ORPHA:708133

Autosomal dominant ACTN2-related distal myopathy

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant ACTN2-related distal myopathy
fr	Myopathie distale autosomique dominante associée à ACTN2
de	Distale Myopathie, ACTN2-assoziierte, autosomal-dominante
es	Miopatía distal asociada a ACTN2 autosómica dominante
it	Miopatia distale autosomica dominante correlata ad ACTN2
nl	Autosomaal dominante ACTN2-gerelateerde distale myopathie
pt	Autosomal dominant ACTN2-related distal myopathy
pl	Miopatia dystalna związana z ACTN2 o dziedziczeniu autosomalnym dominującym
cs	Autosomal dominant ACTN2-related distal myopathy

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618655	E		validated
ICD-10	G71.0	NTBT	attributed	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 (2):

ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ACTN2	Disease-causing germline mutation(s) in	Assessed	HGNC:164	ENSG00000077522	102573	1q43	actinin alpha 2	34386585[PMID]_30900782[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		17 cases	Worldwide	Case(s)	Validated	ORPHANET
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.

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