Romano-Ward syndrome
ORPHA:101016DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены19
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TRDN | triadin | Disease-causing germline mutation(s) in | gene with protein product | 603283 |
| KCNH2 | potassium voltage-gated channel subfamily H member 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 152427 |
| KCNQ1 | potassium voltage-gated channel subfamily Q member 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607542 |
| CAV3 | caveolin 3 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601253 |
| ANK2 | ankyrin 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 106410 |
| KCNE1 | potassium voltage-gated channel subfamily E regulatory subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 176261 |
| KCNE2 | potassium voltage-gated channel subfamily E regulatory subunit 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603796 |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600163 |
| AKAP9 | A-kinase anchoring protein 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604001 |
| SCN4B | sodium voltage-gated channel beta subunit 4 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 608256 |
| SNTA1 | syntrophin alpha 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601017 |
| KCNJ5 | potassium inwardly rectifying channel subfamily J member 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600734 |
| NOS1AP | nitric oxide synthase 1 adaptor protein | Modifying germline mutation in | gene with protein product | 605551 |
| CALM1 | calmodulin 1 | Disease-causing germline mutation(s) in | gene with protein product | 114180 |
| CALM2 | calmodulin 2 | Disease-causing germline mutation(s) in | gene with protein product | 114182 |
| SCN10A | sodium voltage-gated channel alpha subunit 10 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604427 |
| TBX5 | T-box transcription factor 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601620 |
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Disease-causing germline mutation(s) in | gene with protein product | 114205 |
| CALM3 | calmodulin 3 | Disease-causing germline mutation(s) in | gene with protein product | 114183 |
Фенотипы (HPO)13
Облигатный (100%)1
HP:0005184Prolonged QTc interval
Частый (30–79%)3
HP:0001279Syncope
HP:0001688Sinus bradycardia
HP:0005135Abnormal T-wave
Периодический (5–29%)6
HP:0001250Seizure
HP:0001645Sudden cardiac death
HP:0001664Torsade de pointes
HP:0004308Ventricular arrhythmia
HP:0012332Abnormal autonomic nervous system physiology
HP:0500018Abnormal cardiac exercise stress test
Очень редкий (1–4%)2
HP:0001197Abnormality of prenatal development or birth
HP:0002900Hypokalemia
Исключён (0%)1
HP:0000365Hearing impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 40 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)