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Denys–Drash Syndrome
Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor. Signs and symptoms Clinically, Denys–Drash is characterized by the triad of pseudohermaphroditism, mesangial renal sclerosis, and Wilms' tumor. The condition first manifests as early nephrotic syndrome and progresses to mesangial renal sclerosis, and ultimately kidney failure—usually within the first three years of life. The presenting characteristics of DDS include loss of playfulness, decreased appetite, weight loss, growth delay, abnormal skeletal development, insomnia, abdominal pain, constipation, and anuria. Causes The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene). These abnormalities include changes in certain exons (9 and 8) and mutations in some alleles of the WT1 gene. Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, whic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anuria
Anuria is nonpassage of urine, in practice is defined as passage of less than 100Harrison's Principles of Internal Medicine, 19E PAGE 292 milliliters of urine in a day. Anuria is often caused by failure in the function of kidneys. It may also occur because of some severe obstruction like kidney stones or tumours. It may occur with end stage kidney disease. It is a more extreme reduction than oliguria (hypouresis), with 100 mL/day being the conventional (albeit slightly arbitrary) cutoff point between the two. Signs and symptoms Anuria itself is a symptom, not a disease. It is often associated with other symptoms of kidney failure, such as lack of appetite, weakness, nausea and vomiting. These are mostly the result of buildup of toxins in the blood which would normally be removed by healthy kidneys. Causes Failure of kidney function, which can have multiple causes including medications or toxins (e.g., antifreeze, cephalosporins, ACEIs); diabetes; high blood pressure. Stones or t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Kidneys
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...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, 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] |
Transcription Factor Deficiencies
Transcription refers to the process of converting sounds (voice, music etc.) into letters or musical notes, or producing a copy of something in another medium, including: Genetics * Transcription (biology), the copying of DNA into RNA, the first step in gene expression ** Bacterial transcription, the generation of RNA transcripts of the genetic material in prokaryotes ** Eukaryotic transcription, the process of copying the genetic information stored in DNA into RNA in eukaryotes ** ''Transcription'' (journal), an academic journal about genetics ** Transcription factor, a protein that controls the rate of transcription of genetic information from DNA to messenger RNA Music * Transcription (music), notating, converting musical sound into visual musical notes (for any purpose) ** Piano transcription, a common type of music transcription * Transcription disc, a sound recording made during broadcasting for internal use by the broadcasting organization Speech transcription The pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WAGR Syndrome
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and mental Retardation. The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies can include tumours of the gonads (testes or ovaries). Some WAGR syndrome patients show severe childhood obesity and hyperphagia; the acronym WAGRO (O for obesity) has been used to describe this category and may be associated with the coinciding loss of BDNF a gene that is also on chromosome 11. The condition, first described by Miller et al. in 1964 in its association with other congenital malformations, results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beckwith–Wiedemann Syndrome
Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) * Macroglossia * Hemihyperplasia (asymmetric overgrowth of one or more regions of the body) * Omphalocele (also called exomphalos) or umbilical hernia * Embryonal tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma) in childhood * Visceromegaly involving one or more intra-abdominal organs including liver, spleen, kidneys, adrenal glands, and/or pancreas * Cytomegaly of the fetal adrenal cortex (pathognomonic) * Renal abnormalities including structural abnormalities, nephromegaly, nephrocalcinosis, and/or later development of medullary sponge kidney * Anterior linear ear lobe creases and/or posterior helical ear pits * Placental mesenchymal dysplasia * Cleft palate (rare in BWS) * Cardiomyopathy (rare in BWS) * Positive family history (≥1 family m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allan L
Allan may refer to: People * Allan (name), a given name and surname, including list of people and characters with this name * Allan (footballer, born 1984) (Allan Barreto da Silva), Brazilian football striker * Allan (footballer, born 1989) (Allan dos Santos Natividade), Brazilian football forward * Allan (footballer, born 1991) (Allan Marques Loureiro), Brazilian football midfielder * Allan (footballer, born 1994) (Allan Christian de Almeida), Brazilian football midfielder * Allan (footballer, born 1997) (Allan Rodrigues de Souza), Brazilian football midfielder Places * Allan, Queensland, Australia * Allan, Saskatchewan, Canada * Allan, the Allaine river's lower course, in France * Allan, Drôme, town in France * Allan, Iran (other), places in Iran Other uses * Allan, a Clan Grant split (or sept) * Ahlawat or Allan, an ethnic clan in India * ''Allan'', a 1966 film directed by Donald Shebib * "Allan" (song), a 1988 song recorded by the French artist Mylè ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 11
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome. Gene Number of genes The following are some of the gene count estimates of human chromosome 11. 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 ( CCDS) takes an extremely ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence in RNA transcripts. In RNA splicing, introns are removed and exons are covalently joined to one another as part of generating the mature RNA. Just as the entire set of genes for a species constitutes the genome, the entire set of exons constitutes the exome. History The term ''exon'' derives from the expressed region and was coined by American biochemist Walter Gilbert in 1978: "The notion of the cistron… must be replaced by that of a transcription unit containing regions which will be lost from the mature messengerwhich I suggest we call introns (for intragenic regions)alternating with regions which will be expressedexons." This definition was originally made for protein-coding transcripts that are spliced before being translated. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day. Constipation has many causes. Common causes include slow movement of stool within the colon, irritable bowel syndrome, and pelvic floor disorders. Underlying associated diseases include hypothyroidism, diabetes, Parkinson's disease, celiac disease, non-celiac gluten sensitivity, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation include opioids, certain antacids, calcium channel blockers, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonadal Dysgenesis
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the atypical development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics. Gonadal development is a genetically controlled process by the chromosomal sex ( XX or XY) which directs the formation of the gonad (ovary or testis). Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes. This results in the appropriate phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). Gon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
