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Genetics Of GnRH Deficiency Conditions
To date, at least 25 different genes have been implicated in causing gonadotropin-releasing hormone (GnRH) deficiency conditions such as Kallmann syndrome (KS) or other forms of congenital hypogonadotropic hypogonadism (CHH) through a disruption in the production or activity of GnRH. These genes involved cover all forms of inheritance, and no one gene defect has been shown to be common to all cases, which makes genetic testing and inheritance prediction difficult. The number of genes known to cause cases of KS/CHH is still increasing. In addition, it is thought that some cases of KS/CHH are caused by two separate gene defects occurring at the same time. __TOC__ Genes A table of known genes responsible for cases of GnRH deficiency conditions is shown below. Listed are the estimated prevalence of cases caused by the specific gene, additional associated symptoms and the form of inheritance. Between 35 and 45% of cases of KS/CHH have an unknown genetic cause. See also * Kallmann syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Genetic And Molecular Basis Of Idiopathic Hypogonadotropic Hypogonadism
''The'' () is a grammatical article in English, denoting persons or things that are already or about to be mentioned, under discussion, implied or otherwise presumed familiar to listeners, readers, or speakers. It is the definite article in English. ''The'' is the most frequently used word in the English language; studies and analyses of texts have found it to account for seven percent of all printed English-language words. It is derived from gendered articles in Old English which combined in Middle English and now has a single form used with nouns of any gender. The word can be used with both singular and plural nouns, and with a noun that starts with any letter. This is different from many other languages, which have different forms of the definite article for different genders or numbers. Pronunciation In most dialects, "the" is pronounced as (with the voiced dental fricative followed by a schwa) when followed by a consonant sound, and as (homophone of the archaic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Combined Pituitary Hormone Deficiency
Hypopituitarism is the decreased (''hypo'') secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. If there is decreased secretion of one specific pituitary hormone, the condition is known as selective hypopituitarism. If there is decreased secretion of most or all pituitary hormones, the term panhypopituitarism (''pan'' meaning "all") is used. The signs and symptoms of hypopituitarism vary, depending on which hormones are undersecreted and on the underlying cause of the abnormality. The diagnosis of hypopituitarism is made by blood tests, but often specific scans and other investigations are needed to find the underlying cause, such as tumors of the pituitary, and the ideal treatment. Most hormones controlled by the secretions of the pituitary can be replaced by tablets or injections. Hypopituitarism is a rare disease, but may be significantly underdiagnosed in people with previous traumatic brain injury. The first desc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Waardenburg Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or Heterochromia iridum, one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with Camptodactyly, permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the Cell division, division and Cell migration, migration of neural crest cells d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the ''SOX10'' gene. Function This gene encodes a member of the SOX gene family, SOX (Testis-determining factor, SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate determination, cell fate. The encoded protein acts as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. In melanocyte, melanocytic cells, there is evidence that SOX10 gene expression may be regulated by Microphthalmia-associated transcription factor, MITF. Mutations Mutations in this gene are associated with Waardenburg–Shah syndrome and uveal melanoma. Immunostain SOX10 is used as an immunohistochemistry marker, being positive in: Topic Completed: 1 February 2014. Revised: 20 September 2019 *Neuro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IL17RD
Interleukin 17 receptor D is a protein that in humans is encoded by the IL17RD gene. Function This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor Fibroblast growth factors (FGF) are a family of cell signalling proteins produced by macrophages; they are involved in a wide variety of processes, most notably as crucial elements for normal development in animal cells. Any irregularities in the ... signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. References Further reading * Genes Human proteins {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morning Glory Syndrome
The morning glory disc anomaly (MGDA) is a congenital deformity resulting from failure of the optic nerve to completely form in utero. The term was coined in 1970 by Kindler, noting a resemblance of the malformed optic nerve to the morning glory flower. The condition is usually unilateral. Presentation Complications Serous retinal detachment can occur in the affected eye. Associated conditions Although the finding itself is rare, MGDA can be associated with midline cranial defects and abnormal carotid circulation, such as carotid stenosis/aplasia or progressive vascular obstruction with collateralization (also known as moyamoya disease). The vascular defects may lead to ischemia, stroke, or seizures and so a finding of MGDA should be further investigated with radiographic imaging. Diagnosis On fundoscopic examination, there are three principal findings comprising the anomaly: #an enlarged, funnel-shaped excavation in optic disc #an annulus or ring of chorioretinal pigmentary cha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PROKR2
Prokineticin receptor 2 (PKR2), is a dimeric G protein-coupled receptor encoded by the PROKR2 gene in humans. Function Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. PKR2 is composed of 384 amino acids. Asparagine residues at position 7 and 27 undergo N-linked glycosylation. Cysteine residues at position 128 and 208 form a disulfide bond. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. PKR2 is also linked to mammalian circadian rhythm. Levels of PKR2 mRNA fluctuate in the suprachiasmatic nucleus, increasing during the day and decreasing at night. Mutations in the ''PROKR2'' (also known as ''KAL3'') gene have been implicated in hypogonadotropic hypogonadism and gynecomastia. Total loss of PKR2 in mice leads to spontaneous torp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHARGE Syndrome
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009, it was the leading cause of congenital deafblindness in the US. Genetics CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. Very few people with CHARGE will have 100% of its known features. In 2004, mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to |
Semicircular Canal
In mathematics (and more specifically geometry), a semicircle is a one-dimensional locus of points that forms half of a circle. The full arc of a semicircle always measures 180° (equivalently, radians, or a half-turn). It has only one line of symmetry (reflection symmetry). In non-technical usage, the term "semicircle" is sometimes used to refer to a half-disk, which is a two-dimensional geometric shape that also includes the diameter segment from one end of the arc to the other as well as all the interior points. By Thales' theorem, any triangle inscribed in a semicircle with a vertex at each of the endpoints of the semicircle and the third vertex elsewhere on the semicircle is a right triangle, with a right angle at the third vertex. All lines intersecting the semicircle perpendicularly are concurrent at the center of the circle containing the given semicircle. Uses A semicircle can be used to construct the arithmetic and geometric means of two lengths using straight-e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Hearing Loss
Congenital hearing loss is a hearing loss present at birth. It can include hereditary hearing loss or hearing loss due to other factors present either in-utero (prenatal) or at the time of birth. Genetic factors Genetic factors are thought to cause more than 50% of all incidents of congenital hearing loss. Genetic hearing loss may be autosomal dominant, autosomal recessive, or X-linked (related to the sex chromosome). Hearing loss Autosomal dominant hearing loss In autosomal dominant hearing loss, one parent who carries the dominant gene for hearing loss and typically has a hearing loss passes it on to the child. In this case there is at least a 50% probability that the child will also have a hearing loss. The probability is higher if both parents have the dominant gene (and typically both have a hearing loss) or if both grandparents on one side of the family have hearing loss due to genetic causes. Because at least one parent usually has a hearing loss, there is prior ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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