Hyperimmunoglobulinemia D with recurrent fever (commonly abbreviated as HIDS) is a periodic fever syndrome originally described in 1984 by the internist Prof. Jos van der Meer, then at Leiden University Medical Centre. No more than 300 cases have been described worldwide.
An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin.
A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF1 is due to a mutation in the gene for SUR1 (surfonlyurea receptor 1) on chromosome 11p15.1.
Hyperkalemic periodic paralysis (HYPP), also known as Impressive Syndrome, is an inherited autosomal dominant disorder which affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. It is most commonly associated with horses, but also occurs in humans, where it is also called Gamstorp episodic adynamy.
Flegel originally described hyperkeratosis lenticularis perstans (HLP) in 1958 as red-brown papules with horny scales of irregular outline measuring 1-5 mm in diameter and up to 1 mm in depth. Lesions are located primarily on the dorsal feet and lower legs, with a decreasing likelihood of manifestation proximally. Most cases have been reported in Europe.
A rare skin disorder characterized by thickening of the skin on the palms and soles as well as degeneration of some layers of the skin tissue.
A rare skin disorder characterized by thickening of the skin on the palms and soles as well as degeneration of some layers of the skin tissue.
A condition characterized by thickening of the skin on the palms of the hands and soles of the feet. The condition is associated with a risk of developing esophageal cancer which increases with age.
Hyperlipoproteinemia type 1 is a genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).
A rare inherited blood disorder characterized by high levels of betalipoproteins and cholesterol.
A rare genetic disorder characterized by the body's impaired ability to break down certain lipids (triglycerides) which results in their buildup in the blood.
An inherited disorder where the body's ability to break down lipids (triglycerides and cholesterol) is impaired resulting in increased blood lipid levels of chylomicrons and VLDL's
Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It can be associated with saccharopine dehydrogenase.
Elevated levels of ornithine in the serum; sometimes associated with hyperammonemia and homocitrullinuria.
A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
A rare inflammatory disorder that affects bones and soft tissue in infants. The condition may affect virtually any bone and causes excessive enlargement of part of the bone (cortex). Infant feeding problems may occur if the jaw bone is affected which can affect weight gain. The inflammatory course of the disease eventually stops and over time the bones remodel to a normal appearance
A rare genetic disorder characterized by increased thickening of the bones in the skull, jaw, collar bone, ribs and the main shaft of long bones. The thickening of the bones may compress some nerves resulting in vision and hearing impairment.
A rare disorder characterized by the development of painful, recurring swellings on the long bones. The swellings are transient.
Hyperoxaluria (called Bird's disease, after Golding Bird, who first described the condition), is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones.
Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive secretion of parathyroid hormone (PTH), usually by an adenoma (benign tumors) of the parathyroid glands. Its incidence is approximately 42 per 100,000 people. It is almost exactly three times as common in women as men.
A very rare disorder where high levels of parathyroid levels affects the body's use of calcium. The bones lack sufficiency calcification and become weak.
A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways.
A rare metabolic disorder where the deficiency of an enzyme (pterin-4-alpha-carbinolamine dehydratase) can caused high blood phenylalanine levels. The condition is generally harmless and the disorder is usually only discovered accidentally in routine blood tests.
A genetic condition where phenylalanine (component of protein) is unable to be broken down due to an enzyme (phenylalanine hydroxylase) deficiency which leads to a harmful build up of the compound. The condition is characterized by neurological symptoms as well as the presence of increased levels of phenylalanine in the blood.
A rare metabolic disorder where the deficiency of an enzyme (pterin-4-alpha-carbinolamine dehydratase) can caused high blood phenylalanine levels. The condition is generally harmless and the disorder is usually only discovered accidentally in routine blood tests.
A rare metabolic disorder caused by an enzyme deficiency (GTP cyclohydrolase) which causes a harmful build up of phenylalanine in the blood.
A rare disorder characterized by high blood phenylalanine levels and excretion of primapterine in the urine due to an enzyme deficiency (pterin-4-alpha-carbinolamine dehydratase). The condition usually produces no clinical symptoms.
A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.