ORPHA:101092
Hyper-IgM syndrome type 5
Synonyms: HIGM5 · Hyper-IgM syndrome due to UNG deficiency · Hyper-IgM syndrome due to uracil N-glycosylase
- 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 5 | HIGM5 · Hyper-IgM syndrome due to UNG deficiency · Hyper-IgM syndrome due to uracil N-glycosylase |
| fr | Syndrome hyper-IgM type 5 | HIGM5 · Syndrome hyper-IgM par déficit en UNG · Syndrome hyper-IgM par déficit en uracile N-glycosylase |
| de | Hyper-IgM-Syndrom Typ 5 | HIGM5 · Hyper-IgM syndrome durch Uracil-N-Glycosylase-Mangel · Hyper-IgM-Syndrom durch UNG-Mangel |
| es | Síndrome de hiper-IgM tipo 5 | HIGM5 · Síndrome de hiper-IgM por deficiencia de UNG · Síndrome de hiper-IgM por deficiencia de uracil N glicosilasa |
| it | Sindrome iper-IgM, tipo 5 | HIGM5 · Sindrome iper-IgM da deficit di UNG · Sindrome iper-IgM da deficit di uracil-N-glicosilasi |
| nl | Hyper-IgM-syndroom type 5 | HIGM5 · Hyper-IgM-syndroom door UNG-deficiëntie · Hyper-IgM-syndroom door uracil N-glycosylase |
| pt | Síndrome hiper-IgM tipo 5 | |
| pl | Zespół hiper-IgM typu 5 | HIGM5 · Zespół hiper-IgM z powodu niedoboru UNG · Zespół hiper-IgM z powodu niedoboru uracylo N glikozylazy |
| cs | Hyper-IgM syndrom, typ 5 | HIGM5 · Syndrom hyperimunoglobulinemie IgM, typ 5 · Hyper-IgM syndrom způsobený deficitem UNG · Hyper-IgM syndrom způsobený uracil N-glykosylázou |
| uk | Синдром гіпер-IgM, тип 5 | HIGM5 · Синдром гіпер-IgM через дефіцит UNG · Синдром гіпер-IgM через урацилову N-глікозилазу |
| zh | 高IgM综合征5型 | 尿嘧啶DNA糖基酶所致高IgM综合征 |
| tr | Hiper-IgM sendromu tip 5 | HIGM5 · UNG eksikliğine bağlı hiper IgM sendromu · Urasil N-glikosilaza bağlı hiper-IgM sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608106 | E | validated | |
| ICD-10 | D80.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.05 | NTBT | index | validated |
| MONDO | 0011971 | E | validated | |
| UMLS | C1720958 | E | validated | |
| GARD | 10581 | 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:183666Hyper-IgM syndrome without susceptibility to opportunistic infections
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UNG | Disease-causing germline mutation(s) in | Assessed | HGNC:12572 | ENSG00000076248 | 191525 | 12q24.11 | uracil DNA glycosylase | 12958596[PMID]_15967827[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/101092
- This record as JSON: /data/d/101092.json