| HPO |
HP:0000080 |
Abnormality of reproductive system physiology |
"An abnormal functionality of the genital system." [HPO:probinson] |
— |
HP:0000078 |
| HPO |
HP:0000081 |
Duplicated collecting system |
"A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." [HPO:probinson] |
— |
HP:0004742 |
| HPO |
HP:0000083 |
Renal insufficiency |
"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." [HPO:probinson] |
— |
HP:0012211 |
| HPO |
HP:0000085 |
Horseshoe kidney |
"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson] |
— |
HP:0100542 |
| HPO |
HP:0000086 |
Ectopic kidney |
"A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:probinson] |
— |
HP:0100542 |
| HPO |
HP:0000089 |
Renal hypoplasia |
"Hypoplasia of the kidney." [HPO:probinson] |
Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. |
HP:0008678 |
| HPO |
HP:0000090 |
Nephronophthisis |
"Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [Eurenomics:fschaefer] |
Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. |
HP:0100957 |
| HPO |
HP:0000091 |
Abnormal renal tubule morphology |
"An abnormality of the renal tubules." [HPO:probinson] |
The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. |
HP:0012575 |
| HPO |
HP:0000092 |
Renal tubular atrophy |
"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [HPO:probinson, PMID:27211375] |
Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. |
HP:0032599 |
| HPO |
HP:0000093 |
Proteinuria |
"Increased levels of protein in the urine." [HPO:probinson] |
— |
HP:0020129 |
| HPO |
HP:0000095 |
Abnormal renal glomerulus morphology |
"A structural anomaly of the glomerulus." [Eurenomics:ewuehl, PMID:18184729] |
Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. |
HP:0031263 |
| HPO |
HP:0000096 |
Glomerular sclerosis |
"Accumulation of scar tissue within the glomerulus." [Eurenomics:fschaefer] |
— |
HP:0000095 |
| HPO |
HP:0000097 |
Focal segmental glomerulosclerosis |
"Segmental accumulation of scar tissue in individual (but not all) glomeruli." [Eurenomics:fschaefer, PMID:16164633] |
Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. |
HP:0000096 |
| HPO |
HP:0000098 |
Tall stature |
"A height above that which is expected according to age and gender norms." [HPO:probinson] |
— |
HP:0000002 |
| HPO |
HP:0000099 |
Glomerulonephritis |
"Inflammation of the renal glomeruli." [HPO:probinson] |
— |
HP:0000095, HP:0000123 |
| HPO |
HP:0000100 |
Nephrotic syndrome |
"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." [HPO:probinson] |
In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. |
HP:0012211 |
| HPO |
HP:0000103 |
Polyuria |
"An increased rate of urine production." [HPO:probinson] |
An excessive volume of urination for an adult is more than 2.5 liters of urine per day. |
HP:0012590 |
| HPO |
HP:0000104 |
Renal agenesis |
"Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson] |
Renal agenesis can occur as a unilateral or bilateral trait. |
HP:0008678 |
| HPO |
HP:0000105 |
Enlarged kidney |
"An abnormal increase in the size of the kidney." [HPO:probinson] |
The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. |
HP:0012210 |
| HPO |
HP:0000107 |
Renal cyst |
"A fluid filled sac in the kidney." [Eurenomics:fschaefer] |
— |
HP:0012210 |
| HPO |
HP:0000108 |
Renal corticomedullary cysts |
"The presence of multiple cysts at the border between the renal cortex and medulla." [HPO:probinson] |
— |
HP:0000107, HP:0011035, HP:0100957 |
| HPO |
HP:0000110 |
Renal dysplasia |
"The presence of developmental dysplasia of the kidney." [HPO:probinson] |
— |
HP:0012210 |
| HPO |
HP:0000111 |
Renal juxtaglomerular cell hypertrophy/hyperplasia |
"Increased number and size of the juxtaglomerular cells." [Eurenomics:ewuehl] |
— |
HP:0000095 |
| HPO |
HP:0000112 |
Nephropathy |
"A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
— |
HP:0012211 |
| HPO |
HP:0000113 |
Polycystic kidney dysplasia |
"The presence of multiple cysts in both kidneys." [HPO:probinson] |
Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. |
HP:0000107 |