ORPHA:700170
DNAJB4-related distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DNAJB4-related distal myopathy | |
| fr | Myopathie distale associée à DNAJB4 | |
| de | Myopathie, distale, DNAJB4-assoziierte | |
| es | Miopatía distal asociada a DNAJB4 | |
| it | Debolezza asimmetrica del pollice e della presa della mano-miopatia distale | Miopatia distale correlata a DNAJB4 |
| nl | DNAJB4-gerelateerde distale myopathie | |
| pt | Asymetric thumb-handgrip weakness-distal myopathy | |
| pl | Miopatia dystalna związana z DNAJB4 | |
| cs | DNAJB4-related distal myopathy |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.0 | NTBT | attributed | not yet validated |
| ICD-11 | 8C75 | NTBT | attributed | not yet 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:206650Autosomal dominant 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 |
|---|---|---|---|---|---|---|---|---|
| DNAJB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:14886 | ENSG00000162616 | 611327 | 1p31.1 | DnaJ heat shock protein family (Hsp40) member B4 | 39468638[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/700170
- This record as JSON: /data/d/700170.json