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Topic Review
Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.
  • 777
  • 25 Dec 2020
Topic Review
Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 776
  • 23 Dec 2020
Topic Review
Klippel-Feil Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae).
  • 776
  • 23 Dec 2020
Topic Review
TFR2 Gene
Transferrin receptor 2: The TFR2 gene provides instructions for making a protein called transferrin receptor 2. 
  • 776
  • 25 Dec 2020
Topic Review
PLAGL1 Gene
PLAG1 like zinc finger 1
  • 776
  • 25 Dec 2020
Topic Review
Sperm DNA Oxidation
Sperm DNA Oxidation has destructive effects on sperm structures and functions, thus can result in male infertility. The particular composition of the sperm membrane, rich in polyunsaturated fatty acids, and the easy access of sperm DNA to oxidative damage due to sperm cell specific cytologic and metabolic features (no cytoplasm left and cells unable to mount stress responses) make it the cell type in metazoans most susceptible to oxidative damage. In particular, oxidative damage to the spermatozoa genome is an important issue and a cause of male infertility, usually associated with single- or double-strand paternal DNA breaks.
  • 776
  • 27 Jan 2021
Topic Review
Glycogen Storage Disease Type I
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
  • 775
  • 23 Dec 2020
Topic Review
IDH2 Gene
Isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
  • 775
  • 23 Dec 2020
Topic Review
Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.
  • 775
  • 23 Dec 2020
Topic Review
Imerslund-Gräsbeck Syndrome
Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin).
  • 775
  • 23 Dec 2020
Topic Review
8p11 Myeloproliferative Syndrome
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.
  • 775
  • 23 Dec 2020
Topic Review
SETBP1 Disorder
SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.
  • 775
  • 24 Dec 2020
Topic Review
FAT4 Gene
FAT atypical cadherin 4
  • 775
  • 25 Dec 2020
Topic Review
FZD2 Gene
Frizzled class receptor 2
  • 775
  • 25 Dec 2020
Topic Review
Thrombotic Thrombocytopenic Purpura
Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.
  • 774
  • 23 Dec 2020
Topic Review
Nearsightedness
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.
  • 774
  • 23 Dec 2020
Topic Review
Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  
  • 774
  • 25 Dec 2020
Topic Review
Genomics Biomarkers for Type 2 Diabetes
Type 2 diabetes (T2D) is a deficiency in how the body regulates glucose. Uncontrolled T2D will result in chronic high blood sugar levels, eventually resulting in T2D complications. These complications, such as kidney, eye, and nerve damage, are even harder to treat.
  • 774
  • 29 Mar 2022
Topic Review
Juvenile Paget Disease
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).
  • 773
  • 23 Dec 2020
Topic Review
Nephronophthisis
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
  • 773
  • 23 Dec 2020
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