Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness; Barts4b

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).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Clinical Features

Top most frequent phenotypes and symptoms related to Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness; Barts4b

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Motor delay
  • Edema
  • Renal insufficiency
  • Abnormality of metabolism/homeostasis

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B have a estimated incidence of 0.1 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

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Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness; Barts4b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CLCNKB DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CLCNKB
Specificity
100 %
Genes
50 %
Hereditary Renal Tubular Disorders Evaluation.

By Athena Diagnostics Inc (United States).

SLC12A1, SLC12A3, BSND, CLCNKB, KCNJ1
Specificity
20 %
Genes
50 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
3 %
Genes
100 %
CLCNKB Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CLCNKB
Specificity
100 %
Genes
50 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
CLCNKB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CLCNKB
Specificity
100 %
Genes
50 %
Bartter Syndrome type 3 (sequence analysis of CLCNKB gene).

By CGC Genetics (Portugal).

CLCNKB
Specificity
100 %
Genes
50 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics (Portugal).

CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
6 %
Genes
50 %

You can get up to 45 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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