TNP03-related limb-girdle muscular dystrophy D2
Synonyms: Autosomal dominant limb-girdle muscular dystrophy type 1F · LGMD type 1F · LGMD1F · Limb-girdle muscular dystrophy type 1F
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TNP03-related limb-girdle muscular dystrophy D2 | Autosomal dominant limb-girdle muscular dystrophy type 1F · LGMD type 1F · LGMD1F · Limb-girdle muscular dystrophy type 1F |
| fr | Dystrophie musculaire des ceintures associée à TNP03 D2 | Dystrophie musculaire des ceintures autosomique dominante type 1F · Dystrophie musculaire des ceintures type 1F · LGMD associée à TNP03 D2 · LGMD type 1F · LGMD1F |
| de | TNP03-assoziierte Gliedergürtelmuskeldystrophie D2 | Gliedergürtelmuskeldystrophie Typ 1F · Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1F · LGMD Typ 1F · LGMD1F · TNP03-assoziierte LGMD D2 |
| es | Distrofia muscular de cinturas D2 asociada a TNP03 | Distrofia muscular de cinturas autosómica dominante tipo 1F · LGMD1F |
| it | Distrofia muscolare dei cingoli, autosomica dominante, tipo 1F | LGMD1F |
| nl | TNPO3-gerelateerde limb-girdle-spierdystrofie D2 | Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1F · Autosomaal dominante ledemaatgordel-spierdystrofie type 1F · Autosomaal dominante limb-girdle-spierdystrofie type 1F · LGMD type 1F · LGMD1F · Limb-girdle-spierdystrofie type 1F · TNPO3-gerelateerde LGMD D2 |
| pt | Distrofia muscular das cinturas dos membros D2 TNP03-relacionada | Distrofia muscular das cinturas dos membros dominante tipo 1F |
| pl | Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1F | LGMD1F |
| cs | Autozomálně dominantní svalová dystrofie pletencového typu 1F | LGMD1F |
| uk | TNP03-асоційована кінцівково-поясна мязова дистрофія D2 | Аутосомно-домінантна мязова дистрофія мязів пояса кінцівок, тип 1F · LGMD тип 1F · LGMD1F · Мязова дистрофія скелетних мязів кінцівок, тип 1F |
| zh | TNP03相关性肢带肌营养不良D2 | 常染色体显性遗传性肢带型肌营养不良1F型 |
| tr | TNP03--ilişkili ekstremite-kavşak tipi kas distrofisi D2 | LGMD1F · LGMD tipi 1F · TNP03-ilişkili LGMD D2 · Ekstremite-kavşak tipi kas distrofisi tip 1F · Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1F |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608423 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.40 | NTBT | index | validated |
| MONDO | 0012034 | E | validated | |
| MeSH | C564242 | E | validated | |
| UMLS | C1842062 | 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 (1):
- ORPHA:102014Autosomal dominant limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNPO3 | Disease-causing germline mutation(s) in | Assessed | HGNC:17103 | ENSG00000064419 | 610032 | 7q32.1 | transportin 3 | 23543484[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 64 cases | Worldwide | Case(s) | Validated | 23667635[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23667635[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/55595
- This record as JSON: /data/d/55595.json