Pipecolic acidemia also called hyperpipecolic acidemia or hyperpipecolatemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic acidemia can also be an associated […]
List of articles in "Disease" category - Page 242
Epidermodysplasia verruciformis
Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia) is an extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by […]
Loxoscelism
Loxoscelism is a condition occasionally produced by the bite of the recluse spiders (genus Loxosceles). The area becomes dusky and becomes a deep open sore as the skin around the […]
Currarino syndrome
The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly (2) there […]
Nephrocalcinosis
Nephrocalcinosis once known as Albright’s calcinosis after Fuller Albright or Anderson-Carr Kidneys is a term originally used to describe deposition of calcium salts in the renal parenchyma due to hyperparathyroidism. […]
Fitzsimmons–Guilbert syndrome
Fitzsimmons–Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia skeletal anomalies of the hands and feet with brachydactyly type E cone-shaped epiphyses abnormal metaphyseal–phalangeal […]
May–Hegglin anomaly
May–Hegglin anomaly (MHA) also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions is a rare genetic disorder of the blood platelets that causes them to […]
Rabson–Mendenhall syndrome
Rabson–Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin resistance. The disorder is caused by mutations in the insulin receptor gene. Symptoms include growth abnormalities of the […]
Euthyroid sick syndrome
Euthyroid sick syndrome (ESS) sick euthyroid syndrome (SES) non-thyroidal illness syndrome (NTIS) or low T3 low T4 syndrome is a state of adaptation or dysregulation of thyrotropic feedback control where […]
Normal anion gap acidosis
In renal physiology normal anion gap acidosis and less precisely non-anion gap acidosis is an acidosis that is not accompanied by an abnormally increased anion gap. The most common etiology […]