lipase deficiency, combined
Findings
No curated finding names lipase deficiency, combined yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
Definition from the Mondo Disease Ontology (MONDO:0009527), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- LipodystrophyHPOHP:0009125
- 1 of 1 reported patient
- PancreatitisHPOHP:0001733
- 1 of 1 reported patient
- Tuberous xanthomaHPOHP:0031290
- 1 of 1 reported patient
- Type II diabetes mellitusHPOHP:0005978
- 1 of 1 reported patient
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.
- LMF1HGNC:14154
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: lipase deficiency, combined
- Also called
- combined lipase deficiencyfamilial lipase maturation factor 1 deficiency