Phenotypes associated with the disease X-linked Alport syndrome (OMIM:301050):
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. (OMIM:301050)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: TAS. (OMIM:301050)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: IEA. (OMIM:301050)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. (OMIM:301050)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:301050)
- Reduced epidermal collagen IV alpha 5 chain staining (HP:6001026): Diminished or absent collagen alpha5(IV) chain staining pattern in the epidermal basement membrane. Evidence: PCS. Frequency: 183/207. (PMID:22921432)
- Lenticonus (HP:0001142): A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. Evidence: IEA. (OMIM:301050)
- Glomerular basement membrane lamellation (HP:0030034): Presence of abnormal additional layers of the basement membrane of the glomerulus. Evidence: TAS. (OMIM:301050)
- Anterior lenticonus (HP:0011501): A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. Evidence: TAS. (OMIM:301050)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: IEA. (OMIM:301050)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: IEA. (OMIM:301050)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: IEA. (OMIM:301050)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:301050)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: IEA. (OMIM:301050)
- Developmental cataract (HP:0000519): 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. Evidence: IEA. (OMIM:301050)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:301050)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: IEA. (OMIM:301050)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: TAS. (OMIM:301050)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: IEA. (OMIM:301050)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. (OMIM:301050)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. (OMIM:301050)
- Diffuse leiomyomatosis (HP:0006756). Evidence: IEA. (OMIM:301050)
- Thickened glomerular basement membrane (HP:0004722): Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Evidence: TAS. (OMIM:301050)