Phenotypes associated with the disease aniridia 1 (OMIM:106210):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 9/9. (PMID:7550230)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:106210)
- Strabismus (HP:0000486): 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. Evidence: PCS. Frequency: 4/10. (PMID:16543198)
- Anterior subcapsular cataract (HP:0010923): A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Ectopia pupillae (HP:0009918): A malposition of the pupil owing to a developmental defect of the iris. Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Increased proinsulin:insulin ratio (HP:0031883): An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. Evidence: PCS. (PMID:19034419)
- Macular agenesis (HP:0033743): A congenital defect characterized by lack of development of the macula. Evidence: PCS. Frequency: 1/9. (PMID:7550230)
- Retinal vascular tortuosity (HP:0012841): An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 2/9. (PMID:7550230)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 8/10. (PMID:16543198)
- Bilateral ptosis (HP:0001488). Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: PCS. Frequency: 1/1. (PMID:7550230)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. (OMIM:106210)
- Ectopia lentis (HP:0001083): 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. Evidence: PCS. Frequency: 1/9. (PMID:16543198)
- Chorioretinal hypopigmentation (HP:0040030): Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy. Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: IEA. (OMIM:106210)
- Corneal neovascularization (HP:0011496): Ingrowth of new blood vessels into the cornea. Evidence: PCS. Frequency: 5/10. (PMID:16543198)
- Ptosis (HP:0000508): 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). Evidence: PCS. Frequency: 6/10. (PMID:16543198)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 11/11. (PMID:16543198;PMID:17148041)
- Aniridia (HP:0000526): 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. Evidence: PCS. Frequency: 19/19. (PMID:16543198;PMID:7550230)
- Hypoplasia of the iris (HP:0007676): Congenital underdevelopment of the iris. Evidence: PCS. Frequency: 1/1. (PMID:17148041)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:7550230)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: 7/19. (PMID:16543198;PMID:7550230)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: TAS. (OMIM:106210)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: PCS. (PMID:19034419)