WordNet
- of or relating to a cortex
PrepTutorEJDIC
- 皮質から成る,皮質の,(特に)大脳皮質の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/19 07:18:38」(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
|
Genetic disorder, membrane: cell surface receptor deficiencies
|
|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Male-limited precocious puberty)
- FSHR (XX gonadal dysgenesis)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
|
| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
|
|
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)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
|
|
| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|
|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
|
| 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)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
|
| 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)
|
|
- See also
- cell surface receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.
- Sharma R1, Sierra Potchanant E1, Schwartz JE2, Nalepa G3,4,5.
- Pediatric blood & cancer.Pediatr Blood Cancer.2018 Jan;65(1). doi: 10.1002/pbc.26777. Epub 2017 Sep 4.
- PMID 28868793
- Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
- Hurd LM1, Thacker MM2, Okenfuss E3, Duker AL4, Lou Y5,6, Harty MP7, Conard K8, Lian JB5,9, Bober MB4.
- American journal of medical genetics. Part A.Am J Med Genet A.2017 Dec;173(12):3205-3210. doi: 10.1002/ajmg.a.38498. Epub 2017 Oct 28.
- PMID 29080333
- A nationwide cohort study of slipped capital femoral epiphysis.
- Perry DC1, Metcalfe D2, Costa ML2, Van Staa T3.
- Archives of disease in childhood.Arch Dis Child.2017 Dec;102(12):1132-1136. doi: 10.1136/archdischild-2016-312328. Epub 2017 Jun 29.
- PMID 28663349
Related Links
- Definition of hyperostosis corticalis generalisata in the Medical Dictionary. hyperostosis corticalis generalisata explanation. Information about hyperostosis corticalis generalisata in Free online English dictionary. What is forum ...
- Your Questions Answered by the Genetic and Rare Diseases Information Center Please contact us with your questions about Hyperostosis corticalis generalisata. We will answer your question and update these pages with ...
★リンクテーブル★
[★]
- 英
- Schwartz-Jampel syndrome
- 同
- シュワルツ症候群 Schwartz syndrome、筋強直性軟骨ジストロフィー myotonic chondrodystrophy
- 関
- 骨軟骨形成異常、多発性骨端異形成症、脊椎骨端異形成症、軟骨形成不全症、Schwartz-Jampel症候群、メルニック・ニードルズ症候群、全身性皮質性骨化過剰症
- dyschondroplasia、hyperostosis corticalis generalisata、Melnick-Needles syndrome、multiple epiphyseal dysplasia、osteochondrodysplasia、spondyloepiphyseal dysplasia
参考
- 1. Congenital blepharophimosis associated with a unique generalized myopathy.
- SCHWARTZ O, JAMPEL RS.
- Archives of ophthalmology.Arch Ophthalmol.1962 Jul;68:52-7.
- PMID 13909723
[★]
- ラ
- hyperostosis corticalis generalisata
- 関
- 骨軟骨形成異常、多発性骨端異形成症、脊椎骨端異形成症、軟骨形成不全症、シュワルツ・ヤンペル症候群、メルニック・ニードルズ症候群、全身性皮質性骨増殖症
[★]
メルニック・ニードルズ症候群、Melnick-Needles症候群
- 関
- dyschondroplasia、hyperostosis corticalis generalisata、multiple epiphyseal dysplasia、osteochondrodysplasia、Schwartz-Jampel syndrome、spondyloepiphyseal dysplasia
[★]
- ラ
- hyperostosis corticalis generalisata
- 関
- 全身性皮質性骨化過剰症
[★]
- 関
- hyperostosis corticalis generalisata
[★]
- 関
- cortex、cortical layer、cortically、cortices、cortico
[★]
骨増殖症、過骨症、骨過形成、骨化過剰症
- 関
- osteophytosis
- 同
- 骨肥厚
- 同
- 骨肥厚