{"Name":"Isolated aniridia","DiseaseID__c":"GARD:0005816","id":5816,"encodedName":"isolated-aniridia","IsDeleted":false,"Disease_Name_Full__c":"Isolated aniridia","Xref_IDs__c":"CN295308; MEDGEN:978406; MONDO:0007119; OMIMPS:106210; ORPHA:250923","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007119","Disease_Description__c":"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.","GARD_Name__c":"Isolated aniridia","GARD_Synonym__c":"nonsyndromic aniridia","Curated_Disease_Description_Source__c":"GARD:0005816","Curated_Disease_Description__c":"Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris).  These iris abnormalities may cause the pupils to be abnormal or misshapen.  Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). People with aniridia can also have other eye problems.   Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence.  Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia.  In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped.  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals.  The severity of symptoms is typically the same in both eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:250923","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007119","ORPHANET_ID__c":"ORPHA:250923","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aniridia aislada","Spanish_Description_Source__c":"ORPHA:250923","Spanish_Description__c":"La aniridia aislada es una malformación ocular bilateral congénita caracterizada por la ausencia parcial o completa del iris.","Spanish_Disease_Name__c":"aniridia aislada","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":"Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris).  These iris abnormalities may cause the pupils to be abnormal or misshapen.  Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). People with aniridia can also have other eye problems.   Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence.  Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia.  In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped.  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals.  The severity of symptoms is typically the same in both eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.","Curated_Disease_Description_Source__c":"GARD:0005816","GARD_Synonym__c":"nonsyndromic aniridia","Name":"Isolated aniridia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.org"},{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"},{"Account_Name__c":"Aniridia Foundation International","Website__c":"https://www.make-a-miracle.org/"}],"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:250923"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0003076"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005816","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1360","Source__c":"Gene Review","Xref__c":"NBK1360"},{"URL__c":"https://www.orpha.net/en/disease/detail/250923","Source__c":"CN295308; MONDO:0007119","Xref__c":"ORPHA:250923"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS106210","Source__c":"MONDO:0007119","Xref__c":"OMIMPS:106210"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007119","Source__c":"GARD:0005816","Xref__c":"MONDO:0007119"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=978406","Source__c":"CN295308","Xref__c":"MEDGEN:978406"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN295308","Source__c":"CN295308","Xref__c":"CN295308"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRIM44","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FOXC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032107","HPO_Name__c":"Limbal stem cell deficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","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:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030468","HPO_Name__c":"Abnormal multifocal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Very frequent (80-99%)","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:250923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fovea centralis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007750","HPO_Synonym__c":"Foveal hypoplasia","HPO_Name__c":"Hypoplasia of the fovea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008059","HPO_Synonym__c":"Absent/underdeveloped macula","HPO_Name__c":"Aplasia/Hypoplasia of the macula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030622","HPO_Name__c":"Abnormal foveal pit on macular OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030961","HPO_Name__c":"Microspherophakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030466","HPO_Name__c":"Abnormal full-field electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007894","HPO_Synonym__c":"Decreased fundus pigmentation; Depigmented fundus; Hypopigmentation of the fundus","HPO_Name__c":"Fundus hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000526","HPO_Synonym__c":"Absent iris","HPO_Name__c":"Aniridia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital underdevelopment of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007676","HPO_Synonym__c":"Hypoplastic iris; Iris hypoplasia; Underdeveloped iris","HPO_Name__c":"Hypoplasia of the iris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000659","HPO_Name__c":"Peters anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","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":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","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:250923","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":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty with discriminating red and green hues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000642","HPO_Synonym__c":"Dyschromatopsia with red-green confusion; Red green color blindness","HPO_Name__c":"Red-green dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:250923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100719","HPO_Name__c":"Lens coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001083","HPO_Synonym__c":"Abnormality of lens position; Lens dislocation","HPO_Name__c":"Ectopia lentis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["nonsyndromic aniridia"]}