Diseases

Familial hypersecretion of adrenal androgens

Familial hypersecretion of adrenal androgens: A rare familial disorder that occurs in women. The adrenal glands develop abnormally and produce excess androgens which results in hormonal problems.

Familial hypertension

Familial hypertension: An inherited from of high blood pressure that tends to run in families.

Familial Hypoalphalipoproteinemia

Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50.

Severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease. People with Tangier disease have additional signs and symptoms, such as disturbances in nerve function; enlarged, orange-colored tonsils; and clouding of the clear covering of the eye (corneal clouding). However, people with familial HDL deficiency do not have these additional features.

Familial Hypocalciuric Hypercalcemia

The vast majority of FHH is caused by autosomal dominant loss-of-function mutations in the gene CASR, which codes for the calcium-sensing receptor (CASR). CASR is a G-protein coupled membrane receptor expressed in the parathyroid glands and the kidneys, among other tissues.

 

Familial hypopituitarism

Familial hypopituitarism: Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are determined by the degree and type of hormone deficiency involved.

Familial interstitial fibrosis

Familial interstitial fibrosis: A rare familial disorder involving fibrosis and scarring of the lung tissue which causes the lung to become stiff and unable to function normally.

Familial juvenile hyperuricaemic nephropathy

Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal dominant renal disease characterised by juvenile onset of hyperuricaemia, gouty arthritis, and progressive renal failure at an early age. 

Familial Lipoprotein Lipase Deficiency

Familial Lipoprotein Lipase Deficiency (LPLD) is a rare inherited condition, in which the normal breakdown of fats in the body is disrupted due to defects in the lipoprotein lipase.

Fats in our diet are broken down in the small intestine into small fatty fragments, such as cholesterol and triglycerides. Within cells lining the intestines, these small fragments are immediately ‘re-assembled’ into particles called ‘chylomicrons’ allowing them to be transported in the bloodstream to other body parts to provide energy, maintain healthy cells, and build hormones. Lipoprotein lipase (LPL) is a key protein (enzyme) that ensures triglycerides are ‘unloaded’ from chylomicrons. Absence of this enzyme leads to increased blood triglyceride and chylomicron levels and, therefore, to most of the signs and symptoms of LPLD.

Alternative names are:

• Familial hyperchylomicronemia

• Familial fat-induced hypertriglyceridemia

• Familial LPL deficiency

• Hyperchylomicronemia, Familial

• Familial Hyperlipoproteinemia Type I

• Lipase D deficiency

• LIPD deficiency

• Lipoprotein Lipase Deficiency, Familial

  

Source: lpldeficiency; Genetics Home Reference

 

Familial Mediterranean fever

Familial Mediterranean fever is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.

Familial Mediterranean fever is an inherited disorder that usually occurs in people of Mediterranean origin — including Sephardic Jews, Arabs, Greeks, Italians, Armenians and Turks. But it may affect any ethnic group.

Familial Melanoma

FAMMM syndrome. An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; (2) many moles, some of which are atypical (asymmetrical, raised, and/or different shades of tan, brown, black, or red) and often of different sizes; and (3) moles that have specific features when examined under a microscope. FAMMM syndrome increases the risk of melanoma and may increase the risk of pancreatic cancer .

Familial multiple trichodiscomas

Familial multiple trichodiscomas: A familial condition involving the development of multiple benign tumors in the hair discs. Dome-shaped, skin-colored papules form on various parts of the body including the head, neck, chest, arms and back.

Familial myelofibrosis

Familial myelofibrosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement.

Familial nasal acilia

Familial nasal acilia: A rare birth defect where the cilia (hairs) in the nose are absent which leads to a build up of mucus and debris inside the nose. This accumulation of waste provides an ideal environment for bacterial infections.

Familial neurocardiogenic syncope

Syncope, familial neurocardiogenic: A familial condition where a person suffers an increased tendency to faint due to a sudden drop in blood pressure .

Familial non-immune hyperthyroidism

Hyperthyroidism is a condition in which overactivity of the thyroid gland causes too much thyroid hormone to build up in the bloodstream. As a result, processes in the body speed up. Left untreated, hyperthyroidism can have serious health consequences. The thyroid gland sits just below the Adam's apple in the neck. It secretes hormones that regulate a person's metabolism, the physical and chemical processes necessary for the maintenance of life. Thyroid hormones help to: * Control the rate at which the body uses fats and carbohydrates * Maintain body temperature * Influence heart rate * Regulate the amount of calcium in the blood A complex chain leads to hormone production in the thyroid. The hypothalamus in the brain signals the pituitary gland to make and release thyroid-stimulating hormone (TSH). TSH causes the release of the major thyroid hormones, thyroxine (T4) and triiodothyronine (T3). Disorders that affect the thyroid have a crucial effect on the proper release of these hormones, which may alter a person's metabolism and potentially lead to significant health problems. Hyperthyroidism occurs when a person’s thyroid produces too much thyroxine. This leads to a speeding up of metabolism that can result in many different symptoms, including enlargement of the gland (goiter) and sudden unexplained weight loss. In addition, some cases of hyperthyroidism cause the eyes to bulge beyond their normal socket. Tissues and muscles behind the eyes swell, a condition known as Graves' ophthalmopathy. Hyperthyroidism also can affect the skin, particularly on the shins and feet. Redness and swelling are the most common symptoms associated with the skin. Several complications are associated with hyperthyroidism. Some patients may develop heart problems such as rapid heart rate, atrial fibrillation (heart rhythm disorder) and heart failure (inability of the heart to circulate enough blood to meet the body's needs). Hyperthyroidism also can lead to brittle bones (osteoporosis) and fractures, as excessive levels of thyroid hormone can prevent the body from incorporating calcium into the bones. According to recent research, thyroid disease may raise the risk of glaucoma, a leading cause of blindness. Finally, people with hyperthyroidism are at increased risk for thyrotoxic crisis. This is also known as thyroid crisis or thyroid storm. When this occurs, patients may experience a sudden intensification of their symptoms, including fever, rapid pulse and delirium.

Familial opposable triphalangeal thumbs duplication

Familial opposable triphalangeal thumbs duplication: A rare birth malformation where the thumb has three bones instead of the normal two which gives it a fingerlike appearance. An extra toe is also present.

Familial periodic paralysis

Familial periodic paralysis: A familial condition involving recurring episodes of muscle weakness or paralysis. The episode may last for hours or days.

Familial polyposis

A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60.

Familial porencephaly

Familial porencephaly: A very rare developmental abnormality that tends to run in families and is characterized by a localized accumulation of cerebrospinal fluid in the brain. The severity of symptoms is determined by the size and location of the brain abnormality.

Familial streblodactyly

Familial streblodactyly: A familial anomaly where the fingers are permanently twisted and crooked.

Familial symmetric lipomatosis

Familial symmetric lipomatosis (medical condition): A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.

Familial Treacher Collins syndrome

Treacher Collins syndrome is a rare birth defect that often causes deformities in the size and shape of various facial features. Affected areas of the face include the ears, eyelids, cheekbones, and the upper and lower jaws. Treacher Collins syndrome is also known as Franceschetti-Zwalen-Klein syndrome or mandibulofacial dysostosis. The condition occurs in one in every 50,000 live births, according to the National Institutes of Health. An English physician named Edward Treacher Collins was the first to describe this syndrome in 1900. Children who are affected may experience a range of symptoms from mild to severe. In some cases, symptoms are so mild that they can only be detected by an expert. However, in other cases the physical signs of Treacher Collins syndrome can be very obvious. Symptoms may include underdeveloped cheekbones and jawbones, deformity of the roof of the mouth (cleft palate), eyelid problems and ear deformities. Because deformities of the outer and middle ear are common, hearing loss often accompanies the syndrome. While children with Treacher Collins syndrome often have marked physical deformities, their mental capabilities are usually unimpaired. In the past, it was thought that Treacher Collins syndrome created mental impairment in a large number of children. Today, experts realize that hearing loss can cause the learning disorders or speech impairments that can accompany Treacher Collins syndrome.

Familial veinous malformations

Familial venous malformations: A rare condition where localized areas of blood vessels undergo changes and may result in bleeding. Severity of the condition depends on the location of these lesions. Lesions can occur in internal organs where bleeding can result in death. Lesions can also occur on the skin, inside the mouth and even on the genitals.