Conditions / Syndrome
plasminogen deficiency type I
info · Syndrome · ICD-10: E88.02
A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous
A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.
Signs and symptoms
- Conjunctivitis
- Hydrocephalus
- Decreased circulating plasminogen concentration
- Macrocephaly
- Gingivitis
- Cerebellar hypoplasia
- Generalized hypotonia
- Periodontitis
- Blindness
- Dandy-Walker malformation
Also known as: hypoplasminogenemia