ORPHA:719914

Congenital myasthenic syndrome due to defective nuclear membrane protein

Synonyms: CMS due to defective nuclear membrane protein

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital myasthenic syndrome due to defective nuclear membrane protein	CMS due to defective nuclear membrane protein
fr	Syndrome myasthénique congénital dû à une protéine défectueuse de la membrane nucléaire	SMC dû à une protéine défectueuse de la membrane nucléaire
de	Kongenitales myasthenes Syndrom durch LAMIN-assoziiertes Protein 1-Mangel	TOR1AIP1-assoziiertes CMS
es	Síndrome miasténico congénito por defecto en la proteína de la membrana nuclear	SMC por defecto en la proteína de la membrana nuclear
it	Sindrome miastenica congenita da difetto della proteina della membrana nucleare	CMS da difetto della proteina della membrana nucleare
nl	Congenitaal myastheen syndroom door defect van kernmembraaneiwit	CMS door defect van kernmembraaneiwit
pt	Congenital myasthenic syndrome due to defective nuclear membrane protein
pl	Congenital myasthenic syndrome due to defective nuclear membrane protein	= en
cs	Congenital myasthenic syndrome due to defective nuclear membrane protein	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:98913Postsynaptic congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TOR1AIP1	Disease-causing germline mutation(s) in	Assessed	HGNC:29456	ENSG00000143337	614512	1q25.2	torsin 1A interacting protein 1	33215087[PMID]

0 records

No prevalence record in this release.

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