Prothrombin thrombophilia is the second most common inherited thrombophilia. This presents mostly in adults as deep vein thrombosis that progress to pulmonary embolism.
Factor V Leiden is the most common inherited thrombophilia. It usually presents as deep vein thrombosis or pulmonary embolism. It is characterized by poor anticoagulant response to Activated Protein C.
Hereditary Hemochromatosis is a disorder of iron metabolism wherein the body accumulates excess iron. High iron absorption by the gastrointestinal mucosa is evident in HFE-associated hereditary hemochromatosis (HFE-HH)
Holt-Oram syndrome, one of the most common heart-hand syndromes, is characterized by malformations of the upper limbs and variable cardiac defects.
Fabry disease is a lysomal storage disorder resulting from deficient or absent activity of the lysosomal enzyme, α- galactosidase A, and the resultant accumulation of glycosphingolipids, mainly in the endothelium.
The CHARGE acronym refers to this syndrome’s characteristic phenotype: coloboma, heart anomaly, atresia of choanae, retardation of physical and mental development, genital hypoplasia and ear anomalies and/or deafness
Transthyretin amyloidosis, the most common form of familial amyloidosis, is a systemic disorder characterized by the extracellular deposition of amyloid fibrils causing organ dysfunction and failure.