ORPHA:88635

Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Synonyms: Myopathy due to calsequestrin and SERCA1 protein overload · Vacuolar aggregate myopathy

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Unknown
Age of onset: Adult
Status: active

A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	Myopathy due to calsequestrin and SERCA1 protein overload · Vacuolar aggregate myopathy
fr	Myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique	Myopathie avec agrégats de calséquestrine · Myopathie due à une surcharge en calséquestrine et SERCA1
de	Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums	Myopathie durch Calsequestrin- und SERCA1-Protein-Overload · Myopathie mit vakuolären Aggregaten
es	Miopatía vacuolar con agregación de proteínas del retículo sarcoplásmico	Miopatía por exceso de calsecuestrina y proteína SERCA1 · Miopatía vacuolar con agregados
it	Miopatia da sovraccarico di calsequestrina e proteina SERCA1
nl	Vacuolaire myopathie met proteïneaggregaten van sarcoplasmatisch reticulum	Myopathie door overschot aan calsequestrine en SERCA1-proteïne · Myopathie met vacuolaire aggregaten
pt	Miopatia por sobrecarga das proteínas calsequestrina e SERCA1
pl	Miopatia z obecnością wakuoli i agregatami białek siateczki sarkoplazmatycznej	= en
cs	Myopatie způsobená přetížením kalsekvestrinem a SERCA1 proteinem	= en
uk	Вакуолярна міопатія з агрегатами протеїнів саркоплазматичного ретикулуму	Міопатія, спричинена перевантаженням кальцестрину та білка SERCA1 · Вакуолярна агрегатна міопатія
zh	空泡性肌病伴肌浆网蛋白聚集	肌集钙蛋白和SERCA1蛋白超载所致肌病
tr	Sarkoplazmik retikulum protein agregalı vakuolar miyopati	Vakuolar agregat miyopati · Calsequestrin ve SERCA1 protein aşırı yüklenmesine bağlı miyopati

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616231	E		validated
ICD-10	G71.8	NTBT	attributed	validated
ICD-11	8C7Y	NTBT	index	validated
MONDO	0014546	E		validated
MONDO	14546	E		validated
UMLS	C4510368	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:206634Genetic skeletal muscle disease
rare genetic diseases; rare neurological diseases
ORPHA:209199Qualitative or quantitative defects of protein SERCA1
rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CASQ1	Disease-causing germline mutation(s) in	Assessed	HGNC:1512	ENSG00000143318	114250	1q23.2	calsequestrin 1	25116801[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	16714317[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_16714317[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

2 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003198	Myopathy

Run the differential on the 2 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/88635
This record as JSON: /data/d/88635.json