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transient infantile hypertriglyceridemia and hepatosteatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

transient infantile hypertriglyceridemia and hepatosteatosis

MONDO:0013771

Also known as:transient infantile hypertriglyceridemia and fatty liverHTGTIhypertriglyceridemia, transient infantile

Overview

GeneticsAutosomal recessive · GPD1 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hepatic steatosis, Hypertriglyceridemia, Liver scarring (fibrosis) (hepatic fibrosis), and Enlarged liver (hepatomegaly) and others; and common findings: Short stature, Vomiting, and Enlarged spleen (splenomegaly). 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	6	Hepatic steatosis, Vomiting, Liver scarring (fibrosis) (hepatic fibrosis)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GPD1 encodes glycerol-3-phosphate dehydrogenase 1 (349 aa). Has glycerol-3-phosphate dehydrogenase activity Highest expression in Adipose Subcutaneous (569.0 TPM) and Adipose Visceral Omentum (389.0 TPM).

Transient infantile hypertriglyceridemia and hepatosteatosis is associated with mutations in the GPD1 gene on chromosome 12.

The GPD1 protein participates in DHAP is converted to G3P by GPD1/GPD1L, Gly-3-P+FAD-DHAP+FADH2 (catalyzed by mitochondrial Gly-Phos dehydrogenase), and PPARA activates gene expression pathways.

GPD1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for GPD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for transient infantile hypertriglyceridemia and hepatosteatosis.

2 publications have been identified in PubMed for transient infantile hypertriglyceridemia and hepatosteatosis. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Malik I (2026). [PMID: 41839820](https://pubmed.ncbi.nlm.nih.gov/41839820/). *Am J Med Genet A*. [Review / Meta-Analysis]
Türk NE (2025). [PMID: 40216993](https://pubmed.ncbi.nlm.nih.gov/40216993/). *J Hum Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614480

Orphanet

European rare disease database

Orphanet:300293

GARD

Genetic and Rare Diseases Info Center

GARD:17363

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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transient infantile hypertriglyceridemia and hepatosteatosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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