From HPO
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
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).
Polyuria- MedGen UID:
- 19404
- •Concept ID:
- C0032617
- •
- Sign or Symptom
An increased rate of urine production.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Interstitial nephritis- MedGen UID:
- 11952
- •Concept ID:
- C0041349
- •
- Disease or Syndrome
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Vesicoureteral reflux- MedGen UID:
- 21852
- •Concept ID:
- C0042580
- •
- Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007).
Genetic Heterogeneity of Vesicoureteral Reflux
A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Glomerular sclerosis- MedGen UID:
- 61248
- •Concept ID:
- C0178664
- •
- Disease or Syndrome
Accumulation of scar tissue within the glomerulus.
Hyposthenuria- MedGen UID:
- 68565
- •Concept ID:
- C0232831
- •
- Finding
An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
Renal interstitial fibrosis- MedGen UID:
- 68628
- •Concept ID:
- C0235989
- •
- Disease or Syndrome
The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Thickened glomerular basement membrane- MedGen UID:
- 488906
- •Concept ID:
- C0445347
- •
- Finding
Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.
Decreased glomerular filtration rate- MedGen UID:
- 163428
- •Concept ID:
- C0853068
- •
- Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Chronic kidney disease- MedGen UID:
- 473458
- •Concept ID:
- C1561643
- •
- Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
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.
Renal tubular atrophy- MedGen UID:
- 388054
- •Concept ID:
- C1858395
- •
- Finding
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.
Renal corticomedullary cysts- MedGen UID:
- 409631
- •Concept ID:
- C1968619
- •
- Disease or Syndrome
The presence of multiple cysts at the border between the renal cortex and medulla.
Stage 1 chronic kidney disease- MedGen UID:
- 378390
- •Concept ID:
- C2316401
- •
- Disease or Syndrome
A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).
Stage 2 chronic kidney disease- MedGen UID:
- 384525
- •Concept ID:
- C2316786
- •
- Disease or Syndrome
A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).
Stage 3 chronic kidney disease- MedGen UID:
- 389222
- •Concept ID:
- C2316787
- •
- Disease or Syndrome
A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
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.
Stage 4 chronic kidney disease- MedGen UID:
- 389224
- •Concept ID:
- C2317473
- •
- Disease or Syndrome
A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).
Hyperechogenic kidneys- MedGen UID:
- 477530
- •Concept ID:
- C3275899
- •
- Finding
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Reduced renal corticomedullary differentiation- MedGen UID:
- 813461
- •Concept ID:
- C3807131
- •
- Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
Decreased urinary urate- MedGen UID:
- 868715
- •Concept ID:
- C4023118
- •
- Finding
Decreased concentration of urate in the urine.
IgA deposition in the glomerulus- MedGen UID:
- 892365
- •Concept ID:
- C4025827
- •
- Finding
The presence of immunoglobulin A deposits in the glomerulus.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Gout- MedGen UID:
- 42280
- •Concept ID:
- C0018099
- •
- Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
Nephritis- MedGen UID:
- 14328
- •Concept ID:
- C0027697
- •
- Disease or Syndrome
The presence of inflammation affecting the kidney.
Increased blood urea nitrogen- MedGen UID:
- 760252
- •Concept ID:
- C0151539
- •
- Finding
An increased amount of nitrogen in the form of urea in the blood.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
An abnormally high level of uric acid in the blood.
Elevated circulating parathyroid hormone level- MedGen UID:
- 167805
- •Concept ID:
- C0857973
- •
- Finding
An abnormal increased concentration of parathyroid hormone.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system