Infantile inflammatory bowel disease with neurological involvement
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile inflammatory bowel disease with neurological involvement | |
| fr | Maladie inflammatoire infantile de l'intestin avec atteinte neurologique | |
| de | Infantile chronisch-entzündliche Darmerkrankung mit neurologischer Beteiligung | |
| es | Enfermedad inflamatoria intestinal del lactante con afectación neurológica | |
| it | Malattia infiammatoria intestinale infantile con coinvolgimento neurologico | |
| nl | Infantiele inflammatoire darmziekte met neurologische betrokkenheid | |
| pt | Doença inflamatória do intestino da infância com envolvimento neurológico | |
| pl | Niemowlęce zapalenie jelita z objawami neurologicznymi | |
| cs | Zánětlivé onemocnění střev s neurologickým postižením v dětském věku | |
| uk | Дитяча запальна хвороба кишечника з неврологічними проявами | |
| zh | 神经系统受累的婴儿炎症性肠病 | |
| tr | Nörolojik tutulum ile seyreden infantil inflamatuar bağırsak hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618213 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | DD7Y | NTBT | attributed | validated |
| MONDO | 0032601 | E | validated | |
| UMLS | C5568565 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGFB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11766 | ENSG00000105329 | 190180 | 19q13.2 | transforming growth factor beta 1 | 29483653[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 29483653[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29483653[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/565788
- This record as JSON: /data/d/565788.json