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Results: 1 to 20 of 39

1.

Alport syndrome

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss. Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.
[from GHR]

MedGen UID:
339209
Concept ID:
C1567741
Disease or Syndrome
2.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
4.

Thin glomerular basement membrane

Reduction in thickness of the basal lamina of the glomerulus of the kidney. [from HPO]

MedGen UID:
776958
Concept ID:
CN183846
Finding
5.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
504346
Concept ID:
CN000110
Finding
6.

Thin glomerular basement membrane

MedGen UID:
478451
Concept ID:
C3276821
Finding
7.

Alport syndrome, X-linked recessive

Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. Renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal involvement and extrarenal abnormalities are rare. [from GeneReviews]

MedGen UID:
292688
Concept ID:
C1567742
Disease or Syndrome
8.

Kidney disease

Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:: -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
9.

Carrier of disorder

condition of harboring an infective organism without manifesting symptoms of infection; organism is readily transmissable to another susceptible host. [from CRISP]

MedGen UID:
107864
Concept ID:
C0560175
Finding
10.

Hematuria

A disorder characterized by laboratory test results that indicate blood in the urine. [from NCI]

MedGen UID:
5488
Concept ID:
C0018965
Finding
11.

Error occurred: cannot get document summary

ID:
506914

12.

Stage 5 chronic kidney disease

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. [from HPO]

MedGen UID:
505594
Concept ID:
CN003407
Finding
13.

Alport syndrome, autosomal recessive

Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. Renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal involvement and extrarenal abnormalities are rare. [from GeneReviews]

MedGen UID:
292689
Concept ID:
C1567744
Disease or Syndrome
14.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
15.

Context

The universe of discourse that surrounds a language unit and helps to determine its interpretation. [from NCI]

MedGen UID:
105274
Concept ID:
C0449255
Finding
16.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
17.

Kidney Failure, Chronic

Impairment of the renal function due to chronic kidney damage. [from NCI]

MedGen UID:
9637
Concept ID:
C0022661
Disease or Syndrome
18.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI]

MedGen UID:
5539
Concept ID:
C0019409
19.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
20.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome

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