Diseases

Ovarian epithelial cancer

Ovarian epithelial cancer is a subtype of ovarian cancer. Ovarian cancer is a cancer that begins in an ovary. It results in abnormal cells that have the ability to invade or spread to other parts of the body. When this process begins, symptoms may be vague or not apparent, but they become more noticeable as the cancer progresses. These symptoms may include bloating, pelvic pain, and abdominal swelling, among others. Common areas to which the cancer may spread include the lining of the abdomen, lining of the bowel and bladder, lymph nodes, lungs, and liver.

The risk of ovarian cancer increases in women who have ovulated more over their lifetime. This includes those who have never had children, those who begin ovulation at a younger age or reach menopause at an older age. Other risk factors include hormone therapy after menopause, fertility medication, and obesity. Factors that decrease risk include hormonal birth control, tubal ligation, and breast feeding. About 10% of cases are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% chance of developing the disease.

Ovarian insufficiency- familial

A rare inherited disorder where the ovaries fail to function normally despite normal levels of hormones that stimulate ovarian activity. Ovarian failure is a normal phase of aging and is associated with menopause but it is termed ovarian insufficiency when it occurs in a female under the age of 40

Ovarian low malignant potential tumor

Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. Ovarian low malignant potential tumors have abnormal cells that may become cancer, but usually do not. This disease usually remains in the ovary. When disease is found in one ovary, the other ovary should also be checked carefully for signs of disease.

Ovarian remnant syndrome

A rare condition where ovarian tissue is left in the pelvic cavity following the removal of ovaries and fallopian tubes causes pelvic pain. The tissue that is left behind can form cysts which can enlarge and pull on nearby adhesions causing pain. Pain can also occur when remaining ovarian tissue produces hormones that stimulate endometriosis

Overfolded helix

An abnormal ear appearance where the upper edge of the ear is folded over to a greater degree than normal

Overgrowth syndrome type Fryer

A rare disorder involving excessive growth resulting in a large birth size and excessive growth following birth. Adults with this disorder also tend to be excessively tall.

Overhydrated hereditary stomatocytosis

A rare disorder where abnormal red blood cell membranes fail to regulate movement of sodium and potassium into and out of the red blood cell. The red blood cell accumulates too much salt and water which causes it to burst. Destruction of red blood cells leads to anemia. The red blood cells are abnormally shaped and resemble a stoma or mouth

Oxalosis

A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.

Pachydermoperiostosis

A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.

Pachygyria

Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy.

Pachygyria- frontotemporal

A recessively inherited disorder characterized by abnormal brain development (pachygyria), mental retardation and various other abnormalities.

Pachyonychia Congenita

PC is an ultra rare genetic skin disorder caused by a single mutation in one of at least four keratin genes including K6a, K6b, K16 or K17. PC may be hereditary (inherited from a parent who has PC) or may be spontaneous (a mutation occuring when no parent or other family member has PC).

Pacman dysplasia

A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.

Paget disease

Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.

Paget disease extramammary

A rare cancer characterized by a chronic rash that resembles eczema and usually occurs on the genital and anal areas.

Paget’s disease of the breast

Paget's (PAJ-uts) disease of the breast is a rare form of breast cancer, accounting for less than 5 percent of all breast cancers. Paget's disease of the breast starts in the breast ducts and extends to the skin of the nipple and to the dark circle of skin (areola) around the nipple. Paget's disease of the breast isn't related to Paget's disease of the bone, a metabolic bone disease. Paget's disease of the breast occurs most often in women over age 50. Most women with Paget's disease of the breast have underlying infiltrating ductal breast cancer. Only in rare cases is the cancer confined to the nipple itself.

Paget’s disease- type 1

A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.

Pagon Stephan syndrome

A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.

Paine syndrome

Paine syndrome is a rare genetic condition that is present at birth. Characterized by an undersized head and related abnormalities in the brain, the disease results in severe mental and physical retardation, movement disorders, and vision problems. Most infants with Paine syndrome do not survive their first year of life.

Palant cleft palate syndrome

A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.

Palindromic rheumatism

A rare disorder involving periodic inflammation in and around joints. Eventually, rheumatoid arthritis may develop if the condition persists.

Pallidopyramidal syndrome

A rare disorder characterized by pyramidal signs and parkinsonism caused by a degeneration of the pyramidal tract and the part of the brain called the pallidum.

Pallister Killian syndrome

Pallister–Killian syndrome ( tetrasomy 12p mosaicism, Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister-Killian is a mosaic condition.

It was first described by Philip Pallister in 1977 and further researched by Maria Teschler-Nicola and Wolfgang Killian in 1981

Pallister W syndrome

A rare genetic disorder involving distinctive facial features, mental retardation, speech problems and limb deformities