Liddle Syndrome 1; Lidls1

Description

Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014). Genetic Heterogeneity of Liddle SyndromeLiddle syndrome-2 (OMIM ) is caused by mutation in the SCNN1G gene (OMIM ), which encodes the ENaC gamma subunit. Liddle syndrome-3 (OMIM ) is caused by mutation in the SCNN1A gene (OMIM ), which encodes the ENaC alpha subunit.Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.

Clinical Features

Top most frequent phenotypes and symptoms related to Liddle Syndrome 1; Lidls1

  • Hypertension
  • Renal insufficiency
  • Stroke
  • Stage 5 chronic kidney disease
  • Abnormality of the cardiovascular system
  • Myocardial infarction
  • Hypokalemia
  • Hyperaldosteronism
  • Alkalosis
  • Metabolic alkalosis

And another 6 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

Liddle Syndrome 1; Lidls1 Is also known as lidls, liddle syndrome, pseudoaldosteronism, pseudohyperaldosteronism.

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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Liddle Syndrome 1; Lidls1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pseudohypoaldosteronism Type 1 Evaluation (SCNN1A, SCNN1B, SCNN1G).

By Athena Diagnostics Inc (United States).

SCNN1A, SCNN1B, SCNN1G
Specificity
34 %
Genes
100 %
SCNN1B DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SCNN1B
Specificity
100 %
Genes
100 %
Monogenic Hypertension Evaluation.

By Athena Diagnostics Inc (United States).

SCNN1B, SCNN1G, CYP11B1, HSD11B2
Specificity
25 %
Genes
100 %
Liddle's Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

SCNN1B, SCNN1G
Specificity
50 %
Genes
100 %
Comprehensive Pulmonary Panel.

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

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.

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

RPGR, SCNN1A, SCNN1B, SCNN1G, SPAG1, RSPH1, CFAP298, NME8, LRRC6, INVS, CENPF, CCNO, DNAI2, CFTR, ZMYND10, DNAAF2, RSPH3, RSPH9, DNAAF4, RSPH4A , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Cystic Fibrosis and CF-Related Disorders NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCNN1A, SCNN1B, SCNN1G, CA12, CFTR
Specificity
20 %
Genes
100 %
Cystic Fibrosis Related Disorders NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCNN1A, SCNN1B, SCNN1G, CA12
Specificity
25 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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