphthalmia, and in very severe cases the eyeball may appear missing, even though some eye tissue is usually present. Microphthalmia can occur alone or as part of a syndrome that affects other organs and body systems, and it may or may not cause major vision loss. Some people also have coloboma, which means pieces of tissue are missing from parts of the eye, such as the colored iris, the light-sensing retina, the layer of blood vessels under the retina, or the optic nerve that carries visual information to the brain. Depending on where these gaps are and how big they are, vision can be affected in different ways. Other possible eye changes include cataracts (clouding of the lens), a narrowed eye opening, and microcornea, where the clear front covering of the eye is smaller and more curved than usual. In many people, microphthalmia occurs along with other birth differences, but in some it affects only the eyes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007995","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare eye disease affects how the eyes form before birth and can involve many different eye structures. In this disease, one or both eyeballs are smaller than usual, a condition known as microphthalmia, and in very severe cases the eyeball may appear missing, even though some eye tissue is usually present. Microphthalmia can occur alone or as part of a syndrome that affects other organs and body systems, and it may or may not cause major vision loss. Some people also have coloboma, which means pieces of tissue are missing from parts of the eye, such as the colored iris, the light-sensing retina, the layer of blood vessels under the retina, or the optic nerve that carries visual information to the brain. Depending on where these gaps are and how big they are, vision can be affected in different ways. Other possible eye changes include cataracts (clouding of the lens), a narrowed eye opening, and microcornea, where the clear front covering of the eye is smaller and more curved than usual. In many people, microphthalmia occurs along with other birth differences, but in some it affects only the eyes.","Curated_Disease_Description_Source__c":"MEDGEN:C1834919","GARD_Synonym__c":"mcopct1","Name":"Microphthalmia, isolated, with cataract 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320475","Source__c":"C1834919","Xref__c":"MEDGEN:320475"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834919","Source__c":"C1834919","Xref__c":"C1834919"},{"URL__c":"https://www.omim.org/entry/156850","Source__c":"C1834919; MONDO:0007995","Xref__c":"OMIM:156850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563582","Source__c":"MONDO:0007995","Xref__c":"C563582"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007995","Source__c":"GARD:0009610","Xref__c":"MONDO:0007995"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:156850","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":"OMIM:156850","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:156850","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:156850","Feature__r":{"HPO_Description__c":"Abnormal (non-physiological) constriction of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000616","HPO_Synonym__c":"Constricted pupils; Pupillary constriction","HPO_Name__c":"Miosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156850","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":{},"synonyms":["mcopct1"]}