01
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Bartter Disease
- Standard Disease Name
- bartter disease
- MeSH Tree
- No data
- ICD-10
- E26.81
Identifiers
- DO ID
- No data
- MeSH ID
- D001477
- OMIM ID
- No data
- UMLS ID
- C0004775
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NICHD_1602D:A rare, inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Affected individuals have high concentration of plasma renin that is not associated with hypertension.|NCI2016_02D:A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension.|MSH2017_2016_08_12:A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.|JABL99:Hypertrophy and hyperplasia of the juxtaglomerular apparatus with secondary hyperaldosteronism with normal blood pressure and hyperkalemic alkalosis in the absence of edema. Most patients show growth and mental retardation. Nephrocalcinosis and hypercalcinuria occur in some cases. Diuretic abuse may produce a syndrome with similar characteristics (pseudo-Bartter or factitious Bartter syndrome).|CSP2006:transmitted as an autosomal recessive trait; characterized by hypertrophy and hyperplasia of the juxtaglomerular cells, and increased concentrations of renin, angiotensin II, and aldosterone in the absence of edema and hypertension.
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