ORPHA:595098
Timothy syndrome type 1
Synonyms: LQT8 type 1 · TS1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Timothy syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Timothy syndrome type 1 | LQT8 type 1 · TS1 |
| fr | Syndrome de Timothy type 1 | = en |
| de | Timothy -Syndrom Typ 1 | LQT8 Typ 1 · TS1 |
| es | Síndrome de Timothy tipo 1 | LQT8 tipo 1 |
| it | Sindrome di Timothy tipo 1 | LQT8 tipo 1 · TS1 |
| nl | Syndroom van Timothy type 1 | = en |
| pt | Síndrome Timothy tipo 1 | LQT8 tipo 1 · TS1 |
| pl | Zespół Timothy typu 1 | LQT8 typu 1 |
| cs | Syndrom Timothyové, typ 1 | = en |
| uk | Синдром Тімоті, тип 1 | LQT8 тип 1 · TS1 |
| zh | Timothy syndrome type 1 | = en |
| tr | Timothy syndrome type 1 | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I49.8 | NTBT | attributed | validated |
| ICD-11 | BC65.0 | NTBT | attributed | validated |
| MONDO | 0035678 | E | validated | |
| UMLS | C5574939 | 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:65283Timothy syndrome
rare cardiac diseases; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1C | Disease-causing germline mutation(s) in | Assessed | HGNC:1390 | ENSG00000151067 | 114205 | 12p13.33 | calcium voltage-gated channel subunit alpha1 C | 15454078[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/595098
- This record as JSON: /data/d/595098.json