ORPHA:708129
Autosomal recessive ACTN2-related distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive ACTN2-related distal myopathy | |
| fr | Myopathie distale autosomique recessive associée à ACTN2 | |
| de | Distale Myopathie, ACTN2-assoziierte, autosomal-rezessive | |
| es | Miopatía distal asociada a ACTN2 autosómica recesiva | |
| it | Miopatia distale autosomica recessiva correlata ad ACTN2 | |
| nl | Autosomaal recessieve ACTN2-gerelateerde distale myopathie | |
| pt | Autosomal recessive ACTN2-related distal myopathy | |
| pl | Miopatia dystalna związana z ACTN2 o dziedziczeniu autosomalnym recesywnym | |
| cs | Autosomal recessive ACTN2-related distal myopathy |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| 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.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
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 | 38311799[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708129
- This record as JSON: /data/d/708129.json