{"Name":"Congenital miosis","DiseaseID__c":"GARD:0003635","id":3635,"encodedName":"congenital-miosis","IsDeleted":false,"Disease_Name_Full__c":"Congenital miosis","Xref_IDs__c":"400962005; C1303009; C537550; HP:0007728; MEDGEN:227002; MONDO:0007989; OMIM:156600; ORPHA:566","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007989","Disease_Description__c":"Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.","GARD_Name__c":"Congenital miosis","GARD_Synonym__c":"chromosome 13q32 deletion syndrome; congenital microcoria; mcor; microcoria, congenital","Curated_Disease_Description_Source__c":"GARD:0003635","Curated_Disease_Description__c":"Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen). People with Congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate poorly or not at all, even when pupil-dilating medicines (eye drops) are put on the eye. The disorder is also often associated with nearsightedness, and glaucoma in childhood or early adulthood. Congenital microcoria that is not associated with an underlying syndrome is caused by a small, missing piece of genetic material (deletion) around a region of chromosome 13 designated as 13q32. This region contains several genes, although it appears the exact gene or genes in the region responsible for Congenital microcoria are still under investigation. Inheritance is autosomal dominant. Congenital microcoria is also a feature of autosomal recessive Pierson syndrome, caused by genetic changes in the LAMB2 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:566","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007989","ORPHANET_ID__c":"ORPHA:566","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microcoria congénita","Spanish_Description_Source__c":"ORPHA:566","Spanish_Description__c":"Es una enfermedad oftalmológica poco frecuente de transmisión autosómica dominante por el mal desarrollo del músculo dilatador de la pupila. Está caracterizada por pupilas pequeñas desde el nacimiento (<2 mm de diámetro), hipopigmentación periférica del iris y defectos de transiluminación que conducen a errores de refracción (miopía, astigmatismo) y, en ocasiones, a glaucoma juvenil de ángulo abierto.","Spanish_Disease_Name__c":"microcoria congénita","Spanish_GARD_Synonym__c":"miosis congénita","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":"Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen). People with Congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate poorly or not at all, even when pupil-dilating medicines (eye drops) are put on the eye. The disorder is also often associated with nearsightedness, and glaucoma in childhood or early adulthood. Congenital microcoria that is not associated with an underlying syndrome is caused by a small, missing piece of genetic material (deletion) around a region of chromosome 13 designated as 13q32. This region contains several genes, although it appears the exact gene or genes in the region responsible for Congenital microcoria are still under investigation. Inheritance is autosomal dominant. Congenital microcoria is also a feature of autosomal recessive Pierson syndrome, caused by genetic changes in the LAMB2 gene.","Curated_Disease_Description_Source__c":"GARD:0003635","GARD_Synonym__c":"chromosome 13q32 deletion syndrome; congenital microcoria; mcor; microcoria, congenital","Name":"Congenital miosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Glaucoma Research Foundation","Website__c":"http://www.glaucoma.org"},{"Account_Name__c":"Glaucoma UK","Website__c":"https://glaucoma.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":"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:566"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:566"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/156600","Source__c":"C1303009; MONDO:0007989; ORPHA:566","Xref__c":"OMIM:156600"},{"URL__c":"https://www.orpha.net/en/disease/detail/566","Source__c":"C1303009; MONDO:0007989; ORPHA:566","Xref__c":"ORPHA:566"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537550","Source__c":"MONDO:0007989","Xref__c":"C537550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=227002","Source__c":"C1303009","Xref__c":"MEDGEN:227002"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400962005","Source__c":"C1303009; MONDO:0007989","Xref__c":"400962005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1303009","Source__c":"C1303009","Xref__c":"C1303009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007989","Source__c":"GARD:0003635","Xref__c":"MONDO:0007989"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007728","Source__c":"C1303009","Xref__c":"HP:0007728"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012108","HPO_Name__c":"Open angle glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:566","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000485","HPO_Synonym__c":"Anterior megalophthalmos; Enlarged cornea; Increased corneal diameter; Macrocornea","HPO_Name__c":"Megalocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid and swelling of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012040","HPO_Name__c":"Corneal stromal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007695","HPO_Name__c":"Abnormal pupillary light reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031730","HPO_Name__c":"Axial myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012805","HPO_Name__c":"Iris transillumination defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012047","HPO_Synonym__c":"Day blindness","HPO_Name__c":"Hemeralopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:566","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the stroma of iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007990","HPO_Synonym__c":"Hypoplastic iris stoma; Iris stromal hypoplasia; Underdeveloped iris stroma","HPO_Name__c":"Hypoplastic iris stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:566","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["chromosome 13q32 deletion syndrome"," congenital microcoria"," mcor"," microcoria, congenital"]}