Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis.
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
H00222 Congenital fibrinogen deficiency
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H00222 Congenital fibrinogen deficiency
nt06548 Integrin signaling
H00222 Congenital fibrinogen deficiency
Immune system
nt06514 Coagulation cascade
H00222 Congenital fibrinogen deficiency
Hereditary systemic amyloidosis (AMYLD) Amyloidosis, Finnish type [DS:H02322]
Description
The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration that renders them avid for Congo red dye. In the familial amyloidoses, a gene mutation inherited in an autosomal-dominant manner results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on the underlying amyloidogenic protein and the particular amino acid affected by the mutation, ranging from peripheral and autonomic neuropathy to cardiomyopathy.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Other metabolic disorders
5D00 Amyloidosis
H00845 Familial amyloidosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H00845 Familial amyloidosis
nt06548 Integrin signaling
H00845 Familial amyloidosis
Immune system
nt06514 Coagulation cascade
H00845 Familial amyloidosis
