Congenital myopathy with excess of thin filaments
Synonyms: Actin myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myopathy with excess of thin filaments | Actin myopathy |
| fr | Myopathie congénitale avec excès de filaments fins | Myopathie avec surcharge en actine |
| de | Myopathie, kongenitale, mit Exzess dünner Filamente | Aktin-Myopathie |
| es | Miopatía congénita con exceso de filamentos delgados | Miopatía de actina |
| it | Miopatia congenita con eccesso di filamenti sottili | Miopatia da actina |
| nl | Congenitale myopathie met overmaat aan dunne filamenten | Actine myopathie |
| pt | Miopatia congénita com excesso de filamentos finos | |
| pl | Wrodzona miopatia z nadmiarem cienkich filamentów | Miopatia aktynowa |
| cs | Vrozená myopatie s nadbytkem tenkých filament | Aktinová myopatie |
| uk | Вроджена міопатія з надлишком тонких волокон | Актинова міопатія |
| zh | 先天性肌病伴过量肌动蛋白 | 肌动蛋白肌病 |
| tr | Aşırı ince filamentler ile seyreden doğumsal miyopati | Aktin miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161800 | NTBT | validated | |
| OMIM | 620265 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 8070 | E | validated | |
| UMLS | C3711389 | 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):
Parents in the classifications (2):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209059Qualitative or quantitative defects of alpha-actin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | 10508519[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98904
- This record as JSON: /data/d/98904.json