Combined immunodeficiency-multiple intestinal atresia
Synonyms: CID-MIA/early-onset IBD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency-multiple intestinal atresia | CID-MIA/early-onset IBD |
| fr | Déficit immunitaire combiné-atrésie intestinale multiple | |
| de | Kombinierter Immundefekt mit multipler intestinaler Atresie | CID-MIA/früh beginennde IBD · Immundefekt mit multiplen Darmatresien · TTC7A-Defekt |
| es | Inmunodeficiencia combinada-atresia intestinal múltiple | CID-MIA/IBD de inicio precoz |
| it | Immunodeficienza combinata-atresia intestinale multipla | CID-MIA/IBD a esordio precoce |
| nl | Gecombineerde immuundeficiëntie - multipele darmatresie | CID-MIA/vroeg beginnende IBD |
| pt | Espectro clínico de imunodeficiência combinada-enteropatia | |
| pl | Złożony niedobór odporności z wiepoziomową atrezją jelit | CID-MIA/IBD o wczesnym początku |
| cs | Spektrum zahrnující kombinovaný imunodeficit a enteropatii | CID-MIA/IBD s časným nástupem |
| uk | Комбінований імунодефіцит-спектр ентеропатії | CID-MIA / ранній початок IBD |
| zh | 联合免疫缺陷病-肠病谱 | CID-MIA/早发性 IBD |
| tr | Kombine immün yetmezlik-enteropati spektrumu | CID-MIA/erken başlangıçlı IBD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243150 | BTNT | validated | |
| OMIM | 619708 | BTNT | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0800030 | E | validated | |
| MONDO | 30831 | E | validated | |
| MONDO | 800030 | E | validated | |
| UMLS | C5680044 | 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 (4):
- ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTC7A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19750 | ENSG00000068724 | 609332 | 2p21 | tetratricopeptide repeat domain 7A | 24417819[PMID]_25174867[PMID] |
| PI4KA | Disease-causing germline mutation(s) in | Assessed | HGNC:8983 | ENSG00000241973 | 600286 | 22q11.21 | phosphatidylinositol 4-kinase alpha | 34415310[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
HPO phenotypes
30 annotations · validated 2017-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010766 | Ectopic calcification | |
| HP:0002589 | Gastrointestinal atresia | |
| HP:0011100 | Intestinal atresia | |
| HP:0004430 | Severe combined immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002223 | Absent eyebrow | |
| HP:0025085 | Bloody diarrhea | |
| HP:0002721 | Immunodeficiency | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0005229 | Jejunoileal ulceration | |
| HP:0001561 | Polyhydramnios | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0100889 | Abnormality of the ductus choledochus | |
| HP:0002293 | Alopecia of scalp | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0002566 | Intestinal malrotation | |
| HP:0100592 | Peritoneal abscess | |
| HP:0005224 | Rectal abscess | |
| HP:0002722 | Recurrent abscess formation | |
| HP:0001072 | Thickened skin | |
| Very rare (<4-1%) | ||
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0002960 | Autoimmunity | |
| HP:0010959 | Congenital pulmonary airway malformation | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0012115 | Hepatitis | |
| HP:0008404 | Nail dystrophy | |
| HP:0001539 | Omphalocele | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 23423984[PMID]_2240032[PMID]_15137007[PMID]_5091250[PMID]_4752999[PMID]_4470900[PMID]_1250662[PMID]_2240032[PMID]_514679[PMID]_6637476[PMID]_7554349[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436252
- This record as JSON: /data/d/436252.json