| H01930 | |
| H番号 | H01930 |
| 名称 | Au-Kline 症候群 |
| 概要 | Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and skeletal/connective tissue abnormalities. Facial dysmorphism and multiple congenital anomalies overlap with Kabuki syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HNRNPK [HSA:3190] [KO:K12886] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00570 Kabuki syndrome. |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.0 OMIM: 616580 |
| 文献 | PMID:26954065 著者 Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U タイトル A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 雑誌 Clin Genet 90:258-62 (2016) DOI:10.1111/cge.12773 PMID:26173930 著者 Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD タイトル GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. 雑誌 Hum Mutat 36:1009-1014 (2015) DOI:10.1002/humu.22837 |