The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.
Gene: COL4A4
Cytoband position: 2q36.3
OMIM: 120131
RVIS score: 1.04
RVIS percentage: 91.27
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Autosomal recessive inheritance | HP:0000007 | HP:0001526 | 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). |
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Renal insufficiency | HP:0000083 | HP:0004723 | 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. |
| Proteinuria | HP:0000093 | None | Increased levels of protein in the urine. |
| Abnormal renal glomerulus morphology | HP:0000095 | None | A structural anomaly of the glomerulus. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Abnormality of the lens | HP:0000517 | None | An abnormality of the lens. |
| Nephritis | HP:0000123 | HP:0008634 | The presence of inflammation affecting the kidney. |
| Hearing abnormality | HP:0000364 | None | An abnormality of the sensory perception of sound. |
| Hearing impairment | HP:0000365 | HP:0008563 | A decreased magnitude of the sensory perception of sound. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormal cornea morphology | HP:0000481 | HP:0007972 | Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. |
| Abnormal glomerular basement membrane morphology | HP:0033282 | None | Any abnormal sttructure of the glomerular basement membrane. |
| Cataract | HP:0000518 | HP:0010700 | A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. |
| Abnormality of refraction | HP:0000539 | None | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| Myopia | HP:0000545 | HP:0008012 | An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. |
| Abnormal urine metabolite level | HP:0033354 | None | Any deviation from the normal amount of a metabolite in urine. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Hematuria | HP:0000790 | None | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| Hypertension | HP:0000822 | HP:0005126 | The presence of chronic increased pressure in the systemic arterial system. |
| Glomerular subepithelial deposits | HP:0033603 | None | Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). |
| Lenticonus | HP:0001142 | None | A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. |
| Heterogeneous | HP:0001425 | None | None |
| Abnormality of the cardiovascular system | HP:0001626 | None | Any abnormality of the cardiovascular system. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0004367 | None |
| Abnormality of the immune system | HP:0002715 | HP:0010986 | An abnormality of the immune system. |
| Abnormality of urine homeostasis | HP:0003110 | HP:0011866 | An abnormality of the composition of urine or the levels of its components. |
| Corneal erosion | HP:0200020 | None | An erosion or abrasion of the cornea's outermost layer of epithelial cells. |
| Progressive | HP:0003676 | None | Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. |
| Pace of progression | HP:0003679 | None | None |
| Nonprogressive | HP:0003680 | HP:0003685 | Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. |
| Abnormal urine protein level | HP:0020129 | None | Any deviation of the concentration of one or more proteins in the urine. |
| Stage 5 chronic kidney disease | HP:0003774 | HP:0005570 | 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. |
| Abnormal anterior eye segment morphology | HP:0004328 | None | An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). |
| Thickened glomerular basement membrane | HP:0004722 | None | Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormal renal cortex morphology | HP:0011035 | None | An abnormality of the cortex of the kidney. |
| Abnormality of the urinary system physiology | HP:0011277 | None | None |
| Anterior lenticonus | HP:0011501 | None | A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. |
| Abnormal renal morphology | HP:0012210 | HP:0008712 | Any structural anomaly of the kidney. |
| Abnormal renal physiology | HP:0012211 | HP:0008646 | An abnormal functionality of the kidney. |
| Abnormal eye morphology | HP:0012372 | HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal nephron morphology | HP:0012575 | None | A structural anomaly of the nephron. |
| Chronic kidney disease | HP:0012622 | HP:0008671 | Functional anomaly of the kidney persisting for at least three months. |
| Increased inflammatory response | HP:0012649 | None | A abnormal increase in the inflammatory response to injury or infection. |
| Glomerular basement membrane lamellation | HP:0030034 | None | Presence of abnormal additional layers of the basement membrane of the glomerulus. |
| Glomerular deposits | HP:0030949 | None | An abnormal accumulation of protein in the glomerulus. |
| Abnormal systemic blood pressure | HP:0030972 | None | A chronic deviation from normal pressure in the systemic arterial system. |
| Abnormal renal corpuscle morphology | HP:0031263 | None | Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. |
| Abnormal ear physiology | HP:0031704 | None | Any functional anomaly of the ear. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Increased blood pressure | HP:0032263 | None | Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. |
| Abnormal corneal epithelium morphology | HP:0011495 | None | Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. |
| Abnormality of lens shape | HP:0011526 | None | An abnormal shape of the lens. |
| Nephrotic syndrome | HP:0000100 | HP:0008727 | 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. |
| Thin glomerular basement membrane | HP:0012577 | None | Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. |
| Abnormal urine cytology | HP:0012614 | None | An anomalous finding in the examination of the urine for cells. |
| Abnormal inflammatory response | HP:0012647 | None | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001463 | 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. |