ORPHA:101089
Hyper-IgM syndrome type 2
Synonyms: AID deficiency · Activation-induced cytidine deaminase deficiency · HIGM2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Hyper-IgM syndrome without susceptibility to opportunistic infections
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyper-IgM syndrome type 2 | AID deficiency · Activation-induced cytidine deaminase deficiency · HIGM2 |
| fr | Syndrome hyper-IgM type 2 | Déficit en AID · Déficit en activation-induced cytidine deaminase · HIGM2 |
| de | Hyper-IgM-Syndrom Typ 2 | AID-Mangel · Activation-induced Cytidine-Deaminase-Mangel · HIGM2 |
| es | Síndrome de hiper-IgM tipo 2 | Deficiencia de AID · Deficiencia de citidina deaminasa inducida por activación · HIGM2 |
| it | Sindrome iper-IgM, tipo 2 | Deficit di AID · Deficit di citidina deaminasi indotta da attivazione · HIGM2 |
| nl | Hyper-IgM-syndroom type 2 | AID-deficiëntie · Activatie-geïnduceerde cytidinedeaminasedeficiëntie · HIGM2 |
| pt | Síndrome hiper-IgM tipo 2 | |
| pl | Zespół hiper-IgM typu 2 | HIGM2 · Niedobór AID · Niedobór deaminazy cytydyny indukowanej aktywacją limfocytów |
| cs | Hyper-IgM syndrom, typ 2 | AID deficit · Deficit cytidin deaminázy indukovaný aktivitou · HIGM2 · Syndrom hyperimunoglobulinemie IgM, typ 2 |
| uk | Синдром гіпер-IgM, тип 2 | Дефіцит цитидиндезамінази, спричинений активацією · Дефіцит AID · HIGM2 |
| zh | 高IgM综合征2型 | 活性胞苷脱氨酶缺陷 |
| tr | Hiper-IgM sendromu tip 2 | HIGM2 · AID eksikliği · Aktivasyon kaynaklı sitidin deaminaz eksikliği |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605258 | E | validated | |
| ICD-10 | D80.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.05 | NTBT | index | validated |
| MONDO | 0011528 | E | validated | |
| UMLS | C1720956 | E | validated | |
| GARD | 10578 | 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 (2):
- ORPHA:183666Hyper-IgM syndrome without 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 |
|---|---|---|---|---|---|---|---|---|
| AICDA | Disease-causing germline mutation(s) in | Assessed | HGNC:13203 | ENSG00000111732 | 605257 | 12p13.31 | activation induced cytidine deaminase | 11007475[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/101089
- This record as JSON: /data/d/101089.json