ORPHA:98853
Autosomal dominant Emery-Dreifuss muscular dystrophy
Synonyms: EDMD2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
This disease is described under Emery-Dreifuss muscular dystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Emery-Dreifuss muscular dystrophy | EDMD2 |
| fr | Dystrophie musculaire d'Emery-Dreifuss autosomique dominante | DMED2 · EDMD2 |
| de | Emery-Dreifuss Muskeldystrophie, autosomal-dominante | = en |
| es | Distrofia muscular de Emery-Dreifuss autosómica dominante | = en |
| it | Distrofia muscolare di Emery-Dreifuss, autosomica dominante | = en |
| nl | Autosomaal dominante spierdystrofie van Emery-Dreifuss | = en |
| pt | Distrofia muscular de Emery-Dreifuss autossómica dominante | = en |
| pl | Autosomalna dominująca dystrofia mięśniowa Emery'ego i Dreifussa | = en |
| cs | Autozomálně dominantní Emery-Dreifussova svalová dystrofie | = en |
| uk | Аутосомно-домінантна мязова дистрофія Емері-Дрейфуса | = en |
| zh | 常染色体显性遗传Emery-Dreifuss肌营养不良症 | = en |
| tr | Otozomal dominant Emery-Dreifuss kas distrofisi | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181350 | BTNT | validated | |
| OMIM | 612998 | BTNT | validated | |
| OMIM | 612999 | BTNT | validated | |
| OMIM | 614302 | BTNT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.2 | NTBT | index | validated |
| MONDO | 0020336 | E | validated | |
| UMLS | C0410190 | 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:261Emery-Dreifuss muscular dystrophy
rare cardiac diseases; rare genetic diseases; rare neurological diseases; rare transplant-related disorders - ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:264Autosomal dominant limb-girdle muscular dystrophy type 1B moved to · inactive
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | |
| SYNE1 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:17089 | ENSG00000131018 | 608441 | 6q25.2 | spectrin repeat containing nuclear envelope protein 1 | |
| SYNE2 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:17084 | ENSG00000054654 | 608442 | 14q23.2 | spectrin repeat containing nuclear envelope protein 2 | |
| TMEM43 | Disease-causing germline mutation(s) in | Assessed | HGNC:28472 | ENSG00000170876 | 612048 | 3p25.1 | transmembrane protein 43 | 21391237[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
44 annotations · validated 2018-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001387 | Joint stiffness | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0003198 | Myopathy | |
| HP:0002486 | Myotonia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001315 | Reduced tendon reflexes | |
| Frequent (79-30%) | ||
| HP:0030117 | Absent muscle fiber emerin | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0003418 | Back pain | |
| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| HP:0008956 | Proximal lower limb amyotrophy | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0008948 | Proximal upper limb amyotrophy | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003691 | Scapular winging | |
| HP:0003306 | Spinal rigidity | |
| HP:0000912 | Sprengel anomaly | |
| HP:0030051 | Tip-toe gait | |
| HP:0011807 | Type 1 muscle fiber atrophy | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0001678 | Atrioventricular block | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0003307 | Hyperlordosis | |
| HP:0001252 | Hypotonia | |
| HP:0008064 | Ichthyosis | |
| HP:0002808 | Kyphosis | |
| HP:0009125 | Lipodystrophy | |
| HP:0001513 | Obesity | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0005115 | Supraventricular arrhythmia | |
| Very rare (<4-1%) | ||
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0001645 | Sudden cardiac death | |
| HP:0005155 | Ventricular escape rhythm | |
| HP:0001605 | Vocal cord paralysis | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 5969090[PMID]_10838246[PMID]_10377322[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[PMID]_19716112[PMID]_21391237[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98853
- This record as JSON: /data/d/98853.json