Bartter syndrome, type 3

Preferred Label : Bartter syndrome, type 3;

Symbol : BARTS3;

CISMeF acronym : BARTS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bartter syndrome, classic;

Included titles and symbols : Bartter syndrome, type 3, with hypocalciuria;

Description : Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). - Genetic Heterogeneity of Bartter Syndrome Antenatal Bartter syndrome type 1 (601678) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1; 600839). Antenatal Bartter syndrome type 2 (241200) is caused by loss-of-function mutations in the ATP-sensitive potassium channel;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kidney chloride channel B gene (CLCNKB, 602023.0001);

Laboratory abnormalities : Hypokalemia; Increased serum bicarbonate; Increased urinary potassium; Increased urinary chloride; Hypocalciuria or normocalciuria;

Prefixed ID : #607364;

Details

Origin ID

607364;

UMLS CUI

C1846343;

Automatic exact mappings (from CISMeF team)
- bartter syndrome, type 3, with hypocalciuria [MeSH concept]
- bartter syndrome, type 3, with hypocalciuria [MeSH Supplementary Concept]
CISMeF manual mappings
- Bartter syndrome type 3 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bartter disease type 3 [DO Concept]
- Bartter syndrome type 3 [ICD-11 More detail]
- Bartter syndrome type 3 [ORDO Disease]
- Bartter syndrome, type 3 [Disease (Nov.)]
- Bartter syndrome, type 3 [MeSH concept]
- bartter syndrome, type 3 [MeSH Supplementary Concept]
DO Cross reference
- Bartter disease type 3 [DO Concept]
Genes related to phenotype
- Chloride channel, kidney, b [OMIM gene]
HPO term(s)
- Abnormal choroid morphology [HPO term]
- Abnormal retinal vascular morphology [HPO term]
- Abnormal sclera morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Generalized muscle weakness [HPO term]
- Hyperactive renin-angiotensin system [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperchloriduria [HPO term]
- Hypocalciuria [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic metabolic alkalosis [HPO term]
- Hypotension [HPO term]
- Impaired reabsorption of chloride [HPO term]
- Increased circulating renin level [HPO term]
- Increased urinary potassium [HPO term]
- Polyuria [HPO term]
- Renal potassium wasting [HPO term]
- Renal salt wasting [HPO term]
Not associated HPO term(s)
- Nephrocalcinosis [HPO term]
ORDO concept(s)
- Bartter syndrome [ORDO Disease]
- Bartter syndrome type 3 [ORDO Disease]
See also inter- (CISMeF)
- Classic Bartter syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter syndrome type 3 [ORDO Disease]
- Bartter syndrome type 3 (disorder) [SNOMED CT concept]
- Bartter syndrome, type 3 [MeSH concept]
- Bartter syndrome, type 3 [Disease (Nov.)]
- bartter syndrome, type 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Bartter Syndrome [NCIt concept]
- bartter syndrome [MeSH Descriptor]
- bartter syndrome [MeSH concept]

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