SCN4A-related channelopathy

Summary

SCN4A-related channelopathy (MONDO:0800468) is a disease. A subtype of muscular channelopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	SCN4A-related channelopathy
Mondo ID	MONDO:0800468
GARD	0026568
Is cancer (heuristic)	no

Also known as: SCN4A-related channelopathy

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of muscular channelopathy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neuromuscular disease › muscular channelopathy › SCN4A-related channelopathy

Related subtypes (11): Andersen-Tawil syndrome, Morvan syndrome, Thomsen and Becker disease, malignant hyperthermia of anesthesia, Isaac syndrome, RYR1-related myopathy, CNGB3-related retinopathy, neurological muscular channelopathy due to a genetic sodium channel defect, neurological muscular channelopathy due to a genetic chloride channel defect, neurological muscular channelopathy due to a genetic calcium channel defect, neurological muscular channelopathy due to a genetic potassium channel defect

Subtypes (4): paramyotonia congenita of Von Eulenburg, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, type 2, potassium-aggravated myotonia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
5908	NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	GH-LCR	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.