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gastrointestinal defects and immunodeficiency syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gastrointestinal defects and immunodeficiency syndrome 1

MONDO:0800030

Also known as:intestinal atresia, multipleFIPAMINAT

Overview

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.

GeneticsAutosomal recessive · TTC7A (chr 2)

OnsetANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intestinal obstruction, Elevated platelet count (thrombocytosis), Enterocolitis, and Bloody diarrhea and others; and very common findings: Jejunal atresia and Colonic atresia. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	7	Autoimmunity, Elevated platelet count (thrombocytosis), Autoimmune hemolytic anemia

Genetic Landscape

TTC7A function has not been fully characterized.

Gastrointestinal defects and immunodeficiency syndrome 1 is associated with mutations in the TTC7A gene on chromosome 2.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TTC7A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for gastrointestinal defects and immunodeficiency syndrome 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features, 2 very common features, 9 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for gastrointestinal defects and immunodeficiency syndrome 1.

104 publications have been identified in PubMed for gastrointestinal defects and immunodeficiency syndrome 1. Kisho has analyzed 60 by research type. Research spans Review / Meta-Analysis (78%), Other (10%), and Basic Science / Preclinical (7%).

Research Type	Count	% of Total
Research summaries	47	78%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:243150

GARD

Genetic and Rare Diseases Info Center

GARD:17731

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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gastrointestinal defects and immunodeficiency syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

gastrointestinal defects and immunodeficiency syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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