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Topic Review
ATP6V1B1 Gene
ATPase H+ transporting V1 subunit B1
  • 911
  • 24 Dec 2020
Topic Review
Peroxisomal Acyl-CoA Oxidase Deficiency
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.
  • 911
  • 24 Dec 2020
Topic Review
Polycystic Kidney Disease
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
  • 911
  • 24 Dec 2020
Topic Review
Peters Anomaly
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment.
  • 910
  • 24 Dec 2020
Topic Review
Primary Carnitine Deficiency
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
  • 910
  • 24 Dec 2020
Topic Review
Hypochondroplasia
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
  • 909
  • 23 Dec 2020
Topic Review
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.
  • 909
  • 25 Dec 2020
Topic Review
PKLR Gene
pyruvate kinase L/R
  • 909
  • 25 Dec 2020
Topic Review
ABCC6 Gene
ATP binding cassette subfamily C member 6
  • 908
  • 24 Dec 2020
Topic Review
Drug Resistance of Colon Carcinoma
Drug resistance is one of the major forces driving a poor prognosis during the treatment and progression of human colon carcinomas. The molecular mechanisms that regulate the diverse processes underlying drug resistance are still under debate. MicroRNAs (miRNAs) are a subgroup of non-coding RNAs increasingly found to be associated with the regulation of tumorigenesis and drug resistance.
  • 908
  • 08 Sep 2021
Topic Review
Sotos Syndrome
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.
  • 907
  • 23 Dec 2020
Topic Review
KRT5 Gene
Keratin 5
  • 907
  • 23 Dec 2020
Topic Review
Kindler Syndrome
Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 907
  • 23 Dec 2020
Topic Review
Benign Recurrent Intrahepatic Cholestasis
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.
  • 907
  • 24 Dec 2020
Topic Review
Frasier Syndrome
Frasier syndrome is a condition that affects the kidneys and genitalia.
  • 907
  • 25 Dec 2020
Topic Review
Neurofibromatosis Type 1
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
  • 907
  • 20 Jan 2021
Topic Review
Pol III-Related Leukodystrophy
Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.
  • 906
  • 24 Dec 2020
Topic Review
Acute Necrotizing Encephalopathy Type 1
Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.
  • 906
  • 23 Dec 2020
Topic Review
SCN4A Gene
sodium voltage-gated channel alpha subunit 4
  • 905
  • 24 Dec 2020
Topic Review
CFI Gene
complement factor I
  • 905
  • 24 Dec 2020
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