Plasminogen deficiency is characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane disease. Ligneous conjunctivitis is the most common of the clinical syndromes associated with plasminogen deficiency, although numerous other organs have been reported to be affected. Type 2, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
Fibrinolytic defects
3B50 Inherited fibrinolytic defects
H01206 Plasminogen deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01206 Plasminogen deficiency
Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A00 Primary immunodeficiencies due to disorders of innate immunity
H01006 Hereditary angioedema
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01006 Hereditary angioedema
Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, Gonzalez-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE
Title
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
