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PIK3CA-related Overgrowth Spectrum (PROS)
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in PIK3CA gene. In PROS diseases individuals malformations are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue depending on the specific disease. __TOC__ PROS spectrum diseases PROS spectrum diseases include: * Fibro-adipose vascular anomaly * Hemihyperplasia–multiple lipomatosis syndrome * CLOVES syndrome * Macrodactyly * Facial infiltrating lipomatosis * Macrocephaly-capillary malformation * Dysplastic megalencephaly * Klippel–Trénaunay syndrome Pathophysiology PIK3CA gene codes for p110α protein which is a catalytic subunit of phosphoinositide 3-kinase, a major regulator of several important cellular functions such as cell proliferation, growth and apoptosis. Mutations in PIK3CA cause over-activity of PI3K which in turn leads to altered growth of cells and tissues which is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Umbrella Term
In linguistics, semantics, general semantics, and ontologies, hyponymy () is a semantic relation between a hyponym denoting a subtype and a hypernym or hyperonym (sometimes called umbrella term or blanket term) denoting a supertype. In other words, the semantic field of the hyponym is included within that of the hypernym. In simpler terms, a hyponym is in a ''type-of'' relationship with its hypernym. For example, ''pigeon'', ''crow'', ''eagle'', and ''seagull'' are all hyponyms of ''bird'', their hypernym, which itself is a hyponym of ''animal'', its hypernym. Hyponyms and hypernyms Hyponymy shows the relationship between a generic term (hypernym) and a specific instance of it (hyponym). A hyponym is a word or phrase whose semantic field is more specific than its hypernym. The semantic field of a hypernym, also known as a superordinate, is broader than that of a hyponym. An approach to the relationship between hyponyms and hypernyms is to view a hypernym as consisting of hypo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Somatic Mutation
A somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic mutations are not usually transmitted to descendants. This distinction is blurred in plants, which lack a dedicated germline, and in those animals that can reproduce asexually through mechanisms such as budding, as in members of the cnidarian genus ''Hydra''. While somatic mutations are not passed down to an organism's offspring, somatic mutations will be present in all descendants of a cell within the same organism. Many cancers are the result of accumulated somatic mutations. Fraction of cells affected The term somatic generally refers to the cells of the body, in contrast to the reproductive (germline) cells, which give rise to the egg or sperm. For example, in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
P110α
The phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (the HUGO-approved official symbol = PIK3CA; HGNC ID, HGNC:8975), also called p110α protein, is a class I PI 3-kinase catalytic subunit. The human p110α protein is encoded by the ''PIK3CA'' gene. Its role was uncovered by molecular pathological epidemiology (MPE). Function Phosphatidylinositol-4,5-bisphosphate 3-kinase (also called phosphatidylinositol 3-kinase (PI3K)) is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate phosphatidylinositols (PtdIns), PtdIns4P and PtdIns(4,5)P2. The involvement of p110α in human cancer has been hypothesized since 1995. Support for this hypothesis came from genetic and functional studies, including the discovery of common activating PIK3CA missense mutations in common human tumors. It has been found to be oncogenic and is implicated in cervi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibro-adipose Vascular Anomaly
Fibro-adipose vascular anomaly, also known as FAVA, is a type of vascular anomaly that is both rare and painful. FAVA is characterized by tough fibrofatty tissue taking over portions of muscle, most often contained within a single limb. FAVA also causes venous and/or lymphatic abnormalities. Though FAVA has only been recognized as a distinct vascular anomaly, separate from common venous malformations, within the past ten years, FAVA a distinct congenital disorder. Signs and symptoms Common symptoms of FAVA include severe pain and difficulty moving the affected limb, mild enlargement of the affected limb with visible veins, and contracture. In the cohort described by Alomari et al. from the Vascular Anomalies Center at Boston Children's Hospital, FAVA was located, in descending order, in the calf, forearm/wrist and thigh. The most common presentation is severe pain. Calf lesions, particularly those located in the posterior compartment, are commonly associated with restricted ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemihyperplasia–multiple Lipomatosis Syndrome
Hemihyperplasia–multiple lipomatosis syndrome is a cutaneous condition characterized by multiple lipomas in association with asymmetric (but non-progressive and non-distorting) overgrowth, cutaneous capillary malformations, and thickened plantar skin with prominent creases. See also * Involutional lipoatrophy * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ... References Conditions of the subcutaneous fat Syndromes {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLOVES Syndrome
CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the ''PIK3CA'' gene, and belongs to the spectrum of ''PIK3CA''-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. French doctor Guillaume Canaud published an article iNaturethat demonstrate the efficacy of BYL719 (From cancer), an inhibitor of PIK3CA, in preventing and improving organ dysfunction. It seems this treatment is having tremendous and quick effects. CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few. 'CLOVES' is an acronym for: * C is for congenital. * L is fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrodactyly
Local gigantism or localised gigantism is a condition in which a certain part of the body acquires larger than normal size due to excessive growth of the anatomical structures or abnormal accumulation of substances. It is more common in fingers and toes, where it is termed macrodactyly. However, sometimes an entire limb may be enlarged. Causes Local gigantism may be caused by a heterogeneous group of both congenital and acquired conditions. Congenital Congenital causes include: *Klippel–Trénaunay syndrome *Maffucci syndrome *macrodystrophia lipomatosa *neurofibromatosis, *lipoatrophic diabetes. *Proteus syndrome, which by one theory accounts for the deformities of the Elephant Man Acquired There are a number of acquired causes of local gigantism. A body part can attain bigger size from causes as common as the following: *inflammation, due to trauma or infection *tumors like osteoid osteoma, melorheostosis, and lipofibromatous hamartoma *Arteriovenous malformations occurring ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facial Infiltrating Lipomatosis
Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the face or facial infused lipomatosis, is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene. The condition is a part of the PIK3CA related overgrowth spectrum (PROS). The disease is congenital and non-hereditary. First described by Slavin and colleagues in 1983. For this disease the mutation causes overgrowth of half of the face (hemifacial). It affects both soft and hard tissue (facial skeleton). The condition is noticeable at birth by the asymmetrical cheeks, with one cheek being prominently larger than the other. Signs & symptoms Congenital hemifacial enlargement in which mature lipocytes invade adjacent tissue. Phenotypic features include soft-tissue and skeletal hypertrophy and regional macrodontia. The manifestations are variable ranging from mild to severe. The overgrowth is typically present at birth. The most common feature ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrocephaly-capillary Malformation
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone. Genetics Mosaic mutations in PIK3CA have been found to be the genetic cause of M-CM. Other overgrowth conditions with distinct phenotypes have also been found to be caused by mosaic mutations in PIK3CA. How different mutations in this gene result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klippel–Trénaunay Syndrome
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinctly separate from, the less common Parkes Weber syndrome. The classical triad of Klippel–Trenaunay syndrome consists of: # vascular malformations of the capillary, venous and lymphatic vessels; # varicosities of unusual distribution, particularly the lateral venous anomaly; and # unilateral soft and skeletal tissue hypertrophy, usually the lower extremity. Signs and symptoms The birth defect is diagnosed by the presence of a combination of these symptoms (often on approximately of the body, though some cases may present more or less affected ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phosphoinositide 3-kinase
Phosphoinositide 3-kinases (PI3Ks), also called phosphatidylinositol 3-kinases, are a family of enzymes involved in cellular functions such as cell growth, proliferation, differentiation, motility, survival and intracellular trafficking, which in turn are involved in cancer. PI3Ks are a family of related intracellular signal transducer enzymes capable of phosphorylating the 3 position hydroxyl group of the inositol ring of phosphatidylinositol (PtdIns). The pathway, with oncogene PIK3CA and tumor suppressor gene PTEN, is implicated in the sensitivity of cancer tumors to insulin and IGF1, and in calorie restriction. Discovery The discovery of PI3Ks by Lewis Cantley and colleagues began with their identification of a previously unknown phosphoinositide kinase associated with the polyoma middle T protein. They observed unique substrate specificity and chromatographic properties of the products of the lipid kinase, leading to the discovery that this phosphoinositide kinase ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerotherapy
Sclerotherapy (the word reflects the Greek ''skleros'', meaning ''hard'') is a procedure used to treat blood vessel malformations (vascular malformations) and also malformations of the lymphatic system. A medicine is injected into the vessels, which makes them shrink. It is used for children and young adults with vascular or lymphatic malformations. In adults, sclerotherapy is often used to treat spider veins, smaller varicose veins, hemorrhoids,William R. Finkelmeier, Sclerotherapy, Ch. 12, ACS Surgery: Principles & Practice, 2004, WebMD (hardcover book) and hydroceles.Darren T Beiko, Aspiration and Sclerotherapy versus hydrocelectomy for treatment of hydroceles, Urology Vol 61, Issue 4 (Apr 2003) Sclerotherapy is one method (along with surgery, radiofrequency, and laser ablation) for the treatment of spider veins, occasionally varicose veins, and venous malformations. In ultrasound-guided sclerotherapy, ultrasound is used to visualize the underlying vein so the physician can de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
