HNRNPDL-related limb-girdle muscular dystrophy D3
Synonyms: Autosomal dominant limb-girdle muscular dystrophy type 1G · HNRNPDL-related LGMD D3 · LGMD type 1G · LGMD1G · Limb-girdle muscular dystrophy type 1G
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HNRNPDL-related limb-girdle muscular dystrophy D3 | Autosomal dominant limb-girdle muscular dystrophy type 1G · HNRNPDL-related LGMD D3 · LGMD type 1G · LGMD1G · Limb-girdle muscular dystrophy type 1G |
| fr | Dystrophie musculaire des ceintures associée à HNRNPDL D3 | Dystrophie musculaire des ceintures autosomique dominante type 1G · Dystrophie musculaire des ceintures type 1G · LGMD associée à HNRNPDL D3 · LGMD type 1G · LGMD1G |
| de | HNRNPDL-assoziierte Gliedergürtelmuskeldystrophie D3 | Gliedergürtelmuskeldystrophie Typ 1G · Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1G · HNRNPDL-assoziierte LGMD D3 · LGMD Typ 1G · LGMD1G |
| es | Distrofia muscular de cinturas D3 asociada a HNRNPDL | Distrofia muscular de cinturas autosómica dominante tipo 1G · LGMD1G |
| it | Distrofia muscolare dei cingoli, autosomica dominante, tipo 1G | LGMD1G |
| nl | HNRNPDL-gerelateerde limb-girdle-spierdystrofie D3 | LGMD1G · Limb-girdle-spierdystrofie type 1G · Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1G · Autosomaal dominante ledemaatgordel-spierdystrofie type 1G · Autosomaal dominante limb-girdle-spierdystrofie type 1G · HNRNPDL-gerelateerde LGMD D3 · LGMD type 1G |
| pt | Distrofia muscular das cinturas dos membros D3 HNRNPDL-relacionada | Distrofia muscular das cinturas dos membros autossómica dominante tipo 1G |
| pl | Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1G | LGMD1G |
| cs | Autozomálně dominantní svalová dystrofie pletencového typu 1G | LGMD1G |
| uk | HNRNPDL-асоційована кінцівково-поясна мязова дистрофія D3 | Аутосомно-домінантна мязова дистрофія мязів пояса кінцівок, тип 1G · LGMD D3, повязаний з HNRNPDL · LGMD тип 1G · LGMD1G · Мязова дистрофія мязів поясу кінцівок, тип 1G |
| zh | HNRNPDL相关性肢带肌营养不良D3 | 常染色体显性遗传性肢带型肌营养不良1G型 |
| tr | HNRNPDL--ilişkili ekstremite-kavşak tipi kas distrofisi D3 | LGMD1G · LGMD tipi 1G · HNRNPDL-ilgili LGMD D3 · Ekstremite-kavşak tipi kas distrofisi tip 1G · Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1G |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609115 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0012193 | E | validated | |
| MeSH | C563794 | E | validated | |
| UMLS | C1836765 | 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 |
|---|---|---|---|---|---|---|---|---|
| HNRNPDL | Disease-causing germline mutation(s) in | Assessed | HGNC:5037 | ENSG00000152795 | 607137 | 4q21.22 | heterogeneous nuclear ribonucleoprotein D like | 24647604[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24647604[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24647604[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/55596
- This record as JSON: /data/d/55596.json