Postural orthostatic tachycardia syndrome due to NET deficiency
Synonyms: Familial orthostatic tachycardia due to norepinephrine transporter deficiency · Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postural orthostatic tachycardia syndrome due to NET deficiency | Familial orthostatic tachycardia due to norepinephrine transporter deficiency · Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency |
| fr | Syndrome de tachycardie orthostatique posturale par déficit en NET | Intolérance orthostatique par déficit en NET · Tachycardie orthostatique familiale due à un déficit du transporteur de la norépinéphrine |
| de | Posturales orthostatisches Tachykardiesyndrom durch NET-Mangel | Familiäre orthostatische Tachykardie durch Noradrenalin-Transporter-Mangel · Orthostatische Intoleranz durch NET-Mangel · POTS durch NET-Mangel |
| es | Síndrome de taquicardia ortostática postural por deficiencia de NET | Intolerancia ortostática por deficiencia de NET · POTS por deficiencia de NET · Taquicardia ortostática familiar por deficiencia del transportador de norepinefrina |
| it | Tachicardia ortostatica posturale da deficit di NET | |
| nl | Posturale orthostatische tachycardie-syndroom door NET-deficiëntie | Orthostatische intolerantie door NET-deficiëntie · POTS door NET-deficiëntie · Familiale orthostatische tachycardie door norepinefrinetransporterdeficiëntie |
| pt | Síndrome de taquicardia ortostática postural por défice de NET | |
| pl | Nietolerancja ortostatyczna spowodowana niedoborem NET | Rodzinny częstoskurcz ortostatyczny spowodowany niedoborem transportera norepinefryny · Zespół częstoskurczu posturalnego spowodowanego niedoborem NET |
| cs | Posturální ortostatická tachykardie způsobená deficitem NET | Familiární ortostatická tachykardie způsobená deficitem norepinefrinového transportéru · Posturální tachykardický syndrom způsobený deficitem NET |
| uk | Синдром постуральної ортостатичної тахікардії, зумовлений дефіцитом NET | Сімейна ортостатична тахікардія внаслідок дефіциту транспортера норадреналіну · Ортостатична непереносимість через дефіцит NET · POTS через дефіцит NET |
| zh | NET缺乏所致体位性心动过速综合征 | 去甲肾上腺素转运蛋白缺乏导致家族性体位性心动过速 |
| tr | NET eksikliğine bağlı postural ortostatik taşikardi sendromu | NET eksikliğine bağlı POTS · NET eksikliğine bağlı ortostatik intolerans · Norepinefrin taşıyıcı eksikliğine bağlı ailesel ortostatik taşikardi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604715 | E | validated | |
| ICD-10 | I95.1 | NTBT | attributed | validated |
| MONDO | 0011479 | E | validated | |
| MONDO | 11479 | E | validated | |
| UMLS | C5680060 | E | validated | |
| GARD | 13591 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:521232Genetic primary orthostatic disorder
rare genetic diseases - ORPHA:521236Primary orthostatic disorder
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC6A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11048 | ENSG00000103546 | 163970 | 16q12.2 | solute carrier family 6 member 2 | 10684912[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 10684912[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10684912[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443236
- This record as JSON: /data/d/443236.json