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Congenital Stromal Corneal Dystrophy
Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal dystrophy. Only 4 families have been reported to have the disease by 2009. The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrils of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly. Genetics CSCD is associated with a mutation in the gene DCN that encodes the protein decorin, located at chromosome 12q22. The disorder is inherited in an autosomal dominant manner, which indicates that the defective gene responsible for a disorder is located on an autosome An autosome is any chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Stromal Dystrophy 2
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagnos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corneal Dystrophy
Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. Signs and symptoms Corneal dystrophy may not significantly affect vision in the early stages. However, it does require proper evaluation and treatment for restoration of optimal vision. Corneal dystrophies usually manifest themselves during the first or second decade but sometimes later. It appears as grayish white lines, circles, or clouding of the cornea. Corneal dystrophy can also have a crystalline appearance. There are over 20 corneal dystrophies that affect all parts of the cornea. These diseases share many traits: * They are usually inherited. * They affect the right and left eyes equally. * They are not caused by outside factors, such as injury or diet. * Most progress gradually. * Most usually begin in one of the five corneal layers and may later spread to nearby layers. * Most do not affect ot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet J Rare Dis
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. Orphanet was founded in France in 1997 by Inserm, the French National Institute of Health and Medical Research. The website is managed by a network of academic establishments from 40 countries, led by Inserm, and is a European Union Health Programme Joint Action. It contains content for both physicians and patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on its behalf by BioMed Central. , the site provides information on over 6,100 rare diseases and 5,400 genes. Available information Orphanet is an online database with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glaucoma
Glaucoma is a group of eye diseases that can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of sight" because the loss of vision usually occurs slowly over a long period of time. A major risk factor for glaucoma is increased pressure within the eye, known as Intraocular pressure, intraocular pressure (IOP). It is associated with old age, a family history of glaucoma, and certain medical conditions or the use of some medications. The word ''glaucoma'' comes from the Ancient Greek word (), meaning 'gleaming, blue-green, gray'. Of the different types of glaucoma, the most common are called open-angle glaucoma and closed-angle glaucoma. Inside the eye, a liquid called Aqueous humour, aqueous humor helps to maintain shape and provides nutrients. The aqueous humor normally drains through the trabecular meshwork. In open-angle glaucoma, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Decorin
Decorin is a protein that in humans is encoded by the ''DCN'' gene. Decorin is a proteoglycan that is on average 90 - 140 kilodaltons (kDa) in molecular weight. It belongs to the small leucine-rich proteoglycan (SLRP) family and consists of a protein core containing leucine repeats with a glycosaminoglycan (GAG) chain consisting of either chondroitin sulfate (CS) or dermatan sulfate (DS). Decorin is a small cellular or pericellular matrix proteoglycan and is closely related in structure to biglycan protein. Decorin and biglycan are thought to be the result of a gene duplication. This protein is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly. Naming Decorin's name is a derivative of both the fact that it "decorates" collagen type I, and that it interacts with the "d" and "e" bands of fibrils of this collagen. Function Decorin appears to influence fibrillogenesis, and also interacts with fibronectin, thrombospo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation. Normally, chromosomes are visible under a light microscope only during the metaphase of cell division, where all chromosomes are aligned in the center of the cell in their condensed form. Before this stage occurs, each chromosome is duplicated ( S phase), and the two copies are joined by a centromere—resulting in either an X-shaped structure if the centromere is located equatorially, or a two-armed structure if the centromere is located distally; the jo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 12
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cell (biology), cells. Chromosome 12 contains the Homeobox C gene cluster. Genes Number of genes The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (Consensus CDS Project, CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disorders Of Sclera And Cornea
Disorder may refer to randomness, a lack of intelligible pattern, or: Healthcare * Disorder (medicine), a functional abnormality or disturbance * Mental disorder or psychological disorder, a psychological pattern associated with distress or disability that occurs in a person and is not a part of normal development or culture: :* Anxiety disorder, different forms of abnormal and pathological fear and anxiety :* Attention-deficit hyperactivity disorder :* Autism spectrum disorder :* Conversion disorder, neurological symptoms such as numbness, blindness, paralysis, or fits, where no neurological explanation is possible :* Obsessive–compulsive disorder, an anxiety disorder characterized by repetitive behaviors aimed at reducing anxiety :* Obsessive–compulsive personality disorder, obsession with perfection, rules, and organization :* Personality disorder, an enduring pattern of inner experience and behavior that deviates markedly from the expectations of the culture of the person ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
