ORPHA:238569
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Synonyms: IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease |
| fr | Syndrome de dérèglement immunitaire-maladie inflammatoire de l'intestin-arthrite-infections récurrentes | Maladie inflammatoire de l'intestin précoce associée à IL10 |
| de | Immun-Dysregulation-inflammatorische Darmerkrankung-Arthritis-rezidivierende Infekte-Syndrom | Darmerkrankung, chronisch-entzündliche, früh-beginnende, IL10-assoziierte · IL10-abhängige früh-beginnende IBD |
| es | Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-artritis-infecciones recurrentes | EII de inicio precoz asociada a IL10 · Enfermedad inflamatoria intestinal de inicio precoz asociada a IL10 · Enfermedad inflamatoria intestinal de inicio temprano asociada a IL10 |
| it | Sindrome da anomalie immunologiche, malattia infiammatoria dell'intestino, artrite e infezioni ricorrenti | IBD autosomica recessiva a esordio precoce |
| nl | Immuundisregulatie - inflammatoire darmziekte - artritis - recidiverende infecties-syndroom | IL10-gerelateerde IBD met vroege aanvang · IL10-gerelateerde inflammatoire darmziekte met vroege aanvang |
| pt | Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infeções recorrentes | Doença inflamatória do intestino de início precoce autossómica recessiva |
| pl | Zespół zaburzeń immunologicznych, nieswoistego zapalenia jelit, zapalenia stawów i nawracających infekcji | Nieswoiste zapalenie jelit o wczesnym początku zależne od IL10 |
| cs | Autozomálně recesivní zánětlivá střevní nemoc s časným nástupem | Autozomálně recesivní IBD s časným nástupem |
| uk | Синдром імунної дисрегуляції-запальних захворювань кишечника-артриту-рецидивуючих інфекцій | IBD з раннім початком, повязаний з IL10 · Запальне захворювання кишечника з раннім початком, повязане з IL10 |
| zh | 免疫失调性-炎症性肠病-关节炎-反复感染综合征 | IL-11相关早发性炎症性肠病 |
| tr | Bağışıklık düzensizliği-inflamatuar bağırsak hastalığı-artrit-tekrarlayan enfeksiyonlar sendromu | IL10-ilişkili erken-başlangıçlı IBD · IL10-ilişkili erken-başlangıçlı inflamatuar bağırsak hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612567 | BTNT | validated | |
| OMIM | 613148 | BTNT | validated | |
| ICD-10 | K52.8 | NTBT | attributed | validated |
| ICD-11 | 4A6Y | NTBT | attributed | validated |
| MONDO | 0016542 | E | validated | |
| UMLS | C4749850 | E | validated | |
| GARD | 13016 | 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 (3):
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:619249Rare hereditary connective tissue disease
rare genetic diseases - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL10 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5962 | ENSG00000136634 | 124092 | 1q32.1 | interleukin 10 | 22549091[PMID] |
| IL10RA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5964 | ENSG00000110324 | 146933 | 11q23.3 | interleukin 10 receptor subunit alpha | 22549091[PMID] |
| IL10RB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5965 | ENSG00000243646 | 123889 | 21q22.11 | interleukin 10 receptor subunit beta | 22549091[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | 24089328[PMID] | |
| 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/238569
- This record as JSON: /data/d/238569.json