| H00936 | |
| H番号 | H00936 |
| 名称 | Goldberg-Shprintzen 巨大結腸症候群 |
| 概要 | Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function of KBP is largely unclear, but it is required for cell differentiation and neurite development. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | KBP [HSA:26128] [KO:K23845] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For Hirschsprung disease, see H00910. |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C537279 OMIM: 609460 |
| 文献 | PMID:15883926 著者 Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM タイトル Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 雑誌 Am J Hum Genet 77:120-6 (2005) DOI:10.1086/431244 PMID:20621975 著者 Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM タイトル KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. 雑誌 Hum Mol Genet 19:3642-51 (2010) DOI:10.1093/hmg/ddq280 PMID:18192286 著者 Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS タイトル KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome. 雑誌 Development 135:599-608 (2008) DOI:10.1242/dev.012377 PMID:9571278 著者 Fryer AE タイトル Goldberg-Shprintzen syndrome: report of a new family and review of the literature. 雑誌 Clin Dysmorphol 7:97-101 (1998) DOI:10.1097/00019605-199804000-00003 |