Bartter Syndrome, Type 2, Antenatal; Barts2

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 forms of Bartter syndrome 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 (see BARTS3, {607364}) 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 2, Antenatal; Barts2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Pain
  • Fever
  • Macrocephaly
  • Frontal bossing
  • Vomiting

And another 48 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Bartter Syndrome, Type 2, Antenatal; Barts2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal, hyperprostaglandin e syndrome 2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Bartter Syndrome, Type 2, Antenatal; Barts2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Renal Tubular Disorders Evaluation.

By Athena Diagnostics Inc (United States).

SLC12A1, SLC12A3, BSND, CLCNKB, KCNJ1
Specificity
40 %
Genes
100 %
KCNJ1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

KCNJ1
Specificity
100 %
Genes
50 %
Antenatal Bartter syndrome type 2.

By Genetics Laboratory Shodair Children's Hospital (United States).

KCNJ1
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
5 %
Genes
100 %
KCNJ1. Complete sequencing.

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

KCNJ1
Specificity
100 %
Genes
50 %
SLC12A1, KCNJ1. NextGeneDx.Complete sequencing by NGS.

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

SLC12A1, KCNJ1
Specificity
50 %
Genes
50 %
Bartter syndrome type 2 (sequence analysis of KCNJ1 gene).

By CGC Genetics (Portugal).

KCNJ1
Specificity
100 %
Genes
50 %
Antenatal Bartter Syndrome Type 2.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique (Belgium).

KCNJ1
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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