hypoplasminogenemia
Findings
No curated finding names hypoplasminogenemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.
Definition from the Mondo Disease Ontology (MONDO:0009009), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
22 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.
- ConjunctivitisHPOHP:0000509
- 2 of 2 reported patients
- Decreased circulating plasminogen concentrationHPOHP:0040228
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Abnormal fallopian tube morphologyHPOHP:0011027
- Occasional (5% to 29% of cases)
- Abnormality of the middle earHPOHP:0000370
- Occasional (5% to 29% of cases)
- Abnormality of the ovaryHPOHP:0000137
- Occasional (5% to 29% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Occasional (5% to 29% of cases)
- Abnormality of the skinHPOHP:0000951
- Occasional (5% to 29% of cases)
- CervicitisHPOHP:0030160
- Occasional (5% to 29% of cases)
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.
- PLGHGNC:9071
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: hypoplasminogenemia
- Also called
- plasminogen deficiency type 1plasminogen deficiency, type 1plasminogen deficiency, type Itype 1 plasminogen deficiency