Premature ovarian failure is a rare disorder where the ovaries fail to function prematurely. Ovarian failure can occur in the 20's or 30's. Normal ovarian failure occurs during menopause. Premature ovarian failure can be caused by a genetic mutation and can occur sporadically or in a familial pattern.
Alternative Names: Hearing loss - age related; Presbycusis Age-related hearing loss, or presbycusis, is the slow loss of hearing that occurs as people get older.
Primary agammaglobulinemia: A genetic disorder characterized by a deficiency of antibodies due to abnormal development of B lymphocytes.
Primary amoebic meningoencephalitis (PAM, or PAME) is a disease of the central nervous system caused by infection from an amoeba such as Naegleria fowleri or Balamuthia mandrillaris.
Primary angiitis of the central nervous system: Inflammation of blood vessels that affect the central nervous system (brain and spinal cord). There are three main types within this category: benign angiitis of the central nervous system (BACNS), granulomatous angiitis of the central nervous system (GACNS) and atypical primary angiitis of the central nervous system (atypical ACNS). Symptoms vary depending on which particular type is involved and which part of the central nervous system is involved.
Primary biliary cholangitis (PBC) is a chronic disease that affects the bile ducts within the liver. The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. The bile ducts become inflamed and damaged, which causes bile to build up in the liver. This abnormal buildup destroys liver tissue and in later stages results in cirrhosis.
Primary biliary cirrhosis usually occurs between the ages of 40 and 60 and affects women more often than men. The cause of this condition is unknown, but research suggests that it is an autoimmune disease.
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.
Primary Central Nervous System Lymphoma (PCNSL) is a rare, aggressive type of lymphoma that originates in the brain and/or spinal cord, and does not spread to other parts of the body. It’s a subtype of non-Hodgkin lymphoma, often diagnosed in older adults, and is more common in men than women. While PCNSL can occur in anyone, it’s more likely to develop in people with weakened immune systems, such as those with HIV/AIDS or those taking immunosuppressant drugs.
Primary ciliary dyskinesia (PCD, immotile ciliary syndrome, Kartagener syndrome), is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube, as well as in the flagella ofsperm cells.
Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poormucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), which are currently the subject of dozens of research efforts. As the functions of cilia become better understood, the understanding of PCD should be expected to advance.
Primary ciliary dyskinesia, 2: A very rare disorder where the cilia fail to move. Type 2 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (19q13.3qter). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
Primary ciliary dyskinesia, 3: A very rare disorder where the cilia fail to move. Type 3 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (5p). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
Primary ciliary dyskinesia, 4: A very rare disorder where the cilia fail to move. Type 4 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect . The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
Primary cortisol resistance: A rare genetic disorder where the body is unable to respond to a hormone called cortisol. The body produces excess cortisol to compensate for this defect.
Craniosynostosis, is a medical condition in which some or all of the sutures in the skull of an infant or child close too early, causing problems with normal brain and skull growth. It can result in craniostenosis, which is the skull deformity caused by the premature closure of the cranial sutures. Also intracranial pressure can be increased.
Primary cutaneous amyloidosis: A rare disorder where a substance called amyloid is deposited in the skin resulting in discolored bumps or nodules in the skin. No other body organs are involved.
Primary effusion lymphoma: A cancerous proliferation of lymphocytic B-cells caused by the human herpesvirus 8 (HHV-8, Kaposi's sarcoma-associated herpesvirus). It is more prevalent in immunodeficient people such as AIDS patients. The cancer tends to occur in the lining of body cavities such as the pericardium and peritoneum. The cancerous cells are detected in the fluid secreted from the lining of the cavity.
primary familial xanthomatosis with adrenal calcification - also known as or related to primary familial xanthomatosis, acid lipase deficiency, acid esterase deficiency, lysosomal acid lipase deficiency, wolman xanthomatosis, wolman's disease (disorder)
Primary granulocytic sarcoma: A malignant tumor derived from immature white blood cells called myeloblasts. It can occur anywhere in the body but is most commonly found in bone, soft tissue, lymph nodes and skin. Symptoms will vary according to the location of the tumor.
Primary Humoral Immunodeficiency (hPID) refers to a group of hereditary conditions where a person’s immune system, specifically B cells and antibody production, doesn’t work correctly, leading to an increased susceptibility to recurrent or severe infections. These genetic disorders result in problems like decreased antibody levels (hypogammaglobulinemia) or the inability to fight infections effectively, often affecting the sinopulmonary tract (lungs and sinuses). Early diagnosis and treatment are crucial to prevent severe complications and improve health outcomes.
Primary hyperoxaluria type 1 is a rare condition that arises due to a mutation in the AGXT gene. AGXT codes for an enzyme that removes oxalate. However, the mutation leads to the production of alanine-glyoxylate aminotransferase (AGXT) that does not function properly.
Primary hyperoxaluria type 1 is characterized by the buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium to form the main component of kidney and bladder stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs.
Primary hyeroxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs.
Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern
IC-MPGN, also known as MPGN, is a type of glomerular disease where the glomeruli, responsible for filtering waste and excess fluid from the blood, become inflamed and damaged. This damage is caused by immune complexes, which are essentially clumps of antibodies and antigens, that get stuck in the glomeruli. The activation of the complement system, a part of the immune system, by these immune complexes leads to further inflammation and damage.
Primary Immunodeficiency Diseases (PIDDs), or inborn errors of immunity, are over 550 chronic, generally genetic conditions where part of the immune system is missing or fails to function, leading to increased susceptibility to infections. Symptoms include frequent, severe, or persistent infections (pneumonia, sinusitis), poor growth, and autoimmune issues. Treatments include antibody replacement, prophylactic antibiotics, and stem cell transplants.
Primary immunodeficiency disorders (also called primary immune disorders or primary immunodeficiency) weaken the immune system, allowing infections and other health problems to occur more easily.
Many people with primary immunodeficiency are born missing some of the body's immune defenses, which leaves them more susceptible to germs that can cause infections.
Some forms of primary immunodeficiency are so mild they may go unnoticed for years. Other types are severe enough that they're discovered almost as soon as an affected baby is born.
Primary malignant lymphoma: The excessive proliferation of lymphocytes which forms part of the immune system. Primary cancers refer to the fact that the cancer originated in the lymph cells rather than having metastasized.
Melanoma of the cervix is a rare and aggressive neoplasia. About 60% of the cases already had clinical evidence of tumor beyond the cervix at the time of diagnosis2,3 and the 5-year survival rate decreases from 40% for Stage I to 14% for other stages.4 Due to the rarity of the primary melanoma of the cervix, the possibility of metastatic neoplasia coming from a melanoma at a different site, or which may have been treated several years before, must always be investigated. In some cases it is impossible to locate the primary site of the disease. The case described did not have a history of any other melanoma, the largest tumoral volume being in the uterine cervix and spreading to the vagina. Moreover, the lentiginous pigmented malignant neoplasia of the vagina, with its in situ melanoma and focus of superficial invasion, is conclusive as to its primary origin in the lower genital tract.
Primary membranous nephropathy (pMN) is an auto-immune disease characterized by auto-antibodies targeting podocyte antigens resulting in activation of complement and damage to the glomerular basement membrane
Primary Mitochondrial Disease (PMD) is a group of genetic disorders resulting from dysfunctional mitochondria, which fail to produce sufficient energy (ATP) for cells. Affecting roughly 1 in 4,300–5,000 people, it often targets high-energy systems like the brain, nerves, and muscles. Symptoms are highly variable and progressive, ranging from fatigue and muscle weakness to severe organ failure.
Primary open angle glaucoma juvenile onset 1: A inherited form of open-angle glaucoma caused by a genetic mutation.