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Corneal-cerebellar Syndrome
Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally recessive disease that was first described in 1985. Three cases are known: all are sisters in the same family. Symptoms and signs The age of onset is in a child's infancy. Bilateral corneal opacification started in the second year of life and led to severe visual impairment. However, cornea surgery and replacement resulted in better vision. Symptoms include a combination of spinocerebellar degeneration and corneal dystrophy. Mental retardation and slowly progressive cerebellar abnormalities were also diagnosed in patients. Other symptoms include corneal edema, thickening of Descemet membrane, and degenerative pannus. Abnormalities were found in muscle and sural nerves. Cause Diagnosis Differential diagnosis It was concluded by Mousa-Al et al. that the disease is different from a disease known as spastic ataxia-corneal dystrophy syndrome that had been found a year later i ... [...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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inbred
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious or recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely. Inbreeding results in homozygosity, which can increase the chances of offspring being affected by recessive traits. In extreme cases, this usually leads to at least temporarily decreased biological fitness of a population (called inbreeding depression), which is its ability to survive and reproduce. An individual who inherits such deleterious traits is colloquially referred to as ''inbred''. The avoidance of expression of such deleterious recessive alleles caused by inbreeding, via inbreeding avoidance mechanisms, is the main selective reason for outcrossin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
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 of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome 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 chromosome e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic 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. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stromal
Stromal cells, or mesenchymal stromal cells, are differentiating cells found in abundance within bone marrow but can also be seen all around the body. Stromal cells can become connective tissue cells of any organ, for example in the uterine mucosa (endometrium), prostate, bone marrow, lymph node and the ovary. They are cells that support the function of the parenchymal cells of that organ. The most common stromal cells include fibroblasts and pericytes. The term ''stromal'' comes from Latin , "bed covering", and Ancient Greek , , "bed". Stromal cells are an important part of the body's immune response and modulate inflammation through multiple pathways. They also aid in differentiation of hematopoietic cells and forming necessary blood elements. The interaction between stromal cells and tumor cells is known to play a major role in cancer growth and progression. In addition, by regulating local cytokine networks (e.g. M-CSF, LIF), bone marrow stromal cells have been described to be i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epithelian
Epithelium or epithelial tissue is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. It is a thin, continuous, protective layer of compactly packed cells with a little intercellular matrix. Epithelial tissues line the outer surfaces of organs and blood vessels throughout the body, as well as the inner surfaces of cavities in many internal organs. An example is the epidermis, the outermost layer of the skin. There are three principal shapes of epithelial cell: squamous (scaly), columnar, and cuboidal. These can be arranged in a singular layer of cells as simple epithelium, either squamous, columnar, or cuboidal, or in layers of two or more cells deep as stratified (layered), or ''compound'', either squamous, columnar or cuboidal. In some tissues, a layer of columnar cells may appear to be stratified due to the placement of the nuclei. This sort of tissue is called pseudostratified. All glands are made up of epith ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bedouin
The Bedouin, Beduin, or Bedu (; , singular ) are nomadic Arab tribes who have historically inhabited the desert regions in the Arabian Peninsula, North Africa, the Levant, and Mesopotamia. The Bedouin originated in the Syrian Desert and Arabian Desert but spread across the rest of the Arab world in West Asia and North Africa after the spread of Islam. The English word ''bedouin'' comes from the Arabic ''badawī'', which means "desert dweller", and is traditionally contrasted with ''ḥāḍir'', the term for sedentary people. Bedouin territory stretches from the vast deserts of North Africa to the rocky sands of the Middle East. They are traditionally divided into tribes, or clans (known in Arabic as ''ʿašāʾir''; or ''qabāʾil'' ), and historically share a common culture of herding camels and goats. The vast majority of Bedouins adhere to Islam, although there are some fewer numbers of Christian Bedouins present in the Fertile Crescent. Bedouins have been referred ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spastic Ataxia-corneal Dystrophy Syndrome
Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome) is an autosomally resessive disease. It has been found in an inbred Bedouin family. It was first described in 1986. A member of the family who was first diagnosed with this disease also had Bartter syndrome. It was concluded by its first descriptors Mousa-Al et al. that the disease is different from a disease known as corneal-cerebellar syndrome that had been found in 1985. Symptoms include spastic ataxia, cataracts, macular corneal dystrophy and nonaxial myopia. Mental development is normal. See also * Rare disease A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discov ... References Further reading * * External links Autosomal recessive disorders Rare diseases Syndromes {{Gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration 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 of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pannus
Pannus is an abnormal layer of fibrovascular tissue or granulation tissue. Common sites for pannus formation include over the cornea, over a joint surface (as seen in rheumatoid arthritis), or on a prosthetic heart valve. Pannus may grow in a tumor-like fashion, as in joints where it may erode articular cartilage and bone. In common usage, the term ''pannus'' is often used to refer to a panniculus (a hanging flap of tissue). Pannus in rheumatoid arthritis The term "pannus" is derived from the Latin for "tablecloth". Inflammation and exuberant proliferation of the synovium leads to formation of pannus and destruction of cartilage, bone, tendons, ligaments, and blood vessels. Basically, the hypertrophied synovium is called pannus. Pannus tissue is composed of aggressive macrophage- and fibroblast-like mesenchymal cells, macrophage-like cells and other inflammatory cells that release collagenolytic enzymes. In people suffering from rheumatoid arthritis, pannus tissue eventually ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
