The correlations between phenotype and genotype have not yet proven, but most mutations of the ABCA12 genes are though to be core that leads to HI disease. Mutations of the ABCA12 genes are thought to lead to major loss of this protein functions because it effect the folding of the beta and alpha sheets in order to become functional proteins that is essential for lipids transport across the cell membrane to the epidermis layer of the skin. One other disease that is also associated with mutations of ABCA12 gene is lamellar ichthyosis (LI). This disease is the less severe version of HI, due to lower incidents of mutation in the affected genes. The mutated ABCA12 in LI can still make functional proteins that somewhat help with lipids binding across the outer skin layer.
If the repeat CBC confirms low platelet counts, then further evaluation can begin. A comprehensive review of the other components of the CBC is one of the most important steps in the evaluation of low platelet count. The CBC can tell us whether other blood disorders may be present, such as, anemia (low red cell count or hemoglobin), erythrocytosis (high red blood cell count or hemoglobin), leukopenia (low white cells count), or leukocytosis (elevated white blood cell count). These abnormalities may suggest bone marrow problems as the potential
Fibrodysplasia ossificans progressiva is one of the rarest and most disabling disease known to mankind. The disease progression is caused when connective tissue such as; muscle, tendons, or ligaments are slowly replaced by bone. Eventually, the additional bone formation outside the skeleton will constrict movement and imprison the body. The literature on fibrodysplasia ossificans progressiva is sparse, which could account for the extremely high rate of misdiagnoses of the disorder. An important implication of diagnosing the disorder are understanding the key characteristics at birth as well as recognizing the body swellings are not classified as tumors.
Gallstones are hardened deposit of digestive fluid that can form in your gallbladder, which is a small pear-shaped organ on the right side below the liver. Gallstones usually are as little as small grain of sand and as large as a golf ball. Typically there are no symptoms for gallstones unless they block the duct. This will cause sudden and rapid intensifying pain on the right portion of the abdomen as well as the center of the abdomen just below your breastbone. You may also experience back pain in the shoulder blades and or pain in your right shoulder as well as nausea or vomiting.
Anabolic-androgenic steroids can cause a condition called proteinuria, in which abnormally high levels of protein are excreted in the urine. Proteinuria is directly related to a decrease in kidney function (Schieszer, 2010). In addition to these side effects, anabolic-androgenic steroids may hindering the immune system, putting abusers at risk for infections. Injection of anabolic-androgen steroids also put people at risk of contracting hepatitis and HIV (Kersey et al.,
Creutzfeldt-Jakob’s Disease: Neuromuscular Disease Creutzfeldt-Jakob’s Disease (CJD) is a rare, degenerative, invariably fatal brain disorder, which is derived from transmissible spongiform encephalopathy caused by prions. Prions occur in a normal state, which are harmless proteins found in the body’s cells, and also in an infectious form that causes disease. Harmless forms of prion proteins have the same sequence of amino acids, but the infectious forms of protein have a different folded shape than normal proteins. Once the abnormal protein prion appears they aggregate together, giving the brain a spongy appearance, characterized by tiny holes. These infectious particles are mainly found on the surface of cells in the central nervous system.
(Genetics Home Reference, 2012). Signs and symptoms of haemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding. Haemophilia is very hard to identify if someone is a carrier, the genetic disease will remain dormant until it is passed onto the offspring.
Phenylketonuria is a genetic disorder in which a person’s body does not contain the enzyme that is necessary to break down an important amino acid found in protein called phenylalanine. As a result, some of the symptoms of this disease include the following: fair skin and hair due to lack of melanin synthases, dry skin patches or Eczema, light sensitivity, and hair loss. Some of the more serious symptoms of PKU are intellectual disabilities, 50% increase in epilepsy, and eye abnormalities. PKU is a disease that if treated early on, the diseases symptoms can be less serious. However if
Wilson Disease is a genetic condition that causes a person’s body to store too much of the mineral copper. The short and most common name of this genetic condition is called “Wilson Diesease”, but other names such as “Copper Storage Disease” or “Hepatolenticular Degeneration Syndrome” occur when being very precise. Many people do not contract this disease as it only occurs in every one out of every thirty thousand people. This disease is not directly correlated with death, however if too much copper is built up in your organs the effects of it may cause death. To begin with, Wilson Disease may affect several different parts of the body, as well as different organs throughout.
Due to the sickling of the cells blood vessels may be blocked which causes the hands and/or feet to painfully swell. Swelling only occurs on the back of the hands and feet and moves into the finger and toes. This may be the first sign of sickle cell in infants. The spleen helps filter out abnormal red blood cells and helps fight infections. At times the spleen traps many cells that should be in the bloodstream and it grows large.
(4. Medline Plus. (U.S. National Library of Medicine). (2013): Squamous Cell Carcinoma). Though an individual might see an abnormal growth on the skin, the individual should follow-up with a check up to a dermatologist to determine what can happen from
Neimann Pick Disease Type C1 What is Neimann Pick Disease Type C1 and how is it Diagnosed? Neimann Pick Disease Type C1(NPC1) is a rare lipid shortage disorder that can be diagnosed at any point in the individual’s life time(2). It can be passed on recessively from the parent to their offspring. For further evaluation genetic tests can be done on a patient to seek the NPC1 gene that causes the mutation resulting in the lack of cholesterols levels(2). Some of the tests that can be performed are liver and spleen biopsies and cholesterol assay (3).
These tumors are constantly growing and most are inaccessible to surgical removal. NF could also cause malignant and bone abnormalities, vascular abnormalities, and pain. Neurofibromas are the most common benign tumor of NF and usually grow on or just under the skin. Sometimes these tumors can occur in deeper areas of the body. Studying NF1 is difficult in 60 % of all cases because of learning disabilities caused by the disorder (Kalamarides et al, 2011).