Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females.
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
Coagulation defects
Congenital or constitutional haemorrhagic condition
3B14 Other inherited coagulation factor deficiency with bleeding tendency
H00945 Factor XIII deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H00945 Factor XIII deficiency
Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A
Title
Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood flow to the heart and injuring heart muscles because of lack of oxygen supply. The symptoms of MI include chest pain, which travels from left arm to neck, shortness of breath, nausea, epigastric discomfort, syncope, diaphoresis, and other factors. The diagnosis of MI is dependent on the sensitivity and specificity of the clinical criteria, electrocardiographic (ECG) findings, imaging studies and biomarkers used to detect death of cardiomyocytes. The treatment of MI includes, aspirin tablets, and to dissolve arterial blockage injection of thrombolytic or clot dissolving drugs such as tissue plasminogen activator, streptokinase or urokinase in blood within 3 h of the onset of a heart attack. Nitroglycerin and antihypertensive drugs such as beta-blockers and ACE inhibitors may also be used to lower blood pressure and to improve the oxygen demand of heart.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Ischaemic heart diseases
Acute ischaemic heart disease
BA41 Acute myocardial infarction
H01730 Myocardial infarction
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01730 Myocardial infarction
Wang X, Ria M, Kelmenson PM, Eriksson P, Higgins DC, Samnegard A, Petros C, Rollins J, Bennet AM, Wiman B, de Faire U, Wennberg C, Olsson PG, Ishii N, Sugamura K, Hamsten A, Forsman-Semb K, Lagercrantz J, Paigen B
Title
Positional identification of TNFSF4, encoding OX40 ligand, as a gene that influences atherosclerosis susceptibility.
