ORPHA:695807
Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
Synonyms: Immunodeficiency-multi-organ inflammation-lymphoma predisposition syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- 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 | Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome | Immunodeficiency-multi-organ inflammation-lymphoma predisposition syndrome |
| fr | Syndrome d'immunodéficience-inflammation systémique-prédisposition au lymphome | Syndrome d'immunodéficience-inflammation multi-organique-prédisposition au lymphome |
| de | Syndromaler Immundefekt mit systemischer Inflammation und Lymphom-Prädisposition | SYK-assoziierte Immunregulationsstörung mit systemischer Inflammation |
| es | Síndrome de predisposición a inmunodeficiencia-inflamación sistémica-linfoma | Síndrome de predisposición a inmunodeficiencia-inflamación multiorgánica-linfoma |
| it | Sindrome immunodeficienza-infiammazione sistemica- predisposizione al linfoma | Sindrome immunodeficienza-infiammazione multiorgano-predisposizione al linfoma |
| nl | Immuundeficiëntie - systemische inflammatie - lymfoom-predispositiesyndroom | Immuundeficiëntie - multiorgaan-inflammatie - lymfoom-predispositiesyndroom |
| pt | Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome | |
| pl | Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome | = en |
| cs | Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619381 | 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 (4):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SYK | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11491 | ENSG00000165025 | 600085 | 9q22.2 | spleen associated tyrosine kinase | 33782605[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 33782605[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33782605[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/695807
- This record as JSON: /data/d/695807.json