trichohepatoenteric syndrome 2
Findings
No curated finding names trichohepatoenteric syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.
Definition from the Mondo Disease Ontology (MONDO:0013818), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
23 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
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Chronic hepatitisHPOHP:0200123
- 1 of 1 reported patient
- ColitisHPOHP:0002583
- 4 of 4 reported patients
- Decreased circulating iron concentrationHPOHP:0040303
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 6 of 6 reported patients
- HepatomegalyHPOHP:0002240
Show the remaining 11
- Intrauterine growth retardationHPOHP:0001511
- 4 of 6 reported patients
- Villous atrophyHPOHP:0011473
- 3 of 5 reported patients
- ImmunodeficiencyHPOHP:0002721
- 3 of 6 reported patients
- Premature birthHPOHP:0001622
- 3 of 6 reported patients
- Brittle hairHPOHP:0002299
- Depressed nasal bridgeHPOHP:0005280
- Failure to thriveHPOHP:0001508
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.
- SKIC2HGNC:10898
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: trichohepatoenteric syndrome 2
- Also called
- SKIV2L tricho-hepato-enteric syndrometricho-hepato-enteric syndrome caused by mutation in SKIV2LTrichohepatoenteric syndrome type 2