ORPHA:699605
NEMO deleted exon 5 autoinflammatory syndrome
Synonyms: NDAS · NEMO-NDAS · NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome · SAID due to NEMO exon 5 deletion · Systemic autoinflammatory disease due to NEMO exon 5 deletion
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NEMO deleted exon 5 autoinflammatory syndrome | NDAS · NEMO-NDAS · NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome · SAID due to NEMO exon 5 deletion · Systemic autoinflammatory disease due to NEMO exon 5 deletion |
| fr | Syndrome autoinflammatoire par délétion de l'exon 5 de NEMO | NDAS · NEMO-NDAS · Syndrome autoinflammatoire par délétion de l'exon 5 de la protéine NF-kappa-B essential modulator |
| de | Autoinflammatorisches Syndrom mit assoziierter Exon 5-Deletion in NEMO | NDAS · NEMO-NDAS · SAID durch Exon 5-Deletion des NEMO-Gens · Systemische autoinflammatorische Krankheit durch Exon 5-Deletion im NEMO-Gen |
| es | Síndrome autoinflamatorio por deleción del exón 5 de NEMO | EAI sistémica por deleción del exón 5 de NEMO · Enfermedad autoinflamatoria sistémica por deleción del exón 5 de NEMO · NDAS · NEMO-NDAS · Síndrome autoinflamatorio por deleción del exón 5 del modulador esencial de NF-kappa-B |
| it | Sindrome autoinfiammatoria da delezione dell'esone 5 di NEMO | NDAS · NEMO-NDAS · Sindrome autoinfiammatoria da delezione dell'esone 5 del modulatore essenziale di NF-kappa-B · SAID da delezione dell'esone 5 di NEMO · Malattia autoinfiammatoria sistemica da delezione dell'esone 5 di NEMO |
| nl | Auto-inflammatoir syndroom door deletie van exon 5 van NEMO | Auto-inflammatoir syndroom door deletie van exon 5 van NF-kappa-B essentiële modulator · NDAS · NEMO-NDAS · SAID door deletie van exon 5 van NEMO · Systemische auto-inflammatoire ziekte door deletie van exon 5 van NEMO |
| pt | NEMO deleted exon 5 autoinflammatory syndrome | |
| pl | NEMO deleted exon 5 autoinflammatory syndrome | = en |
| cs | NEMO deleted exon 5 autoinflammatory syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301081 | 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 (3):
- ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKBKG | Disease-causing germline mutation(s) in | Assessed | HGNC:5961 | ENSG00000269335 | 300248 | Xq28 | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | 31874111[PMID]_35289316[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/699605
- This record as JSON: /data/d/699605.json