Diseases

Krabbe disease- atypical- due to Saposin A deficiency

Krabbe disease, atypical, due to saposin A deficiency: An inherited biochemical disorder which results in neurological regression within a few months of birth. Death usually occurs during the first few years of life. The disorder is similar to Krabbe disease but is differentiated by the genetic origin of the biochemical defect. Krabbe disease involves a defect in the galactocerebrosidase gene whereas atypical Krabbe disease involves a defect in the prosaposin gene which causes a deficiency of saposin A. Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy.

Krasnow Qazi syndrome

Main name of condition: Cardiomyopathy cataract hip spine disease Other names or spellings for Cardiomyopathy cataract hip spine disease: Krasnow-Qazi syndrome, Familial dilated cardiomyopathy associated with cataracts and hip-spine disease, Krasnow Qazi Yermakov syndrome Cardiomyopathy cataract hip spine disease: A rare genetic disorder characterized by heart muscle disease, cataracts and hip and spinal problems.

Krause-Kivlin syndrome

Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.

Krauss Herman Holmes syndrome

Krauss Herman Holmes syndrome: Another name for Carpal deformity - micrognathia - microstomia (or close medical condition association). Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.

Krieble Bixler syndrome

Krieble Bixler syndrome: A rare inherited syndrome characterized by blepharphimosis and various congenital anomalies involving the limbs, heart, ear and face.

Krukenberg carcinoma

Krukenberg carcinoma: However, when stomach cancer spreads to an ovary, the tumor in the ovary is called a Krukenberg tumor . Krukenberg carcinoma: A form of ovarian cancer.

Kurczynski Casperson syndrome

Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.

Kuskokwim disease

Kuskokwim disease: A rare syndrome where abnormal muscle attachment causes abnormalities such as muscle wasting or excessive growth and contractures.

Kuster Majewski Hammerstein syndrome

Kuster-Majewski-Hammerstein syndrome: A very rare disorder characterized mainly by alopecia, retarded growth and eye problems . The loss of scalp hair is repetitive and the eye problem involves ring-shaped degeneration of the retinal pigmentary layer.

Kuster syndrome

Kuster syndrome: A very rare congenital disorder characterized by a cleft lip, cleft palate, lip pits, and deformed limbs.

Kyasanur Forrest disease

Kyasanur-Forrest disease: A viral hemorrhagic fever that is transmitted to humans through tick bites. It is most prevalent in South Asia.

Kyphomelic dysplasia

Kyphomelic dysplasia (medical condition): A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones. Kyphomelic dysplasia: Another name for Bowing, congenital, short bones (or close medical condition association). Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.

Kyphosis brachyphalangy optic atrophy

Kyphosis brachyphalangy optic atrophy (medical condition): A rare condition characterized by eye and skeletal problems Kyphosis brachyphalangy optic atrophy: Another name for Berk-Tabatznik syndrome (or close medical condition association). Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.

Kyrle disease

Kyrle disease: A skin disorder often associated with diabetes mellitus or kidney failure.

L-arginine:glycine amidinotransferase (AGAT) deficiency

L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.

Labrador lung

Labrador lung: A lung disease caused by breathing in dust containing silica and other inorganic compounds such as iron. The dusts deposit in the lungs where it can cause problems which may not become evident for many years. It is often seen in long-term miners.

Labyrinthitis syndrome

Alternative Names: Bacterial labyrinthitis; Serous labyrinthitis; Neuronitis - vestibular; Vestibular neuronitis; Viral neurolabyrinthitis; Vestibular neuritis Labyrinthitis is an ear disorder that involves irritation and swelling of the inner ear.

Lachiewicz Sibley syndrome

Lachiewicz-Sibley syndrome: A very rare syndrome characterized mainly by pits in front of the ears and kidney disease.

Lactate dehydrogenase deficiency

Lactate dehydrogenase deficiency: An inherited genetic muscle disease where an enzyme deficiency (lactate dehydrogenase) affects the normal processes that convert carbohydrates from food into energy which affects muscles. Lactate dehydrogenase facilitates the conversion of lactate to pyruvate and vice versa.

Lactate dehydrogenase deficiency type A

Lactate dehydrogenase deficiency type A: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type A) affects the conversion of carbohydrates to energy.

Lactate dehydrogenase deficiency type B

Lactate dehydrogenase deficiency type B: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type B) affects the conversion of carbohydrates to energy. The condition is generally asymptomatic.

Lactate dehydrogenase deficiency type C

Lactate dehydrogenase deficiency type C: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type C) affects the conversion of carbohydrates to energy. The type C enzyme is specific to sperm and the condition is generally asymptomatic.

Lactic acidosis congenital infantile

Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.

Ladda Zonana Ramer syndrome

Ladda Zonana Ramer syndrome (medical condition): A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation. Ladda Zonana Ramer syndrome: Another name for Contractures - ectodermal dysplasia - cleft lip palate (or close medical condition association). Contractures - ectodermal dysplasia - cleft lip palate: A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.

Lafora disease

Lafora disease, is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells of the heart, liver, muscle, and skin. In a later study, Lafora disease has been and is now viewed as a neurodegenerative disease, since prior to the actual formation of Lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons. It was further concluded that Lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder

Lagophthalmia cleft lip palate

Lagophthalmia and bilateral cleft lip and palate (medical condition): A very rare disorder characterized mainly by a cleft lip and palate and incomplete closure of the eyelids. Lagophthalmia and bilateral cleft lip and palate: Another name for Korula-Wilson-Salomonson syndrome (or close medical condition association). Korula-Wilson-Salomonson syndrome: A very rare disorder characterized mainly by a cleft lip and palate and incomplete closure of the eyelids.

Lambdoid synostosis

Lambdoid synostosis familial: Premature fusion of certain skull bones that results in the back of the head being flat. In familial cases, it tends to run in families and other abnormalities are occasionally associated.

Lambert-Eaton Myasthenic Syndrome

Lambert Eaton myasthenic syndrome is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer.