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Results: 1 to 20 of 21

1.

Dystonia 10

Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males. [from GeneReviews]

MedGen UID:
358268
Concept ID:
C1868682
Disease or Syndrome
2.

Polycystic kidney disease

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
3.

Cyst

A sac or capsule in the body. It may be filled with fluid or other material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
4.

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
5.

Kidney disease

A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma). [from NCI]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
6.

Renal cyst

A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include: -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
776573
Concept ID:
C2173677
Finding
7.

Renal dysplasia

MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
8.

Renal dysplasia

The presence of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203). [from HPO]

MedGen UID:
504345
Concept ID:
CN000108
Finding
9.

Polycystic kidney dysplasia

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

MedGen UID:
427793
Concept ID:
CN000111
Finding
10.

Abnormality of the kidney

An abnormality of the `kidney` (FMA:7203). [from HPO]

MedGen UID:
427390
Concept ID:
CN000077
Finding
11.

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
12.

Dysplasia

Cells that look abnormal under a microscope but are not cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
13.

Renal dysplasia

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. [from OMIM]

MedGen UID:
82738
Concept ID:
C0266313
Disease or Syndrome
14.

Recruitment

MedGen UID:
78772
Concept ID:
C0271510
Disease or Syndrome
15.

Sporadic

MedGen UID:
64410
Concept ID:
C0205422
16.

Polycystic disease of pancreas

MedGen UID:
574419
Concept ID:
C0341481
Disease or Syndrome
17.

Abnormal renal physiology

An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203). [from HPO]

MedGen UID:
489768
Concept ID:
CN168062
Finding
18.

Polycystic kidney dysplasia

MedGen UID:
472186
Concept ID:
CN130108
Disease or Syndrome
19.

Cystic renal dysplasia

MedGen UID:
334139
Concept ID:
C1842693
Finding
20.

Liver enzymes abnormal

MedGen UID:
105125
Concept ID:
C0438237
Finding

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