Diseases

Phenylketonuric embryopathy

Phenylketonuric embryopathy (medical condition): A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.

Pheochromocytoma

Pheochromocytomas are tumors of the adrenal gland which produce excess adrenaline. Pheochromocytomas arise from the central portion of the adrenal gland which is called the adrenal medulla. The adrenal medulla is responsible for the normal production of adrenaline which our body requires to help maintain blood pressure and to help cope with stressful situations. A tumor which arises from the adrenal medulla and overproduces adrenaline can be a deadly tumor because of the severe elevation in blood pressure it causes.

Pheochromocytoma as part of Neurofibromatosis

Pheochromocytoma as part of Neurofibromatosis: A tumor that develops in the part of the adrenal gland called the medulla which produces adrenalin and noradrenaline. This tumor is often associated with a condition called neurofibromatosis. The tumor affects automatic body activities such as regulating breathing rate and heartbeat.

Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia

Philadelphia chromosome-positive Acute Lymphoblastic Leukemia (Ph+ ALL) is a specific, aggressive subtype of ALL, defined by the fusion of the BCR and ABL1 genes, forming the Philadelphia chromosome, which leads to uncontrolled white blood cell growth. More common in adults, especially older adults, this cancer was historically very poor-prognosis but has seen dramatically improved outcomes with targeted Tyrosine Kinase Inhibitors (TKIs) added to chemotherapy, revolutionizing treatment. Management now involves TKIs to block the abnormal protein, often with chemotherapy and sometimes stem cell transplant, with a focus on personalized, less toxic approaches. 

Philadelphia-negative chronic myeloid leukemia

Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia). For Philadelphia-negative chronic myeloid leukemia, the exact cause of the disease is not known. Although a variety of medications have been used in chronic myeloid leukemia, including myelosuppressive agents and interferon alpha, the tyrosine kinase inhibitor imatinib mesylate is currently the agent of choice, and other drugs in this category are playing increasingly important roles. However, allogeneic bone marrow transplantation is currently the only proven cure for chronic myeloid leukemia.

Phocomelia contractures absent thumb

Phocomelia - contractures - absent thumb: A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones.

Phocomelia syndrome

Phocomelia syndrome:- Phocomelia is a congenital disorder involving the limbs (dysmelia). An individual exhibiting phocomelia may be referred to as a phocomelus.

Phosphate diabetes

Phosphate diabetes: A condition where the kidney tubules fail to reabsorb phosphate resulting in excess phosphate in the urine.

Phosphoglycerate kinase 1 deficiency

Phosphoglycerate kinase 1 deficiency: An inherited genetic muscle disease where an enzyme deficiency (phosphoglycerate kinase) affects the normal processes that convert carbohydrates from food into energy.

Phosphoglycerate kinase deficiency

Phosphoglycerate kinase deficiency is a hereditary metabolic muscle disease. There are two distinct syndromes. There is a pure muscle syndrome characterized by recurrent cramps and muscle breakdown in response to intense exercise, and a "muscle plus" syndrome which may feature mental retardation and/or haemolytic anaemia. Phosphoglycerate kinase is a complex enzyme. Several subtypes of phosphoglycerate kinase deficiency have been identified,1 based on the tissues in which the enzyme deficiency occurs, and the type of inheritance.

Phosphomannoisomerase deficiency

Phosphomannose isomerase deficiency: Another name for Congenital disorder of glycosylation type 1B (or close medical condition association). Congenital disorder of glycosylation type 1B:

Photosensitive epilepsy

Photosensitive epilepsy is a form of epilepsy in which seizures are triggered by visual stimuli that form patterns in time or space, such as flashing lights, bold, regular patterns, or regular moving patterns.

Phyllodes tumor of the prostate

Phyllodes tumor of the prostate: A rare type of tumor that occurs in the prostate. The tumor is usually benign but may become malignant and tends to have a leaf-like appearance.

Phyllodes tumors of the breast

Phyllodes tumors (or phylloides tumors) are rare breast tumors that start in the connective (stromal) tissue of the breast, not the ducts or glands (which is where most breast cancers start). Most phyllodes tumors are benign and only a small number are malignant (cancer).

Phyllodes tumors are most common in women in their 40s, but women of any age can have them. Women with Li-Fraumeni syndrome (a rare, inherited genetic condition) have an increased risk for phyllodes tumors.

Phyllodes tumors are often divided into 3 groups, based on how they look under a microscope:

  • Benign (non-cancerous) tumors account for more than half of all phyllodes tumors. These tumors are the least likely to grow quickly or to spread.
  • Borderline tumors have features in between benign and malignant (cancerous) tumors.
  • Malignant (cancerous) tumors account for about 1 in 4 phyllodes tumors. These tend to grow the fastest and are the most likely to spread or to come back after treatment.

Phytanic acid oxidase deficiency

Phytanic acid oxidase deficiency (medical condition): A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.

PIBIDS syndrome

PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.

Picardi-Lassueur-Little syndrome

Picardi-Lassueur-Little syndrome: A very rare disorder characterized by patches of hair loss involving the scalp, armpits, eyebrows and genitals. The hair loss on the scalp is accompanied by scarring of the skin. Hair follicles become eruptive and spiny usually months to years after hair loss.

Pick disease

Pick disease is a brain disorder that causes slowly worsening decline of mental abilities. It gradually damages brain cells and impairs their function. It disturbs cognitive processes, such as reasoning, problem solving, and memory. The disease often affects a person’s ability to use and understand spoken, written, and even signed language. It also affects personality, emotions, and social behavior. When the decline in mental abilities is severe enough to interfere with a person’s ability to carry out everyday activities, it is called dementia. Pick disease is named after Arnold Pick, the doctor who first described the disease in 1892. It is often compared to Alzheimer disease. However, Pick disease is different from Alzheimer disease in several ways. * First, the diseases affect different parts of the brain. Pick disease usually affects only the frontal and temporal lobes of the brain, the part from the forehead back to the ears. For this reason it is sometimes called “frontotemporal dementia.” Pick disease is only one of several types of frontotemporal dementia. * * Second, the diseases damage the brain in different ways. The changes they cause in the brain are distinct. Both diseases cause severe shrinkage (atrophy) of brain tissue and death of nerve cells called neurons. In Pick disease, the neurons contain abnormal protein accumulations called Pick bodies. Neurons may swell as they stop functioning. * * These differences translate to somewhat different symptoms for the two diseases. Memory loss, usually the first symptom in Alzheimer disease, may not occur in Pick disease until later in the disease. People with Pick disease may have early changes in mood, behavior, and use of language and speech (aphasia). * * On average, Pick disease occurs at a somewhat younger age than Alzheimer disease. In Pick disease, the first symptoms typically appear in middle age, in people aged 40-60 years. However, it can occur in adults of any age. Unfortunately, Pick disease is similar to Alzheimer disease in several ways. * It is a progressive disease, meaning that the symptoms gradually worsen over time and do not get better. * * The two diseases are equally devastating, causing gradual decline of mental functions and disability. * * Neither disease is curable. Much less is known about Pick disease than about Alzheimer disease. This is partly because Pick disease is a much less common disease. Also, Pick bodies and neuron swelling are difficult to detect in a living person, so Pick disease may go undiagnosed or be misdiagnosed. People with Pick disease are sometimes thought to have Alzheimer disease. This is changing as medical professionals learn more about Pick disease.

Piebaldism

Piebaldism: A rare genetic condition characterized by patches of lack of pigmentation that involves the skin and the hair.

Piepkorn Karp Hickok syndrome

Piepkorn Karp Hickok syndrome (medical condition): A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.