DNAJB6-related limb-girdle muscular dystrophy D1
Synonyms: Autosomal dominant limb-girdle muscular dystrophy type 1D · DNAJB6-related LGMD D1 · LGMD type 1D · LGMD1D · Limb-girdle muscular dystrophy type 1D
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DNAJB6-related limb-girdle muscular dystrophy D1 | Autosomal dominant limb-girdle muscular dystrophy type 1D · DNAJB6-related LGMD D1 · LGMD type 1D · LGMD1D · Limb-girdle muscular dystrophy type 1D |
| fr | Dystrophie musculaire des ceintures associée à DNAJB6 D1 | Dystrophie musculaire des ceintures autosomique dominante type 1D · Dystrophie musculaire des ceintures type 1D · LGMD associée à DNAJB6 D1 · LGMD type 1D · LGMD1D |
| de | DNAJB6-assoziierte Gliedergürtelmuskeldystrophie D1 | DNAJB6-assoziierte LGMD D1 · Gliedergürtelmuskeldystrophie Typ 1D · Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1D · LGMD Typ 1D · LGMD1D |
| es | Distrofia muscular de cinturas D1 asociada a DNAJB6 | Distrofia muscular de cinturas autosómica dominante tipo 1D · LGMD1D |
| it | Distrofia muscolare dei cingoli, autosomica dominante, tipo 1D | LGMD1D |
| nl | DNAJB6-gerelateerde limb-girdle-spierdystrofie D1 | Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1D · Autosomaal dominante ledemaatgordel-spierdystrofie type 1D · Autosomaal dominante limb-girdle-spierdystrofie type 1D · DNAJB6-gerelateerde LGMD D1 · LGMD type 1D · LGMD1D · Limb-girdle-spierdystrofie type 1D |
| pt | Distrofia muscular das cinturas dos membros D1 DNAJB6-relacionada | Distrofia muscular das cinturas dos membros autossómica dominante tipo 1D |
| pl | Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1D | LGMD1D |
| cs | Autozomálně dominantní pletencová svalová dystrofie, typ 1D | LGMD1D |
| uk | ДНКJB6-звязана кінцівково-поясна м’язова дистрофія D1 | Аутосомно-домінантна мязова дистрофія скелетних мязів кінцівок, тип 1D · LGMD D1, повязаний з DNAJB6 · LGMD тип 1D · LGMD1D · Мязова дистрофія мязів поясу кінцівок, тип 1D |
| zh | DNAJB6相关肢带肌营养不良D1型 | 常染色体显性遗传肢带肌营养不良症1D型 |
| tr | DNAJB6-ilişkili ekstremite-kavşak tipi kas distrofisi D1 | LGMD1D · LGMD tipi 1D · DNAJB6 -ilişkili LGMD D1 · Ekstremite-kavşak tipi kas distrofisi tip 1D · Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1D |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603511 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0021018 | E | validated | |
| MeSH | C566370 | E | validated | |
| UMLS | C3501858 | 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 |
|---|---|---|---|---|---|---|---|---|
| DNAJB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:14888 | ENSG00000105993 | 611332 | 7q36.3 | DnaJ heat shock protein family (Hsp40) member B6 | 22366786[PMID]_22334415[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 26847086[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26847086[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
12 annotations · validated 2017-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003324 | Generalized muscle weakness | |
| Frequent (79-30%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| Occasional (29-5%) | ||
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0002505 | Loss of ambulation | |
| HP:0003715 | Myofibrillar myopathy | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0030951 | Skeletal muscle fibrosis | |
| Very rare (<4-1%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0010548 | Percussion myotonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26847086[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/34516
- This record as JSON: /data/d/34516.json