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lipase deficiency, combined - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lipase deficiency, combined

MONDO:0009527

Also known as:combined lipase deficiencyfamilial lipase maturation factor 1 deficiencyLPL and HL deficiency

Overview

A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.

GeneticsAutosomal recessive · LMF1 (chr 16)

ResearchLimited published research (7 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: Tuberous xanthoma, Hypertriglyceridemia, Lipodystrophy, and Type II diabetes mellitus and others.

Organ System	Phenotype Count	Example Features
Hormones	1	Type II diabetes mellitus
Digestive system

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.

LMF1 encodes lipase maturation factor 1 (567 aa). Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Highest expression in Thyroid (20.2 TPM) and Prostate (16.0 TPM).

Lipase deficiency, combined is associated with mutations in the LMF1 gene on chromosome 16.

LMF1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LMF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present 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 lipase deficiency, combined.

7 publications have been identified in PubMed for lipase deficiency, combined. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Basic Science / Preclinical (14%).

Recent Publications

Vallejo S (2026). [PMID: 41633911](https://pubmed.ncbi.nlm.nih.gov/41633911/). *Journal of clinical lipidology*. [Case Report / Case Series]
Larouche M (2026). [PMID: 40663639](https://pubmed.ncbi.nlm.nih.gov/40663639/). *The Journal of clinical endocrinology and metabolism*. [Epidemiology / Natural History]
Reda A (2026). [PMID: 41557222](https://pubmed.ncbi.nlm.nih.gov/41557222/). *The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology*. [Review / Meta-Analysis]
Drögemüller M (2025). [PMID: 40764662](https://pubmed.ncbi.nlm.nih.gov/40764662/). *Scientific reports*. [Basic Science / Preclinical]
Montalvo AF (2025). [PMID: 40142634](https://pubmed.ncbi.nlm.nih.gov/40142634/). *Journal of clinical medicine*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:246650

Orphanet

European rare disease database

Orphanet:535453

GARD

Genetic and Rare Diseases Info Center

GARD:10244

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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lipase deficiency, combined

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

Questions for Your Care Team

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