ORPHA:636965

Autosomal dominant myosin storage myopathy

Synonyms: MSMA

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant myosin storage myopathy	MSMA
fr	Myopathie autosomale dominante avec surcharge en myosine	= en
de	Myosin-Speicher-Myopathie, autosomal-dominante	= en
es	Miopatía por almacenamiento de miosina autosómica dominante	= en
it	Miopatia autosomica dominante da accumulo di miosina	= en
nl	Autosomaal dominante myopathie met myosinestapeling	= en
pt	Miopatia de armazenamento da miosina autossómica dominante	= en
pl	Autosomalna dominująca miopatia ze spichrzaniem miozyny	= en
cs	Autozomálně dominantní myopatie s ukládáním myozinu	= en
uk	Аутосомно-домінантна міопатія з накопиченням міозину	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	608358	E		validated
ICD-10	G72.8	NTBT	attributed	validated
ICD-11	8C72.0Y	NTBT	attributed	validated
MONDO	0008409	E		validated
UMLS	C5848107	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:53698Myosin storage myopathy
rare genetic diseases; rare neurological diseases

No children.

Codes that Orphanet moved or referred to this one:

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MYH7	Disease-causing germline mutation(s) in	Assessed	HGNC:7577	ENSG00000092054	160760	14q11.2	myosin heavy chain 7	21288719[PMID]

0 records

No prevalence record in this release.

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