ORPHA:596759
RELA haploinsufficiency-associated inflammatory disease
Synonyms: RAID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RELA haploinsufficiency-associated inflammatory disease | RAID |
| fr | Déficit immunitaire combiné par haploinsuffisance en RELA | = en |
| de | RELA-Haploinsuffizienz-Syndrom | Behcet-artiges familiäres autoinflammatorisches Syndrom Typ 3 · RELA-Haploinsuffizienz-assoziierte inflammatorische Erkrankung · RAID |
| es | Enfermedad inflamatoria asociada a haploinsuficiencia de RELA | = en |
| it | Immunodeficienza combinata da aploinsufficienza di Rela | RAID · Immunodeficienza combinata da aploinsufficienza del proto-oncogene RELA, subunità NF-kB |
| nl | Inflammatoire aandoening geassocieerd met RELA-haploinsufficiëntie | = en |
| pt | Imunodeficiência combinada devida a haploinsuficiência RELA | Doença inflamatória RELA-associada · IDC devido a haploinsuficiência RELA · Imunodeficiência combinada devido a haploinsuficiência de proto-oncogene RELA, subunidade NF-kB · RAID |
| pl | Skojarzony niedobór odporności spowodowany haploinsuficjencją RELA | = en |
| cs | Kombinovaná imunodeficience způsobená haploinsuficiencí RELA | = en |
| uk | Комбінований імунодефіцит, зумовлений гаплонедостатністю RELA | КІД внаслідок гаплонедостатності RELA |
| zh | Combined immunodeficiency due to RELA haploinsufficiency | CID due to RELA haploinsufficiency |
| tr | Combined immunodeficiency due to RELA haploinsufficiency | CID due to RELA haploinsufficiency |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618287 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 0035694 | E | validated | |
| UMLS | C5680288 | 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 (5):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:480549Non-severe combined immunodeficiency
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 - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RELA | Disease-causing germline mutation(s) in | Assessed | HGNC:9955 | ENSG00000173039 | 164014 | 11q13.1 | RELA proto-oncogene, NF-kB subunit | 32969189[PMID]_28600438[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28600438[PMID]_29305315[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28600438[PMID]_29305315[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/596759
- This record as JSON: /data/d/596759.json