ORPHA:98855
Autosomal recessive Emery-Dreifuss muscular dystrophy
Synonyms: EDMD3
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal 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 | Autosomal recessive Emery-Dreifuss muscular dystrophy | EDMD3 |
| fr | Dystrophie musculaire d'Emery-Dreifuss autosomique récessive | DMED3 · EDMD3 |
| de | Emery-Dreifuss Muskeldystrophie, autosomal-rezessive | = en |
| es | Distrofia muscular de Emery-Dreifuss autosómica recesiva | = en |
| it | Distrofia muscolare di Emery-Dreifuss, autosomica recessiva | = en |
| nl | Autosomaal recessieve spierdystrofie van Emery-Dreifuss | = en |
| pt | Distrofia muscular de Emery-Dreifuss autossómica recessiva | = en |
| pl | Autosomalna recesywna dystrofia mięśniowa Emery'ego i Dreifussa | = en |
| cs | Autozomálně recesivní Emeryho-Dreifussova svalová dystrofie | EDMD3 · Autozomálně recesivní Emery-Dreifussova svalová dystrofie |
| uk | Аутосомно-рецесивна мязова дистрофія Емері-Дрейфуса | = en |
| zh | 常染色体隐性遗传Emery-Dreifuss肌营养不良症 | = en |
| tr | Otozomal resesif Emery-Dreifuss kas distrofisi | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616516 | BTNT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.2 | NTBT | index | validated |
| UMLS | C1450051 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 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 |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
40 annotations · validated 2018-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0001387 | Joint stiffness | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0003198 | Myopathy | |
| HP:0002486 | Myotonia | |
| HP:0000767 | Pectus excavatum | |
| Frequent (79-30%) | ||
| HP:0030117 | Absent muscle fiber emerin | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0001678 | Atrioventricular block | |
| HP:0003418 | Back pain | |
| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles | |
| HP:0001644 | Dilated cardiomyopathy | |
| 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:0001645 | Sudden cardiac death | |
| HP:0005115 | Supraventricular arrhythmia | |
| HP:0030051 | Tip-toe gait | |
| HP:0011807 | Type 1 muscle fiber atrophy | |
| HP:0005155 | Ventricular escape rhythm | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003307 | Hyperlordosis | |
| HP:0001252 | Hypotonia | |
| HP:0008064 | Ichthyosis | |
| HP:0002808 | Kyphosis | |
| HP:0009125 | Lipodystrophy | |
| HP:0001513 | Obesity | |
| HP:0002650 | Scoliosis | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 23313286[PMID]_10739764[PMID]_22431096[PMID]_5969090[PMID]_10838246[PMID]_10377322[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[PMID]_19716112[PMID]_21391237[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98855
- This record as JSON: /data/d/98855.json