Disease Directory

Familial hemolytic anemia is a congenital condition that affects red blood cells, leading to their premature destruction. It arises from defects in th...

Familial hemophagocytic lymphohistiocytosis 2 is a severe immune dysregulation disorder that results from pathogenic variants in the PRF1 gene. This c...

Familial hemophagocytic lymphohistiocytosis 4 is an inherited immune dysregulation disorder that arises from mutations in the STX11 gene. This conditi...

Familial hemophagocytic lymphohistiocytosis 5 is a severe, genetically determined disorder classified within the spectrum of hemophagocytic lymphohist...

Familial hemophagocytic lymphohistiocytosis type 1 is a rare primary immunodeficiency that presents as a hyperinflammatory condition characterized by...

Familial hyperaldosteronism is a heritable form of primary aldosteronism that affects adrenal hormone production, leading to high blood pressure and e...

Familial hyperaldosteronism type II (FH-II) is a heritable endocrine disorder characterized by excess aldosterone production that often results in hig...

Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism that affects the endocrine system, leading to severe h...

Familial hypercholesterolemia is an inheritable form of hyperlipidemia. This means that people with this condition have higher levels of lipids, which...

Familial hyperinsulinism (FHI) is a condition characterized by excessive insulin production, leading to hypoglycemia. It is caused by inherited modifi...

Familial hyperlipidemia is a form of hyperlipidemia resulting from an inherited genomic alteration that disrupts normal lipid metabolism. Variants in...

Familial hypertrophic cardiomyopathy is a cardiac condition characterized by abnormal thickening of the heart muscle. It arises from mutations in seve...

Familial hypoaldosteronism is a rare inherited disorder resulting from aldosterone synthase deficiency, a defect that disrupts the final step of aldos...