| H01265 | |
| H番号 | H01265 |
| 名称 | Hydrolethalus 症候群 |
| 概要 | Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early embryonic development of the midline. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (HLS1) HYLS1 [HSA:219844] [KO:K16472] (HLS2) KIF7 [HSA:374654] [KO:K18806] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536079 OMIM: 236680 614120 |
| 文献 | PMID:15843405 (HLS1) 著者 Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L タイトル Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 雑誌 Hum Mol Genet 14:1475-88 (2005) DOI:10.1093/hmg/ddi157 PMID:21552264 (HLS2) 著者 Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T タイトル KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 雑誌 Nat Genet 43:601-6 (2011) DOI:10.1038/ng.826 |