ORPHA:717757
Rare immune disease with inflammatory bowel disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare immune disease with inflammatory bowel disease | |
| fr | Maladie immunologique rare associée à une maladie inflammatoire de l'intestin | |
| de | Seltene Immunkrankheit mit entzündlicher Darmerkrankung | |
| es | Enfermedad inmunológica rara con enfermedad inflamatoria intestinal | |
| it | Malattia immunitaria rara con malattia infiammatoria dell'intestino | |
| nl | Zeldzame immuunziekte met inflammatoire darmziekte | |
| pt | Rare immune disease with inflammatory bowel disease | |
| pl | Rare immune disease with inflammatory bowel disease | |
| cs | Rare immune disease with inflammatory bowel disease |
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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:717862Rare disorder with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
Children (52):
- ORPHA:397596Activated PI3K-delta syndrome
- ORPHA:231154Atypical/leaky severe combined immunodeficiency due to partial RAG defect
- ORPHA:436159Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- ORPHA:275517Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
- ORPHA:329173Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- ORPHA:619972CADINS disease
- ORPHA:379Chronic granulomatous disease
- ORPHA:357237Combined immunodeficiency due to CARD11 deficiency
- ORPHA:169082Combined immunodeficiency due to CD3gamma deficiency
- ORPHA:447737Combined immunodeficiency due to DOCK2 deficiency
- ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency
- ORPHA:397964Combined immunodeficiency due to MALT1 deficiency
- ORPHA:317430Combined immunodeficiency due to STIM1 deficiency
- ORPHA:911Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:157949Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect
- ORPHA:436252Combined immunodeficiency-multiple intestinal atresia
- ORPHA:317473Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
- ORPHA:696904Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
- ORPHA:566175Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
- ORPHA:369861Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- ORPHA:714493Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
- ORPHA:542301EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
- ORPHA:664711EBV-induced lymphoproliferative disease due to PRKCD deficiency
- ORPHA:714477Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome
- ORPHA:540Familial hemophagocytic lymphohistiocytosis
- ORPHA:79430Hermansky-Pudlak syndrome
- ORPHA:101089Hyper-IgM syndrome type 2
- ORPHA:98813Hypohidrotic ectodermal dysplasia with immunodeficiency
- ORPHA:69088Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- ORPHA:2268ICF syndrome
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
- ORPHA:169100Immunodeficiency due to CD25 deficiency
- ORPHA:331187Immunodeficiency due to MASP-2 deficiency
- ORPHA:714496Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome
- ORPHA:695807Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
- ORPHA:714423Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
- ORPHA:714472Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
- ORPHA:695183Late-onset combined immunodeficiency due to ICOS deficiency
- ORPHA:99842Leukocyte adhesion deficiency type I
- ORPHA:294023Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- ORPHA:229717Non-syndromic agammaglobulinemia
- ORPHA:39041Omenn syndrome
- ORPHA:596759RELA haploinsufficiency-associated inflammatory disease
- ORPHA:391487STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:438159STAT3-related early-onset multisystem autoimmune disease
- ORPHA:331176Severe congenital neutropenia due to G6PC3 deficiency
- ORPHA:445018Syndromic autoimmune enteropathy due to LRBA deficiency
- ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:906Wiskott-Aldrich syndrome
- ORPHA:101088X-linked hyper-IgM syndrome
- ORPHA:538931X-linked lymphoproliferative disease due to SAP deficiency
- ORPHA:538934X-linked lymphoproliferative disease due to XIAP deficiency
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/717757
- This record as JSON: /data/d/717757.json