ORPHA:98863
X-linked Emery-Dreifuss muscular dystrophy
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- 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 | X-linked Emery-Dreifuss muscular dystrophy | |
| fr | Dystrophie musculaire d'Emery-Dreifuss liée à l'X | |
| de | Emery-Dreifuss Muskeldystrophie, X-chromosomale | EDMD1 |
| es | Distrofia muscular de Emery-Dreifuss ligada al cromosoma X | |
| it | Distrofia muscolare di Emery-Dreifuss legata all'X | EDMD1 |
| nl | X-gebonden musculaire dystrofie van Emery-Dreifuss | EDMD1 · X-gebonden spierdystrofie van Emery-Dreifuss |
| pt | Distrofia muscular de Emery-Dreifuss ligada ao X | EDMD1 |
| pl | Dystrofia mięśniowa Emery'ego i Dreifussa sprzężona z chromosomem X | EDMD1 |
| cs | X-vázaná Emeryho-Dreifussova svalová dystrofie | EDMD1 · Emerinopatie · X-vázaná Emery-Dreifussova svalová dystrofie |
| uk | Х-зчеплена мязова дистрофія Емері-Дрейфуса | |
| zh | X-染色体连锁遗传Emery-Dreifuss肌营养不良 | |
| tr | X'e bağlı Emery-Dreifuss kas distrofisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300696 | NTBT | validated | |
| OMIM | 310300 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.2 | NTBT | index | validated |
| MONDO | 0010680 | E | validated | |
| MeSH | D000083143 | E | validated | |
| UMLS | C0751337 | 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:209188Qualitative or quantitative defects of emerin
rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EMD | Disease-causing germline mutation(s) in | Assessed | HGNC:3331 | ENSG00000102119 | 300384 | Xq28 | emerin | |
| FHL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3702 | ENSG00000022267 | 300163 | Xq26.3 | four and a half LIM domains 1 |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 20301609[PMID]_Association Française contre les Myopathies[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 20301609[PMID]_Association Française contre les Myopathies[OTHER] |
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
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:0003418 | Back pain | |
| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001288 | Gait disturbance | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| 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:0000470 | Short neck | |
| 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:0001771 | Achilles tendon contracture | |
| HP:0001678 | Atrioventricular block | |
| HP:0002987 | Elbow flexion contracture | |
| 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: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: 17620497[PMID]_19716112[PMID]_20186852[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[PMID]_21391237[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98863
- This record as JSON: /data/d/98863.json