ORPHA:34514
Telethonin-related limb-girdle muscular dystrophy R7
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2G · LGMD due to telethonin deficiency · LGMD type 2G · LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency · Limb-girdle muscular dystrophy type 2G · Telethonin-related LGMD R7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Telethonin-related limb-girdle muscular dystrophy R7 | Autosomal recessive limb-girdle muscular dystrophy type 2G · LGMD due to telethonin deficiency · LGMD type 2G · LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency · Limb-girdle muscular dystrophy type 2G · Telethonin-related LGMD R7 |
| fr | Dystrophie musculaire des ceintures liée à la téléthonine R7 | Dystrophie musculaire des ceintures autosomique récessive type 2G · Dystrophie musculaire des ceintures par déficit en téléthonine · Dystrophie musculaire des ceintures type 2G · LGMD liée à la téléthonine R7 · LGMD par déficit en téléthonine · LGMD type 2G · LGMD2G |
| de | Telethonin-assoziierte Gliedergürtelmuskeldystrophie R7 | Gliedergürtelmuskeldystrophie Typ 2G · Gliedergürtelmuskeldystrophie durch Telethonin-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2G · LGMD Typ 2G · LGMD durch Telethonin-Defizienz · LGMD2G · Telethonin-assoziierte LGMD R7 |
| es | Distrofia muscular de cinturas R7 asociada a teletonina | Distrofia muscular de cinturas autosómica recesiva tipo 2G · Distrofia muscular de cinturas por deficiencia de teletonina · LGMD2G |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2G | Distrofia muscolare dei cingoli da deficit di teletonina · LGMD2G |
| nl | Telethonine-gerelateerde limb-girdle-spierdystrofie R7 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2G · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2G · Autosomaal recessieve limb-girdle-spierdystrofie type 2G · LGMD door telethoninedeficiëntie · LGMD type 2G · LGMD2G · Limb-girdle-spierdystrofie door telethoninedeficiëntie · Limb-girdle-spierdystrofie type 2G · Telethonine-gerelateerde LGMD R7 |
| pt | Distrofia muscular das cinturas dos membros R7 teletonina-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2G · Distrofia muscular das cinturas dos membros por deficiência de teletonina |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2G | Dystrofia obręczowo-kończynowa z powodu niedoboru teletoniny · LGMD2G |
| cs | Telethoninová pletencová svalová dystrofie R7 | LGMD2G · Pletencová svalová dystrofie na podkladě deficitu telethioninu |
| uk | Телетонінова кінцівково-поясна м’язова дистрофія R7 | Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2G · LGMD внаслідок дефіциту телетоніну · LGMD тип 2G · LGMD2G · Дистрофія мязів поясу кінцівок внаслідок дефіциту телетоніну · Мязова дистрофія мязів поясу кінцівок, тип 2G · LGMD R7, повязаний з телетоніном |
| zh | 肌联蛋白帽蛋白相关肢带肌营养不良R7型 | 肌联蛋白帽蛋白缺乏所致肢带肌营养不良 |
| tr | Teletonin-ilişkili ekstremite-kavşak tipi kas distrofisi R7 | LGMD2G · LGMD tipi 2G · Telethonin-ilişkili LGMD R7 · Telethonin eksikliğine bağlı LGMD · Ekstremite-kavşak tipi kas distrofisi tip 2G · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2G · Teletonin eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601954 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0011170 | E | validated | |
| MeSH | C566599 | E | validated | |
| UMLS | C1866008 | E | validated | |
| GARD | 10471 | 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 (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:209056Qualitative or quantitative defects of telethonin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TCAP | Disease-causing germline mutation(s) in | Assessed | HGNC:11610 | ENSG00000173991 | 604488 | 17q12 | titin-cap | 20301582[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 12921790[PMID]_18948002[PMID]_25298746[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12921790[PMID]_18948002[PMID]_25298746[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/34514
- This record as JSON: /data/d/34514.json