| H01498 | |
| H番号 | H01498 |
| 名称 | 多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形; Larsen 様症候群 |
| 概要 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosyntheses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06029(H01498) Glycosaminoglycan biosynthesis |
| 病因遺伝子 | B3GAT3 [HSA:26229] [KO:K10158] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.E ICD-10: Q74.8 MeSH: C563914 OMIM: 245600 |
| 文献 | PMID:21763480 著者 Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K タイトル Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 雑誌 Am J Hum Genet 89:15-27 (2011) DOI:10.1016/j.ajhg.2011.05.021 PMID:24668659 著者 von Oettingen JE, Tan WH, Dauber A タイトル Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. 雑誌 Am J Med Genet A 164A:1580-6 (2014) DOI:10.1002/ajmg.a.36487 |