Hypokalemic Periodic Paralysis, Type 1; Hokpp1

Description

There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, {188580}), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypokalemic Periodic Paralysis, Type 1; Hokpp1

  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Myopathy
  • Acidosis
  • Paralysis
  • Generalized muscle weakness
  • Syncope
  • Palpitations
  • Hypokalemia

And another 9 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

Hypokalemic Periodic Paralysis, Type 1; Hokpp1 Is also known as hypokalemic periodic paralysis, hokpp.

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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Hypokalemic Periodic Paralysis, Type 1; Hokpp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Malignant Hyperthermia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, CACNA1S
Specificity
50 %
Genes
100 %
Periodic Paralysis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
100 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
CACNA1S Sequencing.

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

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S Deletion/duplication analysis.

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

CACNA1S
Specificity
100 %
Genes
100 %
Hypokalemic Periodic Paralysis.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S. Complete sequencing.

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

CACNA1S
Specificity
100 %
Genes
100 %
CACNA1S. Detection of the mutations p.Arg528His, p.Arg528Gly, p.Arg897Ser, p.Arg1239His and p.Arg1239Gly by sequencing.

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

CACNA1S
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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