transient infantile hypertriglyceridemia and hepatosteatosis
MONDO:0013771Mondo
Findings
No curated finding names transient infantile hypertriglyceridemia and hepatosteatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 10 of 10 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 10 of 10 reported patients
- Hepatic fibrosisHPOHP:0001395
- 2 of 2 reported patients
- Hepatic steatosisHPOHP:0001397
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 8 of 8 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 10 of 10 reported patients
- SplenomegalyHPOHP:0001744
- 3 of 7 reported patients
- Short statureHPOHP:0004322
- 4 of 10 reported patients
- VomitingHPOHP:0002013
- 3 of 10 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 10 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.
- GPD1HGNC:4455
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: transient infantile hypertriglyceridemia and hepatosteatosis
- Also called
- transient infantile hypertriglyceridemia and fatty liver