ORPHA:331223
Hyper-IgE syndrome
- Type
- Clinical group
- 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 | Hyper-IgE syndrome | |
| fr | Syndrome hyper-IgE | |
| de | Hyper IgE-Syndrom | |
| es | Síndrome de hiper IgE | |
| it | Sindrome da iper-IgE | |
| nl | Hyper-IgE-syndroom | |
| pt | Síndrome de hiper IgE | |
| pl | Zespół hiper IgE | |
| cs | Hyper-IgE-syndrom | |
| uk | Синдром гіпер-IgE | |
| zh | 高IgE综合征 | |
| tr | Hiper IgE sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A01.34 | E | specific | validated |
| MONDO | 0018037 | E | validated | |
| MONDO | 18037 | E | validated | |
| UMLS | C3887645 | E | validated | |
| GARD | 10956 | E | validated | |
| MedDRA | 10051040 | 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:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
Children (11):
- ORPHA:656912Autosomal dominant combined immunodeficiency due to ERBIN deficiency
- ORPHA:656313Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
- ORPHA:2314Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- ORPHA:656326Autosomal recessive combined immunodeficiency due to IL6R deficiency
- ORPHA:656283Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
- ORPHA:656300Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
- ORPHA:641368Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
- ORPHA:619972CADINS disease
- ORPHA:662829Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
- ORPHA:634Netherton syndrome
- ORPHA:443811PGM3-CDG
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/331223
- This record as JSON: /data/d/331223.json