inflammatory bowel disease, immunodeficiency, and encephalopathy
MONDO:0032601Mondo
Findings
No curated finding names inflammatory bowel disease, immunodeficiency, and encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
26 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
- 3 of 3 reported patients · Infantile onset
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 2 of 3 reported patients
- Anoperineal fistulaHPOHP:0005218
- 1 of 3 reported patients
- Candida esophagitisHPOHP:0033351
- 1 of 3 reported patients
- Eosinophilic infiltration of the esophagusHPOHP:0410151
- 1 of 3 reported patients
- Hypochromic anemiaHPOHP:0001931
- 1 of 3 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 1 of 3 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 1 of 3 reported patients
- Increased total leukocyte countHPOHP:0001974
- 1 of 3 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 3 reported patients
Show the remaining 14
- PancolitisHPOHP:0033256
- 1 of 3 reported patients
- Perianal abscessHPOHP:0009789
- 1 of 3 reported patients · Infantile onset
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 3 reported patients
- Severe varicella zoster infectionHPOHP:0032170
- 1 of 3 reported patients
- SpasticityHPOHP:0001257
- 1 of 3 reported patients
- ThrombocytosisHPOHP:0001894
- 1 of 3 reported patients
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.
- TGFB1HGNC:11766
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of