ORPHA:700163
SMPX-related distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SMPX-related distal myopathy | |
| fr | Myopathie distale associée à SMPX | |
| de | Myopathie, distale, SMPX-assoziierte | |
| es | Miopatía distal asociada a SMPX | |
| it | Miopatia distale correlata a SMPX | |
| nl | SMPX-gerelateerde distale myopathie | |
| pt | SMPX-related distal myopathy | |
| pl | SMPX-related distal myopathy | |
| cs | SMPX-related distal myopathy |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301075 | E | validated | |
| 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:700143X-linked 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 |
|---|---|---|---|---|---|---|---|---|
| SMPX | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11122 | ENSG00000091482 | 300226 | Xp22.12 | small muscle protein X-linked | 33974137[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/700163
- This record as JSON: /data/d/700163.json