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1.

Bartter's syndrome

Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.
[from GHR]

MedGen UID:
2172
Concept ID:
C0004775
Disease or Syndrome
2.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
3.

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
4.

Error occurred: cannot get document summary

ID:
775793

5.

Platelet aggregation inhibition

Platelet Aggregation Inhibition involves interference with, or restraint of, the activities of biologic molecules or complexes involved in the attachment of platelets to one another. Platelet Aggregation can be affected by a number of agents as part of the mechanism regulating to the formation of a thrombus. [from NCI]

MedGen UID:
181576
Concept ID:
C0919737
Finding
6.

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
7.

Prostaglandins

One of several hormone-like substances made by the body. Different PGs control blood pressure, contraction of smooth muscles, and other processes within tissues where they are made. Certain PGs are being studied as cancer biomarkers. [from NCI]

MedGen UID:
18692
Concept ID:
C0033554
Pharmacologic Substance
8.

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
9.

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
10.

Female Urogenital Diseases

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

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
11.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
12.

Epifrin

MedGen UID:
195872
Concept ID:
C0699336
Pharmacologic Substance
13.

Lyophrin

MedGen UID:
64437
Concept ID:
C0205755
Pharmacologic Substance
14.

Urologic Diseases

condition in which there is a deviation from or interruption of the normal structure or function of the urinary tract. [from CRISP]

MedGen UID:
21791
Concept ID:
C0042075
Disease or Syndrome
15.

Renal Tubular Transport, Inborn Errors

Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES. [from MeSH]

MedGen UID:
19728
Concept ID:
C0035091
Disease or Syndrome
16.

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
17.

Epitrate

MedGen UID:
8662
Concept ID:
C0014564
Pharmacologic Substance
18.

Adrenal Gland Hyperfunction

Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM. [from MeSH]

MedGen UID:
7899
Concept ID:
C0001622
Disease or Syndrome
19.

Medihaler-Epi

MedGen UID:
7516
Concept ID:
C0025133
Pharmacologic Substance
20.

Hyperaldosteronism

A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA. [from MeSH]

MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome

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