ORPHA:101088
X-linked hyper-IgM syndrome
Synonyms: HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency · Hyper-IgM syndrome due to CD40L deficiency · Hyper-IgM syndrome type 1 · XHIGM
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked 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 | X-linked hyper-IgM syndrome | HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency · Hyper-IgM syndrome due to CD40L deficiency · Hyper-IgM syndrome type 1 · XHIGM |
| fr | Syndrome hyper-IgM lié à l'X | HIGM1 · Syndrome hyper-IgM par déficit en CD40L · Syndrome hyper-IgM par déficit en ligand de CD40 · Syndrome hyper-IgM type 1 · XHIGM |
| de | Hyper-IgM-Syndrom, X-chromosomales | HIGM1 · Hyper-IgM-Syndrom Typ 1 · Hyper-IgM-Syndrom durch CD40-Liganden-Mangel · XHIGM |
| es | Síndrome de hiper-IgM ligado al cromosoma X | HIGM1 · Síndrome de hiper-IgM por deficiencia de CD40L · Síndrome de hiper-IgM por deficiencia del ligando de CD40 · Síndrome de hiper-IgM tipo 1 · XHIGM |
| it | Sindrome iper-IgM legata all'X | HIGM1 · Sindrome iper-IgM da deficit del ligando CD40 · Sindrome iper-IgM da deficit di CD40L · Sindrome iper-IgM, tipo 1 · XHIGM |
| nl | X-gebonden hyper-IgM-syndroom | Hyper-IgM-syndroom type 1 · XHIGM · HIGM1 · Hyper-IgM-syndroom door CD40-liganddeficiëntie · Hyper-IgM-syndroom door CD40L-deficiëntie |
| pt | Síndrome hiper-IgM tipo 1 | |
| pl | Zespół hiper-IgM sprzężony z chromosomem X | HIGM1 · XHIGM · Zespół hiper-IgM typu 1 · Zespół hiper-IgM z powodu niedoboru CD40L · Zespół hiper-IgM z powodu niedoboru ligandy CD40 |
| cs | X-vázaný hyper-IgM syndrom | HIGM1 · Hyper-IgM syndrom, typ 1 · XHIGM · Syndrom hyperimunoglobulinemie IgM · Hyper-IgM syndrom způsobený deficitem CD40 ligandu · Hyper-IgM syndrom způsobený deficitem CD40L |
| uk | Х-зчеплений синдром гіпер-IgM | HIGM1 · Синдром гіпер-IgM через дефіцит ліганду CD40 · Синдром гіпер-IgM через дефіцит CD40L · Синдром гіпер-IgM, тип 1 · XHIGM |
| zh | X连锁遗传高IgM综合征 | CD41配体缺陷所致高lgM综合征 |
| tr | X'e bağlı hiper IgM sendromu | HIGM1 · XHIGM · Hiper-IgM sendromu tip 1 · CD40L eksikliğine bağlı hiper-IgM sendromu · CD40 ligand eksikliğine bağlı hiper-IgM sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308230 | E | validated | |
| ICD-10 | D80.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0010626 | E | validated | |
| MeSH | D053307 | E | validated | |
| UMLS | C0398689 | E | validated | |
| GARD | 73 | 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:183663Hyper-IgM syndrome with susceptibility to opportunistic infections
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD40LG | Disease-causing germline mutation(s) in | Assessed | HGNC:11935 | ENSG00000102245 | 300386 | Xq26.3 | CD40 ligand |
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/101088
- This record as JSON: /data/d/101088.json