Timothy syndrome
Synonyms: LQT8 · Long QT syndrome type 8 · Long QT syndrome-syndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Timothy syndrome | LQT8 · Long QT syndrome type 8 · Long QT syndrome-syndactyly syndrome |
| fr | Syndrome de Timothy | LQT8 · Syndrome du QT long type 8 · Syndrome du QT long-syndactylie |
| de | Timothy-Syndrom | LQT8 · Long-QT-Syndrom - Syndaktylie · Long-QT-Syndrom Typ 8 |
| es | Síndrome de Timothy | LQT8 · Síndrome de QT largo tipo 8 · Síndrome de QT largo-sindactilia |
| it | Sindrome di Timothy | LQT8 · Sindrome del QT lungo - sindattilia · Sindrome del QT lungo, tipo 8 |
| nl | Syndroom van Timothy | LQT8 · Lang-QT-syndroom - syndactylie-syndroom · Lang-QT-syndroom type 8 |
| pt | Síndrome Timothy | LQT8 · Síndrome QT longo-sindactilia · Síndrome de QT longo tipo 8 |
| pl | Zespół Timothy'ego | LQT8 · Zespół wydłużonego QT - syndaktylia · Zespół wydłużonego QT typu 8 |
| cs | Timothyové syndrom | LQTS8 · Syndrom dlouhého QT intervalu, typ 8 · Syndrom zahrnující dlouhý QT interval a syndaktylii |
| uk | Синдром Тімоті | Синдром подовженого інтервалу QT, тип 8 · Синдром подовженого інтервалу QT-синдром синдактилії · LQT8 |
| zh | Timothy综合征 | 长QT综合征-并指（趾）综合征 |
| tr | Timothy sendromu | LQT8 · Uzun QT sendromu tip 8 · Uzun QT sendromu-sindaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601005 | E | validated | |
| OMIM | 618447 | NTBT | validated | |
| ICD-10 | I49.8 | NTBT | attributed | validated |
| ICD-11 | BC65.0 | NTBT | index | validated |
| MONDO | 0010979 | E | validated | |
| MeSH | C536962 | E | validated | |
| UMLS | C1832916 | E | validated | |
| GARD | 9294 | E | validated | |
| MedDRA | 10079205 | 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 (3):
- ORPHA:768Congenital long QT syndrome
rare cardiac diseases; rare genetic diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CACNA1C | ORPHA:595098Timothy syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1390 | ENSG00000151067 | 114205 | 12p13.33 | calcium voltage-gated channel subunit alpha1 C | 15454078[PMID] |
| CACNA1C | ORPHA:595105Timothy syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1390 | ENSG00000151067 | 114205 | 12p13.33 | calcium voltage-gated channel subunit alpha1 C | 34079780[PMID] |
| CACNA1C | ORPHA:595109Atypical Timothy syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:1390 | ENSG00000151067 | 114205 | 12p13.33 | calcium voltage-gated channel subunit alpha1 C | 34079780[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 56 cases | Worldwide | Case(s) | Validated | 33987151[PMID]_34079780[PMID]_34844894[PMID]_36336572[PMID]_36347939[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/65283
- This record as JSON: /data/d/65283.json