ORPHA:300755
Laminopathy with striated muscle involvement
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laminopathy with striated muscle involvement | |
| fr | Laminopathie avec atteinte des muscles striés | |
| de | Laminopathie mit Beteiligung der quergestreiften Muskulatur | |
| es | Laminopatía con afectación del músculo estriado | |
| it | Laminopatia con coinvolgimento dei muscoli striati | |
| nl | Laminopathie met betrokkenheid van gestreepte spieren | |
| pt | Laminopatia com envolvimento muscular estriado | |
| pl | Laminopatia z zaangażowaniem mięśni poprzecznie prążkowanych | |
| cs | Laminopatie se složkou příčně pruhovaného svalstva | |
| uk | Ламінопатія із залученням посмугованих мязів | |
| zh | 核纤层蛋白病累及横纹肌 | |
| tr | Çizgili kas tutulumu ile seyreden laminopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681083 | 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 (1):
- ORPHA:98301Laminopathy
rare genetic diseases
Children (8):
- ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy
- ORPHA:157973Congenital muscular dystrophy due to LMNA mutation
- ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- ORPHA:300751Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- ORPHA:168796Heart-hand syndrome, Slovenian type
- ORPHA:217656Inherited isolated arrhythmogenic cardiomyopathy
- ORPHA:54260Left ventricular noncompaction
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300755
- This record as JSON: /data/d/300755.json