Phenotypes associated with the disease cataract 19 multiple types (OMIM:615277):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:18596884)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/3. (PMID:11917274)
- 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: 0/2. (PMID:33078099)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 16/21. (PMID:33708862;PMID:33078099)
- Membranous cataract (HP:0010922): A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. Evidence: PCS. Frequency: 10/23. (PMID:11917274;PMID:18596884;PMID:32202185;PMID:33078099)
- Abnormal optic disc morphology (HP:0012795): A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. Evidence: PCS. Frequency: 11/11. (PMID:33708862)
- 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: 10/10. (PMID:18596884;PMID:32202185;PMID:33708862)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 19/25. (PMID:18596884;PMID:33708862;PMID:33078099)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/11. (PMID:33708862)
- Cortical pulverulent cataract (HP:0007780): A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. Evidence: PCS. Frequency: 7/7. (PMID:11917274;PMID:33708862)
- Pulverulent cataract (HP:0010693): A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. Evidence: PCS. Frequency: 5/17. (PMID:32202185;PMID:33708862;PMID:33078099)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 13/13. (PMID:11917274;PMID:33078099)
- Increased axial length of the globe (HP:0007800): Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. Evidence: PCS. Frequency: 11/15. (PMID:33708862;PMID:33078099)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. Frequency: 3/11. (PMID:33708862)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 8/8. (PMID:33078099)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 4/11. (PMID:33708862)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/3. (PMID:11917274)
- Nuclear cataract (HP:0100018): 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. Evidence: PCS. Frequency: 4/14. (PMID:11917274;PMID:32202185;PMID:33708862)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 4/4. (PMID:18596884)
- Visual fixation instability (HP:0025405): A deficit in the ability to fixate eye movements in order to stabilize images on the retina. Evidence: PCS. Frequency: 1/1. (PMID:18596884)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11917274)
- Lamellar cataract (HP:0007971): A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. Evidence: PCS. Frequency: 2/5. (PMID:33708862)
- Phthisis bulbi (HP:0000667): Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. Evidence: PCS. Frequency: 2/11. (PMID:33708862)
- Alternating esotropia (HP:0001137): Esotropia in which either eye may be used for fixation. Evidence: PCS. Frequency: 1/3. (PMID:33708862)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 2/10. (PMID:33708862)
- Posterior polar cataract (HP:0001115): A polar cataract that affects the posterior pole of the lens. Evidence: PCS. Frequency: 2/5. (PMID:33708862)
- 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:32202185)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: PCS. Frequency: 3/3. (PMID:11917274)
- 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: 1/1. (PMID:32202185)