ORPHA:610
Bethlem muscular dystrophy
Synonyms: Bethlem myopathy · LGMD D5 collagen 6-related dystrophy · LGMD D5 collagen VI-related dystrophy · LGMD R22 collagen 6-related dystrophy · LGMD R22 collagen VI-related dystrophy · Mild form of COL6-related dystrophy · Mild form of collagen VI-related dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bethlem muscular dystrophy | Bethlem myopathy · LGMD D5 collagen 6-related dystrophy · LGMD D5 collagen VI-related dystrophy · LGMD R22 collagen 6-related dystrophy · LGMD R22 collagen VI-related dystrophy · Mild form of COL6-related dystrophy · Mild form of collagen VI-related dystrophy |
| fr | Dystrophie musculaire de Bethlem | Dystrophie musculaire liée au collagène 6, forme atténuée · Dystrophie musculaire liée au collagène VI, forme atténuée · LGMD liée au collagène VI D5 · LGMD liée au collagène VI R22 · Myopathie de Bethlem |
| de | Bethlem-Muskeldystrophie | Bethlem-Myopathie · LGMD D5 Kollagen 6-assoziierte Dystrophie · LGMD D5 Kollagen VI-bedingte Dystrophie · LGMD R22 Kollagen 6-assoziierte Dystrophie · LGMD R22 Kollagen VI-bedingte Dystrophie · Milde Form der COL6-assoziierten Dystrophie · Milde Form der Kollagen VI-assoziierten Dystrophie |
| es | Distrofia muscular de Bethlem | Distrofia LGMD D5 asociada al colágeno 6 · Distrofia LGMD D5 asociada al colágeno VI · Distrofia LGMD R22 asociada al colágeno 6 · Distrofia LGMD R22 asociada al colágeno VI · Forma leve de la distrofia asociada a COL6 · Forma leve de la distrofia asociada al colágeno VI · Miopatía de Bethlem |
| it | Distrofia muscolare di Bethlem | Forma lieve della distrofia correlata a COL6 · Forma lieve della distrofia correlata al collagene VI · LGMD correlata al collagene 6 D5 · LGMD correlata al collagene 6 R22 · LGMD correlata al collageneVI D5 · LGMD correlata al collageneVI R22 · Miopatia di Bethlem |
| nl | Spierdystrofie van Bethlem | Bethlem-myopathie · LGMD D5 collageen 6-gerelateerde dystrofie · LGMD D5 collageen VI-gerelateerde dystrofie · LGMD R22 collageen 6-gerelateerde dystrofie · LGMD R22 collageen VI-gerelateerde dystrofie · Milde vorm van COL6-gerelateerde dystrofie · Milde vorm van collageen VI-gerelateerde dystrofie |
| pt | Distrofia muscular Bethlem | Distrofia COL6-relacionada forma moderada · Distrofia LGMD D5 colagénio 6-relacionada · Distrofia LGMD D5 colagénio VI-relacionada · Distrofia LGMD R22 colagénio 6-relacionada · Distrofia LGMD R22 colagénio VI-relacionada · Distrofia colagénio VI-relacionada forma moderada · Miopatia Bethlem |
| pl | Miopatia Bethlema | Łagodna miopatia autosomalna dominująca |
| cs | Bethlemova myopatie | Benigní autozomálně dominantní myopatie |
| uk | Мязова дистрофія Бетлема | Міопатія Бетлема · LGMD D5 колаген 6-асоційована дистрофія · LGMD D5 колагенова дистрофія, повязана з колагеном VI · LGMD R22 колагенова дистрофія, повязана з колагеном 6 · LGMD R22 колагенова дистрофія, повязана з колагеном VI · Легка форма COL6-залежної дистрофії · Легка форма колагенової дистрофії, повязаної з колагеном VI |
| zh | Bethlem肌病 | 良性常染色体显性肌病 |
| tr | Bethlem miyopatisi | Selim otozomal dominant miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158810 | BTNT | validated | |
| OMIM | 616471 | BTNT | validated | |
| OMIM | 620725 | BTNT | validated | |
| OMIM | 620726 | BTNT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0008029 | E | validated | |
| MeSH | C535436 | E | validated | |
| UMLS | C1834674 | E | validated | |
| GARD | 873 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:646098Collagen VI-related congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL12A1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2188 | ENSG00000111799 | 120320 | 6q13-q14.1 | collagen type XII alpha 1 chain | 24334769[PMID]_24334604[PMID] |
| COL6A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2211 | ENSG00000142156 | 120220 | 21q22.3 | collagen type VI alpha 1 chain | 20301676[PMID] |
| COL6A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2212 | ENSG00000142173 | 120240 | 21q22.3 | collagen type VI alpha 2 chain | 20301676[PMID] |
| COL6A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2213 | ENSG00000163359 | 120250 | 2q37.3 | collagen type VI alpha 3 chain | 20301676[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.77 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
39 annotations · validated 2021-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001371 | Flexion contracture | |
| HP:0001324 | Muscle weakness | |
| HP:0003560 | Muscular dystrophy | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0030095 | Reduced muscle collagen VI | |
| Frequent (79-30%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0001288 | Gait disturbance | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0001220 | Interphalangeal joint contracture of finger | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000467 | Neck muscle weakness | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0001239 | Wrist flexion contracture | |
| Occasional (29-5%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001073 | Cigarette-paper scars | |
| HP:0010176 | Curved toe phalanx | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0003391 | Gowers sign | |
| HP:0000962 | Hyperkeratosis | |
| HP:0002791 | Hypoventilation | |
| HP:0001382 | Joint hypermobility | |
| HP:0032152 | Keratosis pilaris | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0012497 | Reduced maximal expiratory pressure | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003691 | Scapular winging | |
| HP:0002650 | Scoliosis | |
| HP:0003306 | Spinal rigidity | |
| HP:0002515 | Waddling gait | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 31471117[PMID]_30706156[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/610
- This record as JSON: /data/d/610.json