Diseases

Frydman Cohen Karmon syndrome

Frydman cohen karmon syndrome (medical condition): A rare disorder characterized by eye anomalies, webbed fingers and short stature.

Fryer syndrome

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

Fryns Fabry Remans syndrome

Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.

Fryns smeets thiry syndrome

Fryns-Smeets-Thiry syndrome: A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities.

Fryns syndrome

Fryns Syndrome: A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes.

Fuchs atrophia gyrata chorioideae et retinae

Fuchs atrophia gyrata chorioideae et retinae: A very rare disorder involving progressive degeneration of particular eye structures (choroids, pigment epithelium and retina). The condition causes the peripheral and night vision to progressively deteriorate and ultimately blindness occurs.

Fuchs endothelial corneal dystrophy

Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause.

The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include:

  • Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13)
  • Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations)
  • Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene)
  • Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15)
  • Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene)
  • Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9)
  • Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene).

Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.[

Fucosidosis

Fucosidosis is one of seven identified Glycoprotein storage diseases. These inherited diseases are part of a larger group of disorders called Lysosomal storage diseases. Lysosomes are membrane-bound compartments found in the cells of the body. These compartments contain enzymes, which are responsible for the breakdown of many different oligosaccharides (long sugar chains). These sugar chains are continuously made and broken down in our bodies, and this process is necessary for appropriate mental and physical development. Each enzyme in the lysosome is responsible for a certain step in the breakdown of the sugar chains. When an enzyme is not working, it leads to the build up of the sugar chains in the lysosome. In Fucosidosis, the specific enzyme that is absent is called alpha- fucosidase. The build up of oligosaccharide sugars that is caused, is gradual and interferes with the correct function of the cell. It This build up is gradual and eventually leads to the clinical features of Fucosidosis. Features may progress in severity over time.

Fucosidosis type 1

Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.

Fuhrmann syndrome

Fuhrmann syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).

Fukuda Miyanomae Nakata syndrome

Fukuda-Miyanomae-Nakata syndrome: A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies.

Fukuyama type muscular dystrophy

Fukuyama type muscular dystrophy (also known as Fukuyama congenital muscular dystrophy): A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy.

Fumaric aciduria

Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.

Functioning pancreatic endocrine tumor

Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.

Fuqua Berkovitz syndrome

Fuqua-Berkovitz syndrome: A rare syndrome characterized by ambiguous genitalia involving normal testes and Mullerian structures.

Furlong syndrome

Furlong syndrome (medical condition): A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.

Furukawa Takagi Nakao syndrome

Furukawa Takagi Nakao syndrome (medical condition): A very rare syndrome characterized by muscle weakness and wasting, ataxia, diabetes and eye problems.

Furunculous myiasis

Furunculois myiasis (medical condition): A rare condition where a larve invades tissues and organs and causes a furunculous (pus-filled) wound. It can be caused by the Cayor worm which is the larvae of the African tumbu fly (Cordylobia anthropophaga) or by the human botfly (Dermatobia hominis).

Fused mandibular incisors

Fused mandibular incisors: A rare tooth defect where the primary incisors (front teeth) of the lower jaw are fused.

Galactocele

A milk filled cyst caused by a blocked mammary duct.

Galactokinase deficiency

Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase

Galactorrhoea-Hyperprolactinaemia

Increased blood prolactin levels associated with galactorrhea (abnormal milk secretion). It may be caused by such things as certain medications, pituitary disorders and thyroid disorders. The condition can occur in males as well as females.

Galactosamine-6-sulfatase deficiency

Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA), also known as GALNS, is a human gene. This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorde

Galactose epimerase deficiency

Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency,[1] is a rare form of galactosemia associated with a deficiency of the enzyme galactose epimerase.

Galactosemia

Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death.

Gall bladder cancer

Gallbladder cancer is cancer that begins in the gallbladder. Your gallbladder is a small, pear-shaped organ on the right side of your abdomen, just beneath your liver. The gallbladder stores bile, a digestive fluid produced by your liver.

Gallbladder cancer is uncommon. When gallbladder cancer is discovered at its earliest stages, the chance for a cure is very good. But most gallbladder cancers are discovered at a late stage, when the prognosis is often very poor.

Gallbladder cancer is difficult to diagnose because it often causes no specific signs or symptoms. Also, the relatively hidden nature of the gallbladder makes it easier for gallbladder cancer to grow without being detected.

Gallbladder cancer

Gallbladder cancer is an abnormal growth of cells that begins in the gallbladder.

Your gallbladder is a small, pear-shaped organ on the right side of your abdomen, just beneath your liver. The gallbladder stores bile, a digestive fluid produced by your liver.

Gallbladder cancer is uncommon. When gallbladder cancer is discovered at its earliest stages, the chance for a cure is very good. But most gallbladder cancers are discovered at a late stage, when the prognosis is often very poor.

Gallbladder cancer may not be discovered until it’s advanced because it often causes no specific signs or symptoms. Also, the relatively hidden nature of the gallbladder makes it easier for gallbladder cancer to grow without being detected.