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lipodystrophy, congenital generalized, type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lipodystrophy, congenital generalized, type 5

MONDO:0958023

Overview

GeneticsAutosomal recessive · PCYT1A (chr 3)

ResearchLimited published research (8 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, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), and Short stature and others; and common findings: Type II diabetes mellitus.

Organ System	Phenotype Count	Example Features
Digestive system	3	Hepatic steatosis, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Elevated circulating hepatic transaminase concentration

Genetic Landscape

PCYT1A function has not been fully characterized.

Lipodystrophy, congenital generalized, type 5 is associated with mutations in the PCYT1A gene on chromosome 3.

Diagnosis

Genetic testing for PCYT1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 1 common feature.

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 lipodystrophy, congenital generalized, type 5.

8 publications have been identified in PubMed for lipodystrophy, congenital generalized, type 5. Research spans Case Report / Case Series (38%), Other (13%), and Review / Meta-Analysis (13%).

Recent Publications

Hwang M (2026). [PMID: 41751861](https://pubmed.ncbi.nlm.nih.gov/41751861/). *International journal of molecular sciences*. [Case Report / Case Series]
Bauer R (2025). [PMID: 40832409](https://pubmed.ncbi.nlm.nih.gov/40832409/). *medRxiv : the preprint server for health sciences*. [Case Report / Case Series]
Lima JG (2025). [PMID: 41272755](https://pubmed.ncbi.nlm.nih.gov/41272755/). *Diabetology & metabolic syndrome*. [Other]
Sued Leão I (2025). [PMID: 40860570](https://pubmed.ncbi.nlm.nih.gov/40860570/). *JCEM case reports*. [Case Report / Case Series]
Foss-Freitas M (2025). [PMID: 40835790](https://pubmed.ncbi.nlm.nih.gov/40835790/). *Current diabetes reports*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620680

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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lipodystrophy, congenital generalized, type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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