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Bartter syndrome type 4

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Infantile Bartter syndrome with sensorineural deafness
SNOMED CT: Bartter syndrome type 4 (700112007); Bartter's syndrome type 4 (700112007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0019524
Orphanet: ORPHA89938


A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBartter syndrome type 4

Professional guidelines


Honka H, Salehi M
Curr Opin Clin Nutr Metab Care 2019 Jul;22(4):295-302. doi: 10.1097/MCO.0000000000000574. PMID: 31082828Free PMC Article
Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M
Orphanet J Rare Dis 2019 Feb 13;14(1):41. doi: 10.1186/s13023-018-0981-5. PMID: 30760291Free PMC Article

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