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hypoplasminogenemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypoplasminogenemia

MONDO:0009009

Also known as:plasminogen deficiency type 1plasminogen deficiency, type 1plasminogen deficiency, type I

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Overview

A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.

GeneticsAutosomal recessive · PLG (chr 6)

Clinical Trials2 registered

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: Conjunctivitis, Hydrocephalus, Decreased level of plasminogen, and Macrocephaly; and common findings: Cerebellar hypoplasia, Generalized hypotonia, Dandy-Walker malformation, and Enlarged brain ventricles (ventriculomegaly) and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Nephritis, Nephrolithiasis

Genetic Landscape

PLG function has not been fully characterized.

Hypoplasminogenemia is caused by mutations in the PLG gene on chromosome 6.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 5 common features.

Estimated prevalence: 1-9 in 1,000,000 (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.

2 clinical trials registered. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE3. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for hypoplasminogenemia. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	7

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 2:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:217090

Orphanet

European rare disease database

Orphanet:722 Orphanet:97231

GARD

Genetic and Rare Diseases Info Center

GARD:4380

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→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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hypoplasminogenemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hypoplasminogenemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications