ORPHA:101090
Hyper-IgM syndrome type 3
Synonyms: HIGM3 · Hyper-IgM syndrome due to CD40 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Hyper-IgM syndrome with susceptibility to opportunistic infections
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyper-IgM syndrome type 3 | HIGM3 · Hyper-IgM syndrome due to CD40 deficiency |
| fr | Syndrome hyper-IgM type 3 | HIGM3 · Syndrome hyper-IgM par déficit en CD40 |
| de | Hyper-IgM-Syndrom Typ 3 | HIGM3 · Hyper-IgM-Syndrom durch CD40-Mangel |
| es | Síndrome de hiper-IgM tipo 3 | HIGM3 · Síndrome de hiper-IgM por deficiencia de CD40 |
| it | Sindrome iper-IgM, tipo 3 | HIGM3 · Sindrome iper-IgM da deficit di CD40 |
| nl | Hyper-IgM-syndroom type 3 | HIGM3 · Hyper-IgM-syndroom door CD40-deficiëntie |
| pt | Síndrome hiper-IgM tipo 3 | |
| pl | Zespół hiper-IgM typu 3 | HIGM3 · Zespół hiper-IgM z powodu niedoboru CD40 |
| cs | Hyper-IgM syndrom, typ 3 | HIGM3 · Syndrom hyperimunoglobulinemie IgM, typ 3 · Hyper-IgM syndrom způsobený deficitem CD40 |
| uk | Синдром гіпер-IgM, тип 3 | HIGM3 · Синдром гіпер-IgM через дефіцит CD40 |
| zh | 高IgM综合征3型 | CD40缺陷所致高IgM综合征 |
| tr | Hiper-IgM sendromu tip 3 | HIGM3 · CD40 eksikliğine bağlı hiper-IgM sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606843 | E | validated | |
| ICD-10 | D80.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0011735 | E | validated | |
| UMLS | C1720957 | E | validated | |
| GARD | 10579 | 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:183663Hyper-IgM syndrome with susceptibility to opportunistic infections
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD40 | Disease-causing germline mutation(s) in | Assessed | HGNC:11919 | ENSG00000101017 | 109535 | 20q13.12 | CD40 molecule | 11675497[PMID] |
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101090
- This record as JSON: /data/d/101090.json