| H00718 | |
| H番号 | H00718 |
| 名称 | ソトス症候群 |
| 概要 | Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (SOTOS1) NSD1 [HSA:64324] [KO:K15588] (SOTOS2) NFIX [HSA:4784] [KO:K09171] (SOTOS3) APC2 [HSA:10297] [KO:K02085] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Beckwith-Wiedemann syndrome [DS:H00713] is a distinct overgrowth condition, and a few cases could be related to NSD1 deletions or mutations. See also H01751 Weaver syndrome. |
| リンク | ICD-11: LD2C ICD-10: Q87.3 MeSH: D058495 OMIM: 117550 614753 617169 |
| 文献 | PMID:12807965 著者 Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V タイトル Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 雑誌 J Med Genet 40:436-40 (2003) DOI:10.1136/jmg.40.6.436 PMID:12464997 著者 Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N タイトル NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 雑誌 Am J Hum Genet 72:132-43 (2003) DOI:10.1086/345647 PMID:14997421 (SOTOS1) 著者 Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L タイトル Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 雑誌 Am J Hum Genet 74:715-20 (2004) DOI:10.1086/383093 PMID:26927468 (SOTOS2) 著者 Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M タイトル Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. 雑誌 Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 160:161-7 (2016) DOI:10.5507/bp.2016.006 PMID:25753423 (SOTOS3) 著者 Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M タイトル Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. 雑誌 Cell Rep 10:1585-1598 (2015) DOI:10.1016/j.celrep.2015.02.011 |