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hypertriglyceridemia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertriglyceridemia 2

MONDO:0859149

Overview

GeneticsAutosomal dominant · CREB3L3 (chr 19)

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: Hypertriglyceridemia, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), and Hypercholesterolemia.

Organ System	Phenotype Count	Example Features
Digestive system	1	Low HDL ("good") cholesterol (decreased hdl cholesterol concentration)

Explore clinical features

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.

CREB3L3 encodes cAMP responsive element binding protein 3 like 3 (461 aa). Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. Highest expression in Liver (304.8 TPM) and Small Intestine Terminal Ileum (48.3 TPM).

Hypertriglyceridemia 2 is associated with mutations in the CREB3L3 gene on chromosome 19.

CREB3L3 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for CREB3L3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertriglyceridemia 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

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 hypertriglyceridemia 2.

204 publications have been identified in PubMed for hypertriglyceridemia 2. Kisho has analyzed 128 by research type. Research spans Review / Meta-Analysis (30%), Clinical Trial Publication (25%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Research summaries	39	30%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619324

Questions for Your Care Team

→Should I pursue genetic testing for CREB3L3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

hypertriglyceridemia 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Efficacy of plasma exchange and exchange transfusion in the clinical management of severe hypertriglyceridemia in emergency.

[Hypertriglyceridemia, Chronic Kidney Disease, and Proteinuria: A Rare Case of Apolipoprotein C-II Amyloidosis].

Genetic predisposition of Asparaginase-induced hypertriglyceridemia in children with acute lymphoblastic leukemia: Two case reports and review of literature.

Arrowhead hits ‘best-case scenario’ with latest results for fat-lowering drug

hypertriglyceridemia 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Efficacy of plasma exchange and exchange transfusion in the clinical management of severe hypertriglyceridemia in emergency.

[Hypertriglyceridemia, Chronic Kidney Disease, and Proteinuria: A Rare Case of Apolipoprotein C-II Amyloidosis].

Genetic predisposition of Asparaginase-induced hypertriglyceridemia in children with acute lymphoblastic leukemia: Two case reports and review of literature.

Arrowhead hits ‘best-case scenario’ with latest results for fat-lowering drug