ORPHA:37553
Andersen-Tawil syndrome
Synonyms: Andersen syndrome · LQT7 · Long QT syndrome type 7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Andersen-Tawil syndrome | Andersen syndrome · LQT7 · Long QT syndrome type 7 |
| fr | Syndrome d'Andersen-Tawil | LQT7 · Syndrome d'Andersen · Syndrome du QT long type 7 |
| de | Andersen-Tawil-Syndrom | Andersen-Syndrom · LQT7 · Long-QT-Syndrom Typ 7 |
| es | Síndrome de Andersen-Tawil | LQT7 · Síndrome de Andersen · Síndrome de QT largo tipo 7 |
| it | Paralisi periodica cardiodisritmica sensibile al potassio | LQT7 · Paralisi periodica cardiodisritmica di Andersen · Sindrome del QT lungo, tipo 7 · Sindrome di Andersen · Sindrome di Andersen-Tawil |
| nl | Syndroom van Andersen-Tawil | LQT7 · Lang-QT-syndroom type 7 · Syndroom van Andersen |
| pt | Síndrome Andersen-Tawil | LQT7 · Síndrome Andersen · Síndrome de QT longo tipo 7 |
| pl | Okresowy paraliż wrażliwy na potas z arytmią serca | LQT7 · Okresowe porażenie kardiodysrytmiczne Andersena · Zespół Andersena · Zespół Andersena i Tawila · Zespół długiego QT typu 7 |
| cs | Andersenova kardiodysrytmická periodická paralýza | Kardiodysrytmická draslík-sensitivní periodická paralýza · LQT7 · Syndrom dlouhého QT 7 · Andersenův syndrom · Andersenův-Tawilův syndrom · Andersen-Tawilův syndrom |
| uk | Синдром Андерсена-Тавіла | Синдром Андерсена · Синдром подовженого інтервалу QT, тип 7 · LQT7 |
| zh | Andersen-Tawil综合征 | 长QT综合征7型 |
| tr | Andersen-Tawil sendromu | LQT7 · Andersen sendromu · Uzun QT sendromu tip 7 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 170390 | E | validated | |
| ICD-10 | G72.3 | NTBT | attributed | validated |
| ICD-11 | BC65.0 | NTBT | index | validated |
| MONDO | 0008222 | E | validated | |
| MeSH | D050030 | E | validated | |
| UMLS | C1563715 | E | validated | |
| GARD | 9453 | E | validated | |
| MedDRA | 10083859 | 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 (4):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:371433Genetic periodic paralysis
rare genetic diseases - ORPHA:98741Neurological muscular channelopathy due to a genetic potassium channel defect
rare genetic diseases; rare neurological diseases - ORPHA:206976Periodic paralysis
rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNJ2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6263 | ENSG00000123700 | 600681 | 17q24.3 | potassium inwardly rectifying channel subfamily J member 2 | 20301441[PMID]_16571646[PMID] |
| KCNJ5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6266 | ENSG00000120457 | 600734 | 11q24.3 | potassium inwardly rectifying channel subfamily J member 5 | 24574546[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Netherlands | Value and class | Validated | 29606556[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | United Kingdom | Value and class | Validated | 23516313[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
51 annotations · validated 2021-09-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001324 | Muscle weakness | Diagnostic criterion |
| HP:0003768 | Periodic paralysis | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0003752 | Episodic flaccid weakness | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000347 | Micrognathia | |
| HP:0008153 | Periodic hypokalemic paresis | |
| HP:0001657 | Prolonged QT interval | |
| HP:0004322 | Short stature | |
| HP:0004308 | Ventricular arrhythmia | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0005135 | Abnormal T-wave | |
| HP:0011073 | Abnormality of dental color | |
| HP:0005147 | Bidirectional ventricular ectopy | |
| HP:0000337 | Broad forehead | |
| HP:0000414 | Bulbous nose | |
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0000678 | Dental crowding | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0000324 | Facial asymmetry | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000677 | Oligodontia | |
| HP:0001962 | Palpitations | |
| HP:0007215 | Periodic hyperkalemic paralysis | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0006696 | Polymorphic and polytopic ventricular extrasystoles | |
| HP:0031677 | Polymorphic ventricular tachycardia | |
| HP:0005184 | Prolonged QTc interval | |
| HP:0025072 | Prominent U wave | |
| HP:0030799 | Scaphocephaly | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0012745 | Short palpebral fissure | |
| HP:0200055 | Small hand | |
| HP:0001328 | Specific learning disability | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001664 | Torsade de pointes | |
| HP:0000325 | Triangular face | |
| HP:0006682 | Ventricular extrasystoles | |
| HP:0000431 | Wide nasal bridge | |
| Very rare (<4-1%) | ||
| HP:0000089 | Renal hypoplasia | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0001279 | Syncope | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301441[PMID]_32947483[PMID]_29125635[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/37553
- This record as JSON: /data/d/37553.json