Bartter Syndrome, Type 1, Antenatal; Barts1

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 1, Antenatal; Barts1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape

And another 51 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Bartter Syndrome, Type 1, Antenatal; Barts1 Is also known as hyperprostaglandin e syndrome 1, hypokalemic alkalosis with hypercalciuria 1, antenatal.

Researches and researchers

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Bartter Syndrome, Type 1, Antenatal; Barts1 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
20 %
Genes
100 %
SLC12A1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SLC12A1
Specificity
100 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
Antenatal Bartter syndrome type 1.

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

SLC12A1
Specificity
100 %
Genes
100 %
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
100 %
SLC12A1. Complete sequencing.

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

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

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

SLC12A1, KCNJ1
Specificity
50 %
Genes
100 %
Non syndromic deafness AR and XL (NGS panel for 56 genes).

By CGC Genetics (Portugal).

SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, ESPN, CLIC5, CDH23, CABP2, PCDH15, STRC, WHRN, OTOA, TMC1, TMC2, TRIOBP, GIPC3, CLDN14, LHFPL5 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %

We have 38 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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