Titin-related limb-girdle muscular dystrophy R10
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD type 2J · LGMD2J · Limb-girdle muscular dystrophy type 2J · Titin-related LGMD R10
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Titin-related limb-girdle muscular dystrophy R10 | Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD type 2J · LGMD2J · Limb-girdle muscular dystrophy type 2J · Titin-related LGMD R10 |
| fr | Dystrophie musculaire des ceintures liée à la titine R10 | Dystrophie musculaire des ceintures autosomique récessive type 2J · Dystrophie musculaire des ceintures type 2J · LGMD liée à la titine R10 · LGMD type 2J · LGMD2J |
| de | Titin-assoziierte Gliedergürtelmuskeldystrophie R10 | Gliedergürtelmuskeldystrophie Typ 2J · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2J · LGMD Typ 2J · LGMD2J · Titin-assoziierte LGMD R10 |
| es | Distrofia muscular de cinturas R10 asociada a titina | Distrofia muscular de cinturas autosómica recesiva tipo 2J · LGMD2J |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2J | |
| nl | Titine-gerelateerde limb-girdle-spierdystrofie R10 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2J · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2J · Autosomaal recessieve limb-girdle-spierdystrofie type 2J · LGMD type 2J · LGMD2J · Limb-girdle-spierdystrofie type 2J · Titine-gerelateerde LGMD R10 |
| pt | Distrofia muscular das cinturas dos membros R10 Titin-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2J |
| pl | Autosomalna recesywna dystrofia kończynowo-obręczowa typu 2J | LGMD2J |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2J | LGMD2J |
| uk | Титинозалежна мязова дистрофія скелетних мязів кінцівок R10 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2J · LGMD тип 2J · LGMD2J · Мязова дистрофія мязів поясу кінцівок, тип 2J · Титинозвязаний LGMD R10 |
| zh | 肢带肌萎缩症2J型 | 常染色体隐性遗传肢带肌萎缩症2J型 |
| tr | Titine bağlı ekstremite-kuşak kas distrofisi R10 | LGMD2J · LGMD tipi 2J · Titin-ilişkili LGMD R10 · Ekstremite-kavşak tipi kas distrofisi tip 2J · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2J |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608807 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0012127 | E | validated | |
| MeSH | C563854 | E | validated | |
| UMLS | C1837342 | 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:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:209053Qualitative or quantitative defects of titin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTN | Disease-causing germline mutation(s) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 20301582[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 1745277[PMID]_1487757[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1745277[PMID]_1487757[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/140922
- This record as JSON: /data/d/140922.json