Information on GIDID1
Basic details
Name: Gastrointestinal defects and immunodeficiency syndrome | Acronym: GIDID1
Alt. names: gastrointestinal defect and immunodeficiency syndrome
Gene: TTC7A | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-05-17 17:33:05 by
Description
Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014).[OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Intestinal atresia |
20 (74.1%) | 0 (0.0%) | 7 (25.9%) |
| 2 | Jejunal atresia |
15 (93.8%) | 0 (0.0%) | 1 (6.3%) |
| 3 | Colonic atresia |
13 (86.7%) | 0 (0.0%) | 2 (13.3%) |
| 4 | Duodenal atresia |
9 (56.3%) | 0 (0.0%) | 7 (43.8%) |
| 5 | Rectal atresia |
9 (69.2%) | 0 (0.0%) | 4 (30.8%) |
| 6 | T-cell lymphoma |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Hypogammaglobulinemia |
7 (50.0%) | 0 (0.0%) | 7 (50.0%) |
| 8 | Congenital onset |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Enterocolitis |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Intrauterine growth retardation |
5 (31.3%) | 0 (0.0%) | 11 (68.8%) |
| 11 | Impaired lymphocyte transformation with phytohemagglutinin |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 12 | Death in infancy |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 13 | Rectal bleeding |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 14 | Intestinal malrotation |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 15 | Intestinal obstruction |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Lymphopenia |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 17 | Agammaglobulinemia |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 18 | Omphalocele |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
| 19 | Bloody diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Congenital cystic adenomatoid malformation of the lung |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 21 | Death in childhood |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 22 | Enamel hypoplasia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Hypertelorism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Ileal atresia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Interface hepatitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 26 | Leukocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 27 | Polyhydramnios |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 28 | Prominent forehead |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 29 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 30 | Thrombocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 31 | Ventricular septal defect |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.