Genetic cardiac rhythm disease

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Genetic cardiac rhythm disease

ORPHA:101934Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ABCC9AKAP9CACNA1CCACNA2D1CACNB2DPP6GATA4GATA5GATA6GJA5GNB2GNB5GPD1LHCN4KCNA5KCND3KCNE1KCNE2KCNE3KCNE5KCNH2KCNJ2KCNJ3KCNJ5KCNJ8KCNQ1LMNAMT-CYBMYH6MYL4MYO6NKX2-5NKX2-6NPPANUP155PITX2PKP2POPDC1RANGRFRYR2SCN10ASCN1BSCN2BSCN3BSCN4BSCN5ASCNN1ASEMA3ASGO1SLC4A3SLMAPTBX5TNNI3KTRPM4TTN

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Andersen-Tawil syndromeAtrial septal defect-atrioventricular conduction defects syndromeBrugada syndromeBVES-related limb-girdle muscular dystrophyCalcium release deficiency syndromeChronic atrial and intestinal dysrhythmia syndromeCongenital short QT syndromeEarly repolarization syndromeGNB5-related intellectual disability-cardiac arrhythmia syndromeHeart-hand syndrome, Slovenian typeHereditary atrial fibrillationHereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction diseaseHereditary progressive cardiac conduction defectHereditary sick sinus syndromeHistiocytoid cardiomyopathyHolt-Oram syndromeIdiopathic ventricular fibrillationIsolated atrial standstillMultifocal ectopic Purkinje-related premature contractionProgressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 19785MONDO 15110UMLS C5681782

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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