ORPHA:723146
Hyper-IgM syndrome due to INO80 deficiency
Synonyms: HIGM due to INO80 deficiency · Hyper-IgM syndrome due to INO80 complex ATPase subunit deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyper-IgM syndrome due to INO80 deficiency | HIGM due to INO80 deficiency · Hyper-IgM syndrome due to INO80 complex ATPase subunit deficiency |
| fr | Syndrome hyper-IgM par déficit en INO80 | Syndrome hyper-IgM par déficit en protéine INO80 complex ATPase subunit · HIGM par déficit en INO80 |
| de | Hyper-IgM-Syndrom durch INO80-Mangel | HIGM durch INO80-Defizienz · Hyper-IgM-Syndrom durch Mangel der ATPase-Untereinheit des INO80-Komplexes |
| es | Síndrome de hiper-IgM por deficiencia de INO80 | HIGM por deficiencia de INO80 · Síndrome de hiper-IgM por deficiencia de la subunidad ATPasa del complejo INO80 |
| it | Sindrome iper-IgM da deficit di INO80 | HIGM da deficit di INO80 · Sindrome iper-IgM da deficit della subunità ATPasi del complesso INO80 |
| nl | Hyper-IgM-syndroom door INO80-deficiëntie | HIGM door INO80-deficiëntie · Hyper-IgM-syndroom door deficiëntie van 'INO80 complex ATPase subunit' · Hyper-IgM-syndroom door deficiëntie van ATPase-subeenheid van INO80-complex |
| pt | Hyper-IgM syndrome due to INO80 deficiency | |
| pl | Hyper-IgM syndrome due to INO80 deficiency | = en |
| cs | Hyper-IgM syndrome due to INO80 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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 |
|---|---|---|---|---|---|---|---|---|
| INO80 | Disease-causing germline mutation(s) in | Assessed | HGNC:26956 | ENSG00000128908 | 610169 | 15q15.1 | INO80 complex ATPase subunit | 25312759[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25312759[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25312759[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/723146
- This record as JSON: /data/d/723146.json