ORPHA:300758
Laminopathy with peripheral neuropathy
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laminopathy with peripheral neuropathy | |
| fr | Laminopathie avec neuropathie périphérique | |
| de | Laminopathie mit peripherer Neuropathie | |
| es | Laminopatía con neuropatía periférica | |
| it | Laminopatia con neuropatia periferica | |
| nl | Laminopathie met perifere neuropathie | |
| pt | Laminopatia com neuropatia periférica | |
| pl | Laminopatia z neuropatią obwodową | |
| cs | Laminopatie s periferní neuropatií | |
| uk | Ламінопатія з периферичною нейропатією | |
| zh | 核纤层蛋白病伴周围神经病变 | |
| tr | Periferik nöropati ile seyreden laminopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681085 | 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 (1):
- ORPHA:98301Laminopathy
rare genetic diseases
Children (1):
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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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/300758
- This record as JSON: /data/d/300758.json