trichohepatoenteric syndrome
Findings
No curated finding names trichohepatoenteric syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Definition from the Mondo Disease Ontology (MONDO:0009105), read 2026-09-29. CC BY 4.0.
Features
52 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Intractable diarrheaHPOHP:0002041
- Very frequent (80% to 99% of cases)
- Woolly hairHPOHP:0002224
- Very frequent (80% to 99% of cases)
- Abnormal skin morphologyHPOHP:0011121
- Frequent (30% to 79% of cases)
- Abnormality of the liverHPOHP:0001392
- Frequent (30% to 79% of cases)
- Brittle hairHPOHP:0002299
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- CirrhosisHPOHP:0001394
- Frequent (30% to 79% of cases)
- Dependency on intravenous nutritionHPOHP:0025156
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hepatic fibrosisHPOHP:0001395
- Frequent (30% to 79% of cases)
Show the remaining 40
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- PanhypogammaglobulinemiaHPOHP:0003139
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
Other names
8 names
Resolves to: trichohepatoenteric syndrome
- Also called
- phenotypic diarrheaphenotypic diarrhoeaSD/THEsyndromic diarrheasyndromic diarrhea/Tricho-hepato-enteric syndromesyndromic diarrhoeaTricho-hepato-enteric syndromeTrichohepatoenteric syndrome type 1