| H01777 | |
| H番号 | H01777 |
| 名称 | シュワルツ・ヤンペル症候群 |
| 概要 | Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder with a more severe phenotype. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | HSPG2 [HSA:3339] [KO:K06255] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Silverman-Handmaker type of dyssegmental dysplasia is an allelic disorder with a more severe phenotype. See also H00462 Stuve-Wiedemann syndrome and H00493 Heparan sulfate proteoglycan gene defects. |
| リンク | ICD-11: 8C71.1 ICD-10: G71.1 MeSH: D010009 OMIM: 255800 |
| 文献 | PMID:27857801 著者 Polat I, Karaoglu P, Yis U, Kurul SH タイトル Schwartz-Jampel syndrome with gastroduodenal bleeding. 雑誌 J Pediatr Neurosci 11:255-257 (2016) DOI:10.4103/1817-1745.193351 PMID:16927315 著者 Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S タイトル Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. 雑誌 Hum Mutat 27:1082-91 (2006) DOI:10.1002/humu.20388 |