Diseases

Addison’s disease

Addison’s disease is a rare, chronic endocrine system disorder in which the adrenal glands do not produce sufficient steroid hormones (glucocorticoids and mineralocorticoids). It is characterised by a number of relatively nonspecific symptoms, such as abdominal pain and weakness, but under certain circumstances, these may progress to Addisonian crisis, a severe illness which may include very low blood pressure and coma.

The condition arises from problems with the adrenal gland, primary adrenal insufficiency, and can be caused by damage by the body's own immune system, certain infections, or various rarer causes. Addison's disease is also known as chronic primary adrenocortical insufficiency, to distinguish it from acute primary adrenocortical insufficiency, most often caused by Waterhouse–Friderichsen syndrome. Addison's disease should also be distinguished from secondary and tertiary adrenal insufficiency, which are caused by deficiency of ACTH (produced by the pituitary gland) and CRH (produced by the hypothalamus), respectively. Despite this distinction, Addisonian crises can happen in all forms of adrenal insufficiency.

Adducted thumb and clubfoot syndrome

Adducted thumb and clubfoot syndrome is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. It is also characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies. This condition is caused by mutations in the CHST14 gene.

Adducted thumb syndrome recessive form

Adducted thumb syndrome recessive form, also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate, is a rare disease affecting multiple systems which causes malformations of the palate, thumbs, and upper limbs.  It is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of the thumb and feet, a typical facial appearance, and normal cognitive development. This is caused by mutation in the CHST14 (CARBOHYDRATE SULFOTRANSFERASE 14) gene.

Adenine phosphoribosyltransferase deficiency

Purines are key components of cellular energy systems (eg, ATP, NAD) signaling (eg, GTP, cAMP, cGMP) and along with pyrimidines, RNA and DNA production. Purines and pyrimidines may be synthesized de novo or recycled by a salvage pathway from normal catabolism. The end product of complete catabolism of purines is uric acid; catabolism of pyrimidines produces citric acid cycle intermediates.

Adenoameloblastoma

Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst.  Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw.

Adenocarcinoid tumor

A rare type of tumor that occurs in the gastrointestinal tract and tends to metastasize. The symptoms are determined by the location of the tumors.

Adenocarcinoma of lung

Adenocarcinoma of the lung (pulmonary adenocarcinoma) is a common histological form of lung cancer that contains certain distinct malignant tissue architectural, cytological, or molecular features, including gland and/or duct formation and/or production of significant amounts of mucus.

It occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people can experience chest pain, a persistent cough, fatigue, coughing up blood, loss of appetite, unexplained weight loss, shortness of breath, and/or wheezing.

It is one of the most common forms of cancer that affects adults in the United States, can be classified broadly into small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC). The latter variety can be further classified into adenocarcinoma, squamous cell and large cell varieties. Conceptually, the difference between SCLC and NSCLC is the approach that is taken in both performing the diagnostic workup and the treatment planning. SCLC tends to be widely disseminated at its first presentation, thus favoring the use of chemotherapy as the mainstay of treatment. NSCLC, on the other hand, may be localized to the lung at the time of first presentation, favoring the use of surgical resection with or without radiation therapy as the initial mainstay of treatment.

Adenoid cystic carcinoma

Adenoid cystic carcinoma is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy.

Adenoma of the adrenal gland

The adrenal glands are situated over the top of each kidney. Adrenal adenomas are benign (non-cancerous) tumours of the adrenal gland. They arise from the outer layer of the gland, called the adrenal cortex. The adrenal cortex normally makes hormones that belong to the steroid family. If an adrenal adenoma produces hormones, it is called 'functioning', though this term makes them sound healthy when in fact such adenomas often produce excessive amounts of steroid hormones. If an adenoma does not produce a hormone it is termed 'non-functioning'. Adrenal adenomas are often found by chance during a scan of the body for an unrelated condition. However, all adrenal masses (lumps) need careful evaluation to ascertain their nature, especially to see whether they are producing hormones.

Adenomyosis

Adenomyosis is a medical condition characterized by the presence of ectopic endometrial tissue (the inner lining of the uterus) within the myometrium (the thick, muscular layer of the uterus). The condition is typically found in women between the ages of 35 and 50. Patients with adenomyosis can have painful and/or profuse menses (dysmenorrhea & menorrhagia, respectively). Adenomyosis may involve the uterus focally, creating an adenomyoma, or diffusely. With diffuse involvement, the uterus becomes bulky and heavier.

Adenosarcoma of the uterus

Adenosarcoma of the uterus is a rare tumor of the uterus that typically originates in the lining of the uterus (endometrium). This type of tumor is characterized by both benign (noncancerous) and malignant components (low-grade sarcoma). Typical symptoms in affected individuals may include abnormal vaginal bleeding, an enlarged uterus, and tissue protruding from the external os (external opening of the uterus that leads into the cavity of the cervix). It is most common in post-menopausal women but can affect women of any age. Factors that may predisposed an individual to the condition include hyperestrogenemia (high blood estrogen levels), chemotherapy, or radiotherapy. Recommended treatment includes hysterectomy, usually accompanied by bilateral salpingo-oophorectomy (removal of fallopian tubes and ovaries). Ovarian conservation is an option for reproductive age women.

Adenosine deaminase deficiency

Adenosine deaminase deficiency is an inherited condition that affects the immune system and typically leads to severe combined immunodeficiency (SCID). People with SCID have a reduced or absent immune response which leaves them vulnerable to frequent bacterial, viral, and fungal infections. Most people affected by ADA develop symptoms of the condition before 6 months of age. However, approximately 10-15% of affected people have a "delayed" onset of symptoms; diagnosis of these cases, which are often less severe, typically takes place later in childhood (often between age 1 and 10) or even into adulthood.

Adenosine monophosphate deaminase deficiency

Adenosine monophosphate deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood.

Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency is a rare, inherited metabolic disorder. In ASLD, the enzyme adenylosuccinate lyase (ASL) does not work properly anymore. The adenylosuccinate lyase is involved in the synthesis of purines, which are needed for energy metabolism and are also building blocks of DNA. The defect in this enzyme leads to an accumulation of two chemicals, succinylaminoimidazole carboxamide riboside (SAICA riboside) and succinyladenosine, in cerebrospinal fluid, blood plasma and in urine. It is unclear whether the pathological mechanisms of this disease result from a deficiency of purines, a toxicity of intermediates, or perturbation of another pathway or system. Symptoms of ASLD are highly variable, but the onset of this disease is in general in early infancy. Symptoms include a wide range of neurological features (e.g. epilepsy, autistic features, psychomotor retardation) and can sometimes also include abnormal physical features (e.g. severe growth failure, brachycephaly, low set ears). 

Adie syndrome

Adie syndrome is a neurological disorder which affects the pupil of the eye and the autonomic nervous system. It is caused by damage to the postganglionic fibers of the parasympathetic innervation of the eye, usually by a viral or bacterial infection which causes inflammation and damage to neurons in the ciliary ganglion, an area of the brain that controls eye movements, and the spinal ganglion, an area of the brain involved in the response of the autonomic nervous system. It is  characterized by a tonically dilated pupil. Most cases of Adie Syndrome are not progressive, life threatening, or disabling.

Adiposis dolorosa

Adiposis dolorosa, also known as Dercum's disease (and which is different from Ander's disease in which painful or painless fatty growths resolve with weight loss), is a rare disease characterized by multiple painful lipomas that arise in adult life. Older medical literature states that "the disease occurs most often in obese postmenopausal women, but can also occur in men." Surveys of current sufferers seem to indicate that the disease causes the obesity. It also occurs in men and women of all ages. The fatty tumors are most often located on the trunk and limbs with sparing of the face and hands. It was first formally described by Francis Xavier Dercum in 1888

Adnexal- spiradenoma/cylindroma- of a sweat gland

Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time.

Adolescent Idiopathic Scoliosis

Adolescent Idiopathic Scoliosis (AIS) is a lateral (side) curvature of the spine that can occur in children aged 10 to maturity. The spine may curve to the left or right. Sometimes AIS may start at puberty or during an adolescent growth spurt.

Adrenal adenoma- familial

A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).

Adrenal cancer

Adrenal cancer is a rare cancer that develops in the small, triangular glands located on top of your kidneys (adrenal glands). Adrenal glands produce hormones that give instructions to virtually every organ and tissue in your body. 
Adrenal cancer is often aggressive. When found early, adrenal cancer can be cured. But if the cancer has spread to areas beyond the adrenal gland, cure becomes less likely. Treatment can be used to delay progression or recurrence.
Noncancerous (benign) adrenal tumors, such as adenomas or pheochromocytoma, also can develop in the adrenal glands. The majority of adrenal tumors are benign adenomas, meaning they are not cancerous. In fact, only about one person out of every million people worldwide will develop a cancerous adrenal tumor. When cancer starts in the cortex, it is called adrenocortical carcinoma. When cancer starts in the medulla it is called neuroblastoma or pheochromocytoma, depending on which cells it arises from. About 10 percent of cases of pheochromocytoma occur in children.

Adrenal gland hyperfunction

Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity. 

When cortisol is overproduced, it is called Cushing's syndrome and when aldosterone is overproduced, it is called hyperaldosteronism.

Adrenal gland hypofunction

The adrenal gland produce hormones that affect various functions in the body. Some of these hormones are cortisol, aldosterone and androgens such as testosterone. When the adrenal glands are underactive or in a state of hypofunction, they produce low amounts of these hormones. Adrenal hypofunction, also called adrenal insufficiency, is caused by several conditions including autoimmune disease. Treatment for adrenal hypofunction is available once its symptoms are correctly recognized.

Adrenal hypertension

High blood pressure due to increased production of certain hormones by the adrenal gland. The increased hormone production by the adrenal gland is often due to a functioning (hormone-secreting) tumor in the adrenal gland.

Adrenal medulla neoplasm

The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex.

Adrenocortical carcinoma

Adrenocortical carcinoma is a rare cancer affecting the outside of the adrenal glands (adrenal cortex). These glands are on top of each kidney and are responsible for producing certain hormones and keeping blood pressure at normal levels. Adrenocortical carcinoma is relatively frequent in children compared to many other cancers, although the cancer may also affect adults. Girls are more often affected than boys. Symptoms of adrenocortical carcinoma may include pain in the abdomen, hypertension, weight gain, frequent urination and possibly deepening of the voice. These symptoms are due to the tumors causing excess secretion of hormones from the adrenal glands.

Adrenocortical carcinoma may develop by chance alone, but at least 50% of the cancers are thought to be hereditary. There are a number of genes that have changes (mutations) that can cause an adrenocortical carcinoma, including TP53 and IGF2. There have been reports of both autosomal dominant inheritance and autosomal recessive inheritance.

An adrenocortical carcinoma is diagnosed based on urine tests for abnormal levels of cortisol, the hormone released by the adrenal glands. Blood tests can also be conducted to measure levels of potassium and sodium in the blood. A CT scan or MRI may be used to search for a visible tumor in the adrenal cortex. Treatment options include surgical removal of the tumor, which is important to achieve a good long-term outlook. Chemotherapy, specifically a drug called mitotane, can be used to try to remove any remaining cancer after surgery.

Adrenocorticotropic hormone deficiency

Adrenocorticotropic hormone deficiency (ACTH Deficiency) is a rare endocrine disorder involving a lack of ACTH (adrenocorticotropic hormone) and low levels of cortisol and steroid hormones.

Adrenoleukodystrophy- autosomal- neonatal form

Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids). 

Adrenomyodystrophy

A rare genetic disorder characterized by primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation and an overly-distended bladder which can cause death.