ORPHA:730740

Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form
fr	Défaut de maintenance de l'ADN mitochondriale associé à TK2 à début infantile, forme myopathique
de	Infantiles TK2-assoziiertes mitochondriales DNA-Depletionssyndrom, myopathische Form
es	Defecto de mantenimiento del ADN mitocondrial asociada al gen TK2 de inicio en el periodo de lactante, forma miopática
it	Difetto del mantenimento del DNA mitocondriale correlato a TK2 ad esordio neonatale, forma miopatica
nl	TK2-gerelateerd mitochondriaal DNA-handhavingsdefect beginnend op zuigelingenleeftijd, myopathische vorm
pt	Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form
pl	Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form
cs	Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609560	NTBT		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:254875TK2-related mitochondrial DNA maintenance defect, myopathic form
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TK2	Disease-causing germline mutation(s) in	Assessed	HGNC:11831	ENSG00000166548	188250	16q21	thymidine kinase 2	23230576[PMID]

0 records

No prevalence record in this release.

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