| H01930 | |
| H number | H01930 |
| Name | Au-Kline syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | HNRNPK [HSA:3190] [KO:K12886] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00570 Kabuki syndrome. |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.0 OMIM: 616580 |
| Reference | PMID:26954065 AUTHORS Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U TITLE A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. JOURNAL Clin Genet 90:258-62 (2016) DOI:10.1111/cge.12773 PMID:26173930 AUTHORS Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD TITLE 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. JOURNAL Hum Mutat 36:1009-1014 (2015) DOI:10.1002/humu.22837 |