Calpain-3-related limb-girdle muscular dystrophy D4
Synonyms: LGMD type D4 · LGMD1I · Limb-girdle muscular dystrophy type D4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Calpain-3-related limb-girdle muscular dystrophy D4 | LGMD type D4 · LGMD1I · Limb-girdle muscular dystrophy type D4 |
| fr | Dystrophie musculaire des ceintures liée à la calpaïne-3 D4 | Dystrophie musculaire des ceintures type D4 · LGMD liée à la calpaïne-3 D4 · LGMD type D4 · LGMD1I |
| de | Calpain 3-assoziierte Gliedergürtelmuskeldystrophie D4 | LGMD Typ D4 · LGMD1I |
| es | Distrofia muscular de cinturas D4 asociada a la calpaína-3 | LGMD1I |
| it | Distrofia muscolare dei cingoli tipo D4 correlata alla calpaina-3 | Distrofia muscolare dei cingoli tipo D4 · LGMD D4 correlata alla calpaina-3 · LGMD tipo D4 · LGMD1I |
| nl | Calpaïne-3-gerelateerde limb-girdle-spierdystrofie D4 | LGMD1I |
| pt | Distrofia das cinturas musculares dos membros D4 calpaína-relacionada | |
| pl | Dystrofia mięśniowa kończynowo-obręczowa związana z kalpainą - 3, D4 | Dystrofia mięśniowa kończynowo-obręczowa typ D4 |
| cs | Svalová dystrofie končetin D4 související s kalpainem-3 | = en |
| uk | Кінцівково-поясна мязова дистрофія D4, повязана з кальпаїн-3 | LGMD тип D4 · LGMD1I · Мязова дистрофія мязів поясу кінцівок, тип D4 |
| zh | Calpain-3相关的肢肌营养不良 D4型 | 肢肌营养不良 D4型 |
| tr | Kalpain-3-ilişkili ekstremite kavşak tip kas distrofisi D4 | LGMD1I · LGMD tip D4 · Calpain-3-ilişkili LGMD D4 · Ekstremite-kavşak tipi kas distrofisi tip D4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618129 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0035433 | E | validated | |
| MONDO | 29133 | E | validated | |
| MONDO | 35433 | E | validated | |
| UMLS | C4748295 | 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:102014Autosomal dominant limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207104Qualitative or quantitative defects of calpain
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAPN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1480 | ENSG00000092529 | 114240 | 15q15.1 | calpain 3 | 28881388[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27259757[PMID]_28881388[PMID]_30055862[PMID] |
| Cases/families | 47 cases | Worldwide | Case(s) | Validated | 27259757[PMID]_28881388[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/565909
- This record as JSON: /data/d/565909.json