ORPHA:477647
Type 1 interferonopathy
- 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 | Type 1 interferonopathy | |
| fr | Interféronopathie type 1 | |
| de | Typ-1-Interferonopathie | |
| es | Interferonopatía tipo 1 | |
| it | Interferonopatia tipo 1 associata ad autoinfiammazione | |
| nl | Type 1 interferonopathie | |
| pt | Interferonopatia tipo 1 com autoinflamação | |
| pl | Interferonopatia typu 1 | |
| cs | Interferonopatie, typ 1 | |
| uk | Інтерферонопатія, тип 1 | |
| zh | 1型干扰素病 | |
| tr | Tip 1 interferonopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5394397 | 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:93665Autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
Children (16):
- ORPHA:51Aicardi-Goutières syndrome
- ORPHA:300345Autosomal systemic lupus erythematosus
- ORPHA:404553Deficiency of adenosine deaminase 2
- ORPHA:481662Familial Chilblain lupus
- ORPHA:319563Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ORPHA:699605NEMO deleted exon 5 autoinflammatory syndrome
- ORPHA:324977Proteasome-associated autoinflammatory syndrome
- ORPHA:481665Pseudo-TORCH syndrome type 2
- ORPHA:714429Pseudo-TORCH syndrome type 3
- ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- ORPHA:619367SAMD9L-associated autoinflammatory syndrome
- ORPHA:425120STING-associated vasculopathy with onset in infancy
- ORPHA:85191Singleton-Merten dysplasia
- ORPHA:1855Spondyloenchondrodysplasia
- ORPHA:84064Trichohepatoenteric syndrome
- ORPHA:85453X-linked reticulate pigmentary disorder
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477647
- This record as JSON: /data/d/477647.json