trichohepatoenteric syndrome 1
Findings
No curated finding names trichohepatoenteric syndrome 1 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 TTC37 gene.
Definition from the Mondo Disease Ontology (MONDO:0024541), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Broad foreheadHPOHP:0000337
- 12 of 12 reported patients
- GalactosuriaHPOHP:0012023
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 32 of 32 reported patients
- Intractable diarrheaHPOHP:0002041
- 12 of 12 reported patients
- Prominent foreheadHPOHP:0011220
- 20 of 20 reported patients
- Trichorrhexis nodosaHPOHP:0009886
- 22 of 22 reported patients
- Villous atrophyHPOHP:0011473
Show the remaining 12
- ThrombocytosisHPOHP:0001894
- 4 of 11 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 9 reported patients
- Aortic regurgitationHPOHP:0001659
- 2 of 12 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 2 of 12 reported patients
- HypospadiasHPOHP:0000047
- 3 of 20 reported patients
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- 1 of 12 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.
- SKIC3HGNC:23639
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: trichohepatoenteric syndrome 1
- Also called
- tricho-hepato-enteric syndrome caused by mutation in TTC37TTC37 tricho-hepato-enteric syndrome