Diseases

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.

Hypodontia dysplasia of nails

Tooth and nail syndrome is a rare genetic disorder that belongs to a group of diseases known as ectodermal dysplasia, which group consists of more than 100 separate recognized syndromes. Ectodermal dysplasias typically affect the teeth, nails, hair, and/or skin.

Hypodontia- X-linked

A genetic , X-linked condition characterized by the congenital absence of teeth. The number of teeth absent is variable.

Hypofibrinogenemia- familial

A familial condition involving low blood fibrinogen levels. Fibrinogen is an important factor in blood coagulation. As there is still some fibrinogen present, bleeding problems are usually only mild

Hypogonadotropic hypogonadism-anosmia- X-linked

Hypogonadotropic hypogonadism without anosmia, X-linked: A rare X-linked disorder involving a deficiency of sex hormones (leutinizing and follicle-stimulating hormone). It is similar to Kallman syndrome but the sense of smell is preserved.

Hypokalemia

Hypokalemia refers to the condition in which the concentration of potassium in the blood is low. The prefix hypo- means low (contrast with hyper-, meaning high). Kal refers to kalium, the Neo-Latin for potassium, and -emia means "in the blood." Normal serum potassium levels are between 3.5 to 5.0 mEq[1]; at least 95% of the body's potassium is found inside cells, with the remainder in the blood. This concentration gradient is maintained principally by the Na+/K+-ATPase pump

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis is an inherited disorder that causes occasional episodes of muscle weakness. It is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic paralysis

Hypolipoproteinemia

Hypolipoproteinemia is defined as a lack of lipoprotein in the blood due to genetic or other diseases such as malnutrition and malabsorption.

Hypomagnesemia primary

Hypomagnesemia primary: Low blood magnesium levels which is caused by the abnormal absorption and excretion of the mineral and can be caused by such things as kidney problems and intestinal malabsorption.

Hypomandibular faciocranial dysostosis

Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.