Diseases

Progeroid syndrome Petty type

A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies

Prognathism dominant

A dominantly inherited protruding jaw which is often associated with other facial anomalies.

Prognathism- mandibular

Pathologic mandibular prognathism is a potentially disfiguring, genetic disorder where the lower jaw outgrows the upper, resulting in an extended chin.

Progressive acromelanosis

An inherited, progressive pigment disorder involving spreading areas of dark pigmentation on the tops of the fingers and toes. The neck, face and limbs may eventually be involved.

Progressive external ophthalmoplegia

A slow progressive paralysis of the motor nerves of the eye (external eye muscles). The condition is often abbreviated to PEO. PEO is usually caused by mitochondrial diseases such as mitochondrial myopathy. Muscles are the most frequently affected organs in mitochondrial disease.

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.

Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).

There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.

In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.

The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.

Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis-1 (PFIC) refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. PFIC1 is the less frequent type of PFIC. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, hepatic failure, and the need for liver transplantation.

Progressive Familial Intrahepatic Cholestasis 2

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis, is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.

Progressive Familial Intrahepatic Cholestasis 3

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis, is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. The condition usually leads to end-stage liver disease by the end of the second decade.

Progressive Familial Intrahepatic Cholestasis 4

Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition with early childhood onset of severe progressive liver disease. Children are unable to drain bile from the liver even though the large bile ducts are open (called cholestasis). Most patients require liver transplant in childhood

Progressive hearing loss stapes fixation

A rare condition characterized by hearing loss, fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable) and reduced vestibular response

Progressive hemifacial atrophy

Progressive hemifacial atrophy (also known as progressive Parry–Romberg syndrome) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise etiology and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 – 15 years of age.

In addition to the connective tissue disease, the condition is often accompanied by significant neurological, ocular and oral signs and symptoms. The range and severity of associated symptoms and findings are highly variable.

Progressive kinking of the hair- acquired

A very rare disorder where patches of hair become progressively frizzy and leads to loss of hair. The areas affected are those that correspond to male-pattern balding.

Progressive multifocal leukoencephalopathy

Progressive multifocal leukoencephalopathy (PML) is a rare and usually fatal viral disease characterized by progressive damage (-pathy) or inflammation of the white matter (leuko-) of the brain (-encephalo-) at multiple locations (multifocal). It is caused by the JC virus, which is normally present and kept under control by the immune system. JC virus is harmless except in cases of weakened immune systems. In general, PML has a mortality rate of 30–50 percent in the first few months and those who survive can be left with varying degrees of neurological disabilities.

PML occurs almost exclusively in patients with severe immune deficiency, most commonly among patients with acquired immune deficiency syndrome (AIDS), but people on chronic immunosuppressive medications including chemotherapy are also at increased risk of PML, such as patients with transplants, Hodgkin's Lymphoma, multiple sclerosis, psoriasis and other autoimmune diseases.

Progressive muscular atrophy

Progressive muscular atrophy (PMA), also known as Duchenne-Aran muscular atrophy and by various other names, is a rare subtype of motor neuron disease (MND) that affects only the lower motor neurons. PMA is thought to account for around 4% of all MND cases. This is in contrast to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurones, or primary lateral sclerosis, another rare MND variant, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than classic ALS.

Progressive myositis ossificans

A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.

Progressive osseous heteroplasia

A very rare disorder where bone forms in abnormal parts of the body such as the skin. The extent and location of the abnormal bone formation is variable.

Progressive pseudorheumatoid arthropathy of childhood

Progressive pseudorheumatoid arthropathy of childhood (PPAC) also called Progressive pseudorheumatoid disyplasia (PPD, SEDT-PA) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.

PPRD usually begins in childhood, between ages 3 and 8. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and in the knees. Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints. Hip pain is a common problem by adolescence. Affected individuals have flattened bones in the spine (platyspondyly) that are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short torso. At birth, people with PPRD are of normal length, but by adulthood, they are usually shorter than their peers. Affected adults also have abnormal deposits of calcium around the elbow, knee, and hip joints and limited movement in all joints, including those of the spine.

PPRD is often mistaken for another joint disorder that affects young people called juvenile rheumatoid arthritis. However, the joint problems in juvenile rheumatoid arthritis are associated with inflammation, while those in PPRD are not. It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis.

 

Progressive supranuclear palsy

Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.

Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance.

Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze.

Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.

Risk factors:
The only proven risk factor for progressive supranuclear palsy is age. The condition typically affects people around the age of 60, and is virtually unknown in people under the age of 40.

Prolactinoma- familial

A pituitary tumor that secretes prolactin and occurs in a familial pattern of inheritance. The tumor is benign but can cause symptoms due to high prolactin levels or compression of the optic nerve.

Prolidase deficiency

A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.

Prolymphocytic leukemia

Prolymphocytic leukaemia is a specific type of leukaemia. Prolymphocytic leukaemia affects B lymphocytes in about four out of five case. About one in five cases of PLL affects T lymphocytes. The cells seen in the blood are large immature lymphocytes called prolymphocytes. PLL is similar to CLL but affects a more immature cell type.

Prolymphocytic leukemia is divided into two types according to the kind of cell involved: B-cell prolymphocytic leukemia and T-cell prolymphocytic leukemia. It is usually classified as a kind of chronic lymphocytic leukemia.

B-cell prolymphocytic leukemia is a more aggressive, but still treatable, form of leukemia. The malignant B cells are larger than average. The name is commonly abbreviated B-PLL. It can involve deletions from chromosome 11 and chromosome 13. It has been suggested that some cases may represent a variant of mantle cell lymphoma. It has a relatively poor prognosis.

T-cell-prolymphocytic leukemia (T-PLL) is a mature T-cell leukemia with aggressive behavior and predilection for blood, bone marrow, lymph nodes, liver, spleen, and skin involvement. It is involving a proliferation of immature white blood cells (prolymphocytes - T-cells).T-PLL is a very rare leukemia, primarily affecting adults over the age of 30. It represents 2% of all small lymphocytic leukemias in adults.

Properdin deficiency

A rare condition where an inherited deficiency of properdin (a blood plasma component) affects immunity. In particular, susceptibility to meningococcal disease is increased. There are three subtypes of the disorder: type I is a total deficiency, type II is a partial deficiency and type III is a deficiency due to abnormal function of the properdin.

Properdin deficiency- X-linked

A rare condition where an inherited deficiency of properdin (a blood plasma component) affects immunity. In particular, susceptibility to Neisseria infections is increased.

Propionic acidemia

Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.

The disorder presents in the early neonatal period with progressive encephalopathy. Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke.

Propionic acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.