ワース症候群
WordNet
- having a specified value; "not worth his salt"; "worth her weight in gold"
- an indefinite quantity of something having a specified value; "10 dollars worth of gasoline"
- the quality that renders something desirable or valuable or useful
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- French couturier (born in England) regarded as the founder of Parisian haute couture; noted for introducing the bustle (1825-1895) (同)Charles Frederick Worth
PrepTutorEJDIC
- (…するだけの)『価値がある』,(するに)値する《+名(doing)》 / (…の)『値打ちがある』,(…と)同じ価値の《+名》 / (…だけの)財産を持つ《+名》 / (人・物事の)『真価』,価値 / (金銭的な)『価値』,値打ち / (金額相当の)分量 / 富,財産
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/07/22 07:58:21」(JST)
[Wiki en表示]
Worth syndrome |
Classification and external resources |
OMIM |
144750 |
DiseasesDB |
32107 |
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease,[1][2] is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene.[3] It is characterized by increased bone density and benign bony structures on the palate.[1][3][4][5]
Cause and Genetics
Worth syndrome has an autosomal dominant pattern of inheritance.
Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4.[3][6] The disorder is inherited in an autosomal dominant fashion.[1] This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
History
The condition was first reported by H. M. Worth in 1966. In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. In 1987 a group of Spanish doctors pointed out that the condition may not be benign, and may sometimes cause nerve damage.[1]
References
- ^ a b c d Online 'Mendelian Inheritance in Man' (OMIM) 144750
- ^ DDB 32107
- ^ a b c Van Wesenbeeck L, Cleiren E, Gram J et al. (March 2003). "Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density" (FREE FULL TEXT). Am. J. Hum. Genet. 72 (3): 763–771. doi:10.1086/368277. PMC 1180253. PMID 12579474.
- ^ "Worth Syndrome". Retrieved September 12, 2010.
- ^ "Worth's Syndrome". Medcyclopedia. Archived from the original on 2012-02-05. Retrieved September 12, 2010.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 603506
Cell surface receptor deficiencies
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G protein-coupled receptor
(including hormone) |
Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
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Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
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Class C |
- CASR (Familial hypocalciuric hypercalcemia)
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Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
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Enzyme-linked receptor
(including
growth factor) |
RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
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STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
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GC |
- GUCY2D (Leber's congenital amaurosis 1)
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JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
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TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
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Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
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Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
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- See also
- cell surface receptors
Index of cells
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Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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UpToDate Contents
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English Journal
- Worth syndrome as a diagnosis for mandibular osteosclerosis.
- Payne K1, Dickenson A.
- Dento maxillo facial radiology.Dentomaxillofac Radiol.2011 Dec;40(8):531-3. doi: 10.1259/dmfr/71865631.
- This case report presents an unusual incidental radiographic finding on a dental panoramic radiograph that caused diagnostic confusion. A 46-year-old female presented with symmetrical sclerotic cortical thickening of the anterior mandible visible on radiograph, with no other major clinical examinati
- PMID 22065804
Japanese Journal
- Modeling Inherited Cardiac Disorders:– A Cell Is Worth a Thousand Genes –
- Sallam Karim,Kodo Kazuki,Wu Joseph C.
- Circulation Journal 78(4), 784-794, 2014
- … To date, iPSC-CMs have been used to successfully model arrhythmic disorders, showing excellent recapitulation of cardiac channel function and electrophysiologic features of long QT syndrome types 1, 2, 3, and 8, and catecholaminergic polymorphic ventricular tachycardia (CPVT). … In addition, iPSC-CMs have shown some features of the respective phenotypes for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), LEOPARD syndrome, Pompe's disease, and Friedriech's ataxia. …
- NAID 130003391060
- Stevens-Johnson症候群および中毒性表皮壊死症の発症機序とアフェレシス(<特集>皮膚難病とアフェレシス)
- 阿部 理一郎
- 日本アフェレシス学会雑誌 32(2), 121-123, 2013-05-31
- … Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) is considered part of a spectrum of adverse cutaneous drug reactions showing severe and extensive skin detachment. … In addition to high doses of corticosteroid and intravenous immunoglobulins, apheresis is applied to SJS/TEN patients with worth while results. …
- NAID 110009611597
- 呼吸器心身症の種類と心身相関の考え方 : 本邦における最近の知見(<特集>呼吸器領域における心身症研究と診療の動向)
- 江花 昭一
- 心身医学 53(2), 113-119, 2013-02-01
- 呼吸器心身症は「呼吸器系疾患が存在し,その中で発症や経過に心理社会的因子が密接に関与している病態にあるもの」と定義される.この分野での本邦における近年の研究を検討したところ,気管支喘息,過換気症候群のほか,慢性閉塞性肺疾患,慢性呼吸不全,睡眠時無呼吸症候群,肺癌などについての研究が行われていた.このうち気管支喘息では,心身医学的アプローチが内科的治療よりもよく喘息症状を改善するという報告,DSM- …
- NAID 110009578584
Related Links
- Worth syndrome: Introduction Worth syndrome: A rare genetic disorder characterized by benign bony areas on the palate and thickening of various long bones. More detailed information about the symptoms, causes, and treatments of ...
- ... Worth syndrome Number of items displayed: Feed name: Recent Activity Clear Turn Off Turn On Worth syndrome (0) PubMed Health Your browsing activity is empty. Activity recording is turned off. Turn recording back on | ...
Related Pictures
★リンクテーブル★
[★]
値する、価値ある、価値
- 関
- account、deserve、meritorious、valuable、value、valued、worthwhile、worthy
[★]