Diseases

Hyperphosphatemia

In hyperphosphatemia, the patient has a too high concentration of phosphorus in the blood. This can be caused by either too efficient uptake of phosphorus through the intestine, or too inefficient excretion of the mineral by the kidneys.

A too high phosphorus concentration in the blood leads to calcium-phosphate salt deposits in soft tissues and blood vessels, causing harm to all organs. It also leads to a depletion of calcium in the body (hypocalcemia), leading to weakened bones and corresponding symptoms.

Hyperphosphatemia is treated by reducing phosphate or binding surplus phosphate in the blood by medication.

Hyperpipecolatemia

A rare metabolic disorder characterized by high blood levels of pipecolic acid.

Hyperprolactinemia

Hyperprolactinemia is a condition of elevated serum prolactin. Prolactin is a 198 amino acid protein (23-kD) produced in the lactotroph cells of the anterior pituitary gland. Its primary function is to enhance breast development during pregnancy and to induce lactation. However, prolactin also binds to specific receptors in the gonads, lymphoid cells, and liver. Secretion is pulsatile; it increases with sleep, stress, pregnancy, and chest wall stimulation or trauma, and therefore must be drawn after fasting. Normal fasting values are generally less than 30 ng/mL, depending on the individual laboratory

Hyperprolinemia

A very rare inherited metabolic disorder involving high levels of proline in the blood and urine due to a deficiency of the enzyme proline oxidase. There are two subtypes of the disorder with type II being more severe (higher blood levels of praline). Type I is generally asymptomatic wheras type II tends to involve neurological symptoms.

Hyperprolinemia type 2

A very rare inherited metabolic disorder involving high levels of proline in the urine due to a deficiency of the enzyme delta-pyrrolidine 5-carboxylate acid dehydrogenase. Blood proline levels are higher than for hyperprolinemia type I.

Hypersensitivity vasculitis

Heterogeneous group of disorders characterized by a vasculitic syndrome presumed to be associated with a hypersensitivity reaction following exposure to an antigen such as an infectious agent, a drug, or other foreign or endogenous substance

Hypersomnolence- idiopathic

Extreme sleepiness that occurs for no apparent reason. The sleepiness persists even after having a sleep and can severely affect a person's ability to function. Sufferers tend to sleep at night and still require sleep during the day.

Hypertensive hypokalemia familial

A rare inherited form of high blood pressure. The high blood pressure is due to a kidney tubule abnormality results in too much sodium being reabsorbed into the blood stream instead of being excreted

Hyperthermia induced defects

A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.

Hyperthyroidism due to mutations in TSH receptor

A very rare disorder where the body is unable to respond to thyroid stimulating hormone even though it is present in sufficient quantities. The problem lies in defective thyroid stimulating hormone receptors.

Hypertrichosis lanuginosa- acquired

Hypertrichosis lanuginosa acquisita is a very rare condition characterised by the rapid growth of long, fine, lanugo-type (i.e.: fetal) hair particularly around the eyebrows, forehead, ears and nose. It is similar to congenital hypertrichosis lanuginosa (see hypertrichosis) except that it appears later on in adulthood and in most cases associated with an underlying cancer.

Hypertrophic neuropathy of Dejerine-Sottas

An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function

Hypertrophic osteoarthropathy- primary or idiopathic

Hypertrophic osteoarthropathy: two types, primary type is a condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, seborrhea, hyperhidrosis, periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet, it is more prevalent in the male; secondary type is a condition with symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement, and is often secondary to chronic conditions of the lungs and heart.

Hypocalciuric hypercalcemia- familial- type 1

Familial hypocalciuric hypercalcemia (FHH) is a benign, inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). Treatment is typically considered unnecessary because it is a benign condition. FHH can be difficult to distinguish from primary hyperparathyroidism, for which parathyroidectomy is typically performed; individuals with FHH are typically advised to avoid parathyroidectomy.

In the medical literature, some authors reference different types of familial hypocalciuric hypercalcemia (FHH) - types 1, 2 and 3. These subtypes of FHH are generally used to describe forms of the condition that are genetically distinct (i.e. are caused by mutations in different genes). In more than 65% of families affected by FHH, the condition is due to mutations in the CASR gene, which is located on chromosome 3. In the other families affected by FHH, the exact genetic abnormality that causes the condition has not yet been identified. Researchers have discovered that one of two other genes, located at different parts of chromosome 19, may be responsible for the condition in some of these remaining individuals. These three genetically distinct types of FHH have therefore been designated as FHH type 1 (due to a mutation in the CASR gene at chromosome 3q21.1) and FHH types 2 and 3 (due to genetic abnormalities at chromosome locations 19p and 19q13, respectively).

Hypocalciuric hypercalcemia- familial- type 2

A rare genetic disorder known as familial hypocalciuric hypercalcemia causes an increase of calcium in your blood because of faulty calcium receptors in your body. Treatment is typically considered unnecessary because it is a benign condition. FHH can be difficult to distinguishfrom primary hyperparathyroidism, for which parathyroidectomy is typically performed; individuals with FHH are typically advised to avoid parathyroidectomy.

In the medical literature, some authors reference different types of familial hypocalciuric hypercalcemia (FHH) - types 1, 2 and 3. These subtypes of FHH are generally used to describe forms of the condition that are genetically distinct (i.e. are caused by mutations in different genes). In more than 65% of families affected by FHH, the condition is due to mutations in the CASR gene, which is located on chromosome 3. In the other families affected by FHH, the exact genetic abnormality that causes the condition has not yet been identified. Researchers have discovered that one of two other genes, located at different parts of chromosome 19, may be responsible for the condition in some of these remaining individuals. These three genetically distinct types of FHH have therefore been designated as FHH type 1 (due to a mutation in the CASR gene at chromosome 3q21.1) and FHH types 2 and 3 (due to genetic abnormalities at chromosome locations 19p and 19q13, respectively).

Hypocalciuric hypercalcemia- familial- type 3

A rare genetic disorder known as familial hypocalciuric hypercalcemia causes an increase of calcium in your blood because of faulty calcium receptors in your body. Treatment is typically considered unnecessary because it is a benign condition. FHH can be difficult to distinguishfrom primary hyperparathyroidism, for which parathyroidectomy is typically performed; individuals with FHH are typically advised to avoid parathyroidectomy.

In the medical literature, some authors reference different types of familial hypocalciuric hypercalcemia (FHH) - types 1, 2 and 3. These subtypes of FHH are generally used to describe forms of the condition that are genetically distinct (i.e. are caused by mutations in different genes). In more than 65% of families affected by FHH, the condition is due to mutations in the CASR gene, which is located on chromosome 3. In the other families affected by FHH, the exact genetic abnormality that causes the condition has not yet been identified. Researchers have discovered that one of two other genes, located at different parts of chromosome 19, may be responsible for the condition in some of these remaining individuals. These three genetically distinct types of FHH have therefore been designated as FHH type 1 (due to a mutation in the CASR gene at chromosome 3q21.1) and FHH types 2 and 3 (due to genetic abnormalities at chromosome locations 19p and 19q13, respectively).

Hypochondrogenesis

Hypochondrogenesis is a rare form of skeletal dysplasia (or dwarfing syndrome) caused by mutations in the COL2A1 gene. The COL2A1 gene provides the instruction for the formation of collagen II, which is a major building block of cartilage, a major component of bone. Because of these mutations, infants with hypochondrogenesis have defects in their bone formation that cause them to have severely shortened limbs (arms and legs) and a small chest with short ribs.

Hypochondroplasia

Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. It is also known as "achondroplasia tarda" and "atypical achondroplasia."

Hypochromic microcytic anemia with iron overload

Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth.

In hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood.

Hypocomplementemic urticarial vasculitis

A rare condition characterized by the presence of recurring urticarial vasculitis, arthralgia or arthritis and hypocomplementemia. Hypocomplementemia involves a reduction or absence of blood complement which is a part of the body's immune system which destroying invading bacteria or other pathogens.

Hypodermyasis

A parasitic infection by the larva of certain flies (Hypoderma bovis or H. lineatum). These flies are usually parasites that infect cattle in the warmer areas of the northern hemisphere. Humans are accidental hosts who may inadvertently swallow the eggs. Symptoms depend on where the larva migrate to - neurological and eye symptoms are more likely to produced severe symptoms.