Gitelman Syndrome; Gtlmns

Description

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Clinical Features

Top most frequent phenotypes and symptoms related to Gitelman Syndrome; Gtlmns

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever

And another 57 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

Gitelman Syndrome; Gtlmns Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria, potassium and magnesium depletion.

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.


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Gitelman Syndrome; Gtlmns 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
40 %
Genes
100 %
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
2 %
Genes
50 %
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
5 %
Genes
100 %
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
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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