Disease Directory

Hyperekplexia 2 is a hereditary neurological condition caused by mutations in the GLRB gene. It is characterized by an exaggerated startle response an...

Hyperekplexia 3 is a hereditary neurological condition characterized primarily by an exaggerated startle response, which is always present. It is caus...

Hyperekplexia 4 is a severe neurologic disorder that becomes apparent at birth, with affected infants displaying extreme rigidity and a lack of sponta...

Hypereosinophilia of undetermined significance is a condition characterized by a prolonged elevation of eosinophil counts in the blood without an iden...

Hypereosinophilic syndrome (HES) is a group of disorders characterized by persistently high levels of eosinophils in the blood and tissues, which can...

Hyperglobulinemic purpura is a condition characterized by a purplish or brownish red discoloration of the skin, most often observed on the legs. It is...

Hyperhomocysteinemia is a serious metabolic condition characterized by elevated levels of homocysteine in the blood, which increases the risk of blood...

Hyperimmunoglobulin syndrome is a condition that appears to involve abnormalities in the immune system. Although detailed information is not available...

Hyperimmunoglobulinemia D with periodic fever (HIDS) is an autoinflammatory condition characterized by recurrent episodes of fever and systemic inflam...

Hyperinsulinemic hypoglycemia is an inherited condition primarily affecting the pancreas that leads to persistent low blood sugar levels in infancy. T...

Hyperinsulinemic hypoglycemia with polycystic kidney disease is a condition characterized by episodes of low blood sugar due to excessive insulin secr...

Hyperinsulinemic hypoglycemia, familial, 1 is a condition characterized by excessive insulin secretion that leads to persistently low blood sugar leve...

Hyperinsulinemic hypoglycemia, familial, 2 is a condition characterized by excessively low blood sugar levels due to unregulated insulin secretion. It...

Hyperinsulinemic hypoglycemia, familial, 4 is a metabolic condition characterized by inappropriate insulin secretion that leads to episodes of low blo...

Hyperinsulinemic hypoglycemia, familial, 8 is a condition that affects multiple systems including metabolic, endocrine, and neurological function, lea...

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism that presents with marked hyperinsulinemic hypoglycem...

Hyperinsulinism due to INSR deficiency is a very rare endocrine disorder that affects the regulation of blood sugar levels. It is caused by mutations...