Myotonia congenita, atypical, acetazolamide-responsive

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Subtype of: Congenital myotonia · Myotonia
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Myotonia congenita, atypical, acetazolamide-responsive
MONDO_0018959
SCN4A Causal
28779239 23801527 32978841 17998485
Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Myotonia congenita, atypical, acetazolamide-responsive.
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Potassium-aggravated myotonia 1 shared geneSCN4A Related via 1 shared gene including SCN4A. Myopathy, autosomal recessive 1 shared geneSCN4A Related via 1 shared gene including SCN4A. Hypokalemic periodic paralysis, type 2 1 shared geneSCN4A Related via 1 shared gene including SCN4A. Congenital myopathy 22b, severe fetal 1 shared geneSCN4A Related via 1 shared gene including SCN4A. Paramyotonia congenita 1 shared geneSCN4A Related via 1 shared gene including SCN4A.