ORPHA:431272
X-linked scapuloperoneal muscular dystrophy
Synonyms: X-linked SPMD · X-linked scapuloperoneal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked scapuloperoneal muscular dystrophy | X-linked SPMD · X-linked scapuloperoneal syndrome |
| fr | Dystrophie musculaire scapulo-péronière liée à l'X | SPMD liée à l'X · Syndrome scapulo-peronier lié à l'X |
| de | X-chromosomale scapulo-peroneale Muskeldystrophie | X-chromosomale SPMD · X-chromosomales scapuloperoneales Syndrom |
| es | Distrofia muscular escapuloperoneal ligada al cromosoma X | SPMD ligado al cromosoma X · Síndrome escapuloperoneal ligado al cromosoma X |
| it | Distrofia muscolare scapolo-peroneale legata all'X | SPMD legata all'X · Sindrome scapolo-peroneale legata all'X |
| nl | X-gebonden scapuloperoneale spierdystrofie | X-gebonden SPMD · X-gebonden scapuloperoneaal syndroom · X-gebonden scapuloperoneale musculaire dystrofie |
| pt | Miopatia escapuloperoneal, ligada ao cromossoma X | |
| pl | Dystrofia łopatkowo-strzałkowa sprzężona z chromosomem X | SPMD sprzężony z chromosomem X · Zespół łopatkowo-strzałkowy sprzężony z chromosomem X |
| cs | X-vázaná skapuloperoneální svalová dystrofie | X-vázaná SPMD · X-vázaný skapuloperoneální syndrom |
| uk | Х-зчеплена скапулоперонеальна мязова дистрофія | Х-зчеплений скапулоперонеальний синдром · Х-звязаний SPMD |
| zh | X连锁遗传性肩胛腓骨部肌营养不良 | X连锁肩胛腓骨部综合征 |
| tr | X'e bağlı skapuloperoneal kas distrofisi | X bağlantılı SPMD · X bağlantılı skapuloperoneal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300695 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.5 | NTBT | attributed | validated |
| MONDO | 0010400 | E | validated | |
| UMLS | C5399872 | E | validated | |
| GARD | 7608 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:431263Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FHL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3702 | ENSG00000022267 | 300163 | Xq26.3 | four and a half LIM domains 1 | 18179901[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 18179901[PMID]_20633900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18179901[PMID]_20633900[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.
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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/431272
- This record as JSON: /data/d/431272.json