ORPHA:595109

Atypical Timothy syndrome

Synonyms: ATS · Atypical LQT8

This disease is described under Timothy syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Atypical Timothy syndrome	ATS · Atypical LQT8
fr	Syndrome de Timothy atypique	ATS · LQT8 atypique
de	Timothy -Syndrom, atypisches	ATS · LQT8, atypisches
es	Síndrome de Timothy atípico	LQT8 atípico
it	Sindrome di Timothy atipica	ATS · LQT8 atipica
nl	Atypisch syndroom van Timothy	ATS · Atypisch LQT8
pt	Síndrome Timothy atípico	ATS · LQT8 atípico
pl	Zespół Timothy atypowy	LQT8 atypowy
cs	Atypický syndrom Timothyové	= en
uk	Атиповий синдром Тимоті	ATS · Атиповий LQT8
zh	Atypical Timothy syndrome	= en
tr	Atypical Timothy syndrome	= en

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	0021172	E		validated
UMLS	C5575746	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:65283Timothy syndrome
rare cardiac diseases; rare genetic diseases; rare neurological diseases

No children.

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	34079780[PMID]

0 records

No prevalence record in this release.

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