ORPHA:334
Hereditary atrial fibrillation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary atrial fibrillation | |
| fr | Fibrillation auriculaire héréditaire | |
| de | Vorhofflimmern, familiäres | |
| es | Fibrilación auricular hereditaria | |
| it | Fibrillazione atriale familiare | |
| nl | Hereditair atriumfibrilleren | Erfelijk boezemfibrilleren |
| pt | Fibrilação auricular hereditária | |
| pl | Rodzinne migotanie przedsionków | |
| cs | Familiární fibrilace síní | |
| uk | Сімейна фібриляція передсердь | |
| zh | 家族性心房颤动 | |
| tr | Ailesel atriyal fibrilasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607554 | BTNT | validated | |
| OMIM | 608583 | E | validated | |
| OMIM | 608988 | BTNT | validated | |
| OMIM | 611493 | BTNT | validated | |
| OMIM | 611494 | BTNT | validated | |
| OMIM | 611819 | NTBT | validated | |
| OMIM | 612201 | BTNT | validated | |
| OMIM | 612240 | BTNT | validated | |
| OMIM | 613055 | BTNT | validated | |
| OMIM | 613120 | NTBT | validated | |
| OMIM | 613980 | BTNT | validated | |
| OMIM | 614022 | BTNT | validated | |
| OMIM | 614049 | BTNT | validated | |
| OMIM | 614050 | BTNT | validated | |
| OMIM | 615377 | BTNT | validated | |
| OMIM | 615378 | BTNT | validated | |
| OMIM | 615770 | BTNT | validated | |
| OMIM | 617280 | BTNT | validated | |
| OMIM | 617912 | NTBT | validated | |
| ICD-10 | I48.9 | NTBT | attributed | validated |
| ICD-11 | BC65.Y | NTBT | index | validated |
| MONDO | 0018054 | E | validated | |
| UMLS | C3468561 | E | validated | |
| GARD | 9740 | E | validated | |
| MedDRA | 10088317 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
24 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC9 | Candidate gene tested in | Not yet assessed | HGNC:60 | ENSG00000069431 | 601439 | 12p12.1 | ATP binding cassette subfamily C member 9 | 17245405[PMID] |
| KCNE1 | Candidate gene tested in | Not yet assessed | HGNC:6240 | ENSG00000180509 | 176261 | 21q22.12 | potassium voltage-gated channel subfamily E regulatory subunit 1 | 22471742[PMID] |
| SCN1B | Candidate gene tested in | Not yet assessed | HGNC:10586 | ENSG00000105711 | 600235 | 19q13.11 | sodium voltage-gated channel beta subunit 1 | 19808477[PMID] |
| KCNE2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6242 | ENSG00000159197 | 603796 | 21q22.11 | potassium voltage-gated channel subfamily E regulatory subunit 2 | 15368194[PMID] |
| KCNJ2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6263 | ENSG00000123700 | 600681 | 17q24.3 | potassium inwardly rectifying channel subfamily J member 2 | 15922306[PMID] |
| KCNQ1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6294 | ENSG00000053918 | 607542 | 11p15.5-p15.4 | potassium voltage-gated channel subfamily Q member 1 | 12522251[PMID]_22471742[PMID] |
| SCN5A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 18929244[PMID]_18378609[PMID]_24582607[PMID] |
| GATA4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 21708142[PMID]_21874226[PMID]_22552926[PMID] |
| GATA5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15802 | ENSG00000130700 | 611496 | 20q13.33 | GATA binding protein 5 | 22483626[PMID]_23175127[PMID]_23295592[PMID] |
| GATA6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 22824924[PMID]_22750565[PMID]_22257684[PMID] |
| KCNA5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6224 | ENSG00000130037 | 176267 | 12p13.32 | potassium voltage-gated channel subfamily A member 5 | 19343045[PMID]_16772329[PMID] |
| NKX2-5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 23525379[PMID]_22818067[PMID] |
| NUP155 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8063 | ENSG00000113569 | 606694 | 5p13.2 | nucleoporin 155 | 19070573[PMID] |
| PITX2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9005 | ENSG00000164093 | 601542 | 4q25 | paired like homeodomain 2 | 24333117[PMID] |
| SCN2B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10589 | ENSG00000149575 | 601327 | 11q23.3 | sodium voltage-gated channel beta subunit 2 | 19808477[PMID] |
| SCN3B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20665 | ENSG00000166257 | 608214 | 11q24.1 | sodium voltage-gated channel beta subunit 3 | 20558140[PMID]_21051419[PMID] |
| GJA5 | Disease-causing germline mutation(s) in | Assessed | HGNC:4279 | ENSG00000265107 | 121013 | 1q21.2 | gap junction protein alpha 5 | 20650941[PMID] |
| KCNJ3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6264 | ENSG00000162989 | 601534 | 2q24.1 | potassium inwardly rectifying channel subfamily J member 3 | 30764634[PMID] |
| KCNJ5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6266 | ENSG00000120457 | 600734 | 11q24.3 | potassium inwardly rectifying channel subfamily J member 5 | 30764634[PMID] |
| MYL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:7585 | ENSG00000198336 | 160770 | 17q21.32 | myosin light chain 4 | 27066836[PMID] |
| NPPA | Disease-causing germline mutation(s) in | Assessed | HGNC:7939 | ENSG00000175206 | 108780 | 1p36.22 | natriuretic peptide A | 18614783[PMID] |
| SCN4B | Disease-causing germline mutation(s) in | Assessed | HGNC:10592 | ENSG00000177098 | 608256 | 11q23.3 | sodium voltage-gated channel beta subunit 4 | 23604097[PMID] |
| NKX2-6 | Major susceptibility factor in | Not yet assessed | HGNC:32940 | ENSG00000180053 | 611770 | 8p21.2 | NK2 homeobox 6 | 25319568[PMID] |
| TTN | Major susceptibility factor in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 30333491[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
11 annotations · validated 2022-11-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0100749 | Chest pain | |
| HP:0002094 | Dyspnea | |
| HP:0003546 | Exercise intolerance | |
| HP:0012378 | Fatigue | |
| HP:0001962 | Palpitations | |
| HP:0001279 | Syncope | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0001658 | Myocardial infarction | |
| HP:0001727 | Thromboembolic stroke | |
| HP:0001907 | Thromboembolism | |
Annotation source: 31869399[PMID]_32273045[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/334
- This record as JSON: /data/d/334.json