Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 8

1.

Polycystic kidney dysplasia

The presence of multiple cysts in both kidneys. [from HPO]

MedGen UID:
427793
Concept ID:
CN000111
Finding
2.

Abnormality of the kidney

An abnormality of the kidney. [from HPO]

MedGen UID:
427390
Concept ID:
CN000077
Finding
3.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
4.

Polycystic kidney disease, adult type

Polycystic kidney disease is an autosomal dominant disorder with the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q21-q23. At least 1 other locus exists; see 600666. [from OMIM]

MedGen UID:
88404
Concept ID:
C0085413
Congenital Abnormality
5.

Polycystic Kidney Diseases

Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. [from MeSH]

MedGen UID:
9639
Concept ID:
C0022680
Anatomical Abnormality
6.

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
7.

Chronic granulomatous disease

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
8.

Enlarged kidneys

MedGen UID:
108156
Concept ID:
C0542518
Finding

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...