raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:595105

Timothy syndrome type 2

Synonyms: LQT8 type 2 · TS2

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
LangNameSynonyms
enTimothy syndrome type 2LQT8 type 2 · TS2
frSyndrome de Timothy type 2= en
deTimothy -Syndrom Typ 2LQT8 Typ 2 · TS2
esSíndrome de Timothy tipo 2LQT8 tipo 2
itSindrome di Timothy tipo 2TS2 · LQT8 tipo 2
nlSyndroom van Timothy type 2= en
ptSíndrome Timothy tipo 2LQT8 tipo 2 · TS2
plZespół Timothy typu 2LQT8 typu 2
csSyndrom Timothyové, typ 2= en
ukСиндром Тімоті, тип 2LQT8 тип 2 · TS2
zhTimothy syndrome type 2= en
trTimothy syndrome type 2= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10I49.8NTBTattributedvalidated
ICD-11BC65.0NTBTattributedvalidated
MONDO0035679Evalidated
UMLSC4304347Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CACNA1CDisease-causing germline mutation(s) inAssessedHGNC:1390ENSG0000015106711420512p13.33calcium voltage-gated channel subunit alpha1 C34079780[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card