{"Name":"Irido-corneo-trabecular dysgenesis","DiseaseID__c":"GARD:0007377","id":7377,"encodedName":"irido-corneo-trabecular-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Irido-corneo-trabecular dysgenesis","Xref_IDs__c":"204153003; C0344559; C537884; DOID:0060673; DOID:0080610; MEDGEN:91031; MONDO:0011414; OMIM:604229; ORPHA:708","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011414","Disease_Description__c":"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.","GARD_Name__c":"Irido-corneo-trabecular dysgenesis","GARD_Synonym__c":"anterior segment dysgenesis 5; anterior segment dysgenesis 5, multiple subtypes; asgd5; peter's anomaly; peters anomaly; peters anomaly (disease); peters congenital glaucoma","Curated_Disease_Description_Source__c":"GARD:0007377","Curated_Disease_Description__c":"Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones. Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop 'lazy eye' (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision. There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterized by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:708","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011414","ORPHANET_ID__c":"ORPHA:708","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalía de peters","Spanish_Description_Source__c":"ORPHA:708","Spanish_Description__c":"La anomalía de Peters (AP) es un trastorno de opacidad corneal congénito caracterizado por un leucoma corneal central que obstruye la pupila y provoca pérdida visual, así como por la ausencia del estroma corneal posterior y la membrana de Descemet.","Spanish_Disease_Name__c":"anomalía de peters","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":"Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones. Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop 'lazy eye' (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision. There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterized by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea.","Curated_Disease_Description_Source__c":"GARD:0007377","GARD_Synonym__c":"anterior segment dysgenesis 5; anterior segment dysgenesis 5, multiple subtypes; asgd5; peter's anomaly; peters anomaly; peters anomaly (disease); peters congenital glaucoma","Name":"Irido-corneo-trabecular dysgenesis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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:708"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:708"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007377","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080610","Source__c":"MONDO:0011414","Xref__c":"DOID:0080610"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537884","Source__c":"MONDO:0011414","Xref__c":"C537884"},{"URL__c":"https://www.omim.org/entry/604229","Source__c":"MONDO:0011414; ORPHA:708","Xref__c":"OMIM:604229"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204153003","Source__c":"C0344559; MONDO:0011414","Xref__c":"204153003"},{"URL__c":"https://www.orpha.net/en/disease/detail/708","Source__c":"C0344559; MONDO:0011414; ORPHA:708","Xref__c":"ORPHA:708"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91031","Source__c":"C0344559","Xref__c":"MEDGEN:91031"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344559","Source__c":"C0344559","Xref__c":"C0344559"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060673","Source__c":"MONDO:0011414","Xref__c":"DOID:0060673"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000659","Source__c":"C0344559","Xref__c":"HP:0000659"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011414","Source__c":"GARD:0007377","Xref__c":"MONDO:0011414"},{"URL__c":"https://medlineplus.gov/genetics/condition/peters-anomaly","Source__c":"GARD:0007377","Xref__c":"https://medlineplus.gov/genetics/condition/peters-anomaly"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that affects the region of the lens directly beneath the capsule of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000523","HPO_Synonym__c":"Subcapsular cataracts; Subcapsular lenticular cataracts; Subcapsular opacities","HPO_Name__c":"Subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:708","HPO_Frequency__c":"Uncommon (<1-4%)","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:708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the central portion of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011493","HPO_Name__c":"Central opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the thickness of Descemet's membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031159","HPO_Name__c":"Thinning of Descemet membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:708","HPO_Frequency__c":"Uncommon (<1-4%)","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:708","HPO_Frequency__c":"Always (100%)","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:708","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011483","HPO_Synonym__c":"Anterior synechiae; Cornea-iris adhesion; Iridocorneal adhesions; Iridocorneal synechia","HPO_Name__c":"Anterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:708","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001087","HPO_Synonym__c":"Childhood glaucoma; Infantile glaucoma; Pediatric glaucoma","HPO_Name__c":"Developmental glaucoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["anterior segment dysgenesis 5"," anterior segment dysgenesis 5, multiple subtypes"," asgd5"," peter's anomaly"," peters anomaly"," peters anomaly (disease)"," peters congenital glaucoma"]}