gastrointestinal defects and immunodeficiency syndrome 1
Findings
No curated finding names gastrointestinal defects and immunodeficiency syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0800030), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bloody diarrheaHPOHP:0025085
- 1 of 1 reported patient
- Enamel hypoplasiaHPOHP:0006297
- 1 of 1 reported patient
- EnterocolitisHPOHP:0004387
- 5 of 5 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Ileal atresiaHPOHP:0011102
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTC7AHGNC:19750
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: gastrointestinal defects and immunodeficiency syndrome 1
- Also called
- familial intestinal polyatresia syndromeFIPAMINATmultiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency