| H00263 | |
| H number | H00263 |
| Name | Acrocallosal syndrome |
| Description | Acrocallosal syndrome (ACLS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation. |
| Category | Congenital malformation |
| Network | - |
| Gene | KIF7 [HSA:374654] [KO:K18806] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA05.3 ICD-10: Q04.0 MeSH: D055673 OMIM: 200990 |
| Reference | PMID:21633164 AUTHORS Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ TITLE Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. JOURNAL J Clin Invest 121:2662-7 (2011) DOI:10.1172/JCI43639 PMID:29321670 AUTHORS Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A TITLE Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. JOURNAL Eur J Hum Genet 26:197-209 (2018) DOI:10.1038/s41431-017-0019-9 PMID:11857542 AUTHORS Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S TITLE Spectrum of the acrocallosal syndrome. JOURNAL Am J Med Genet 108:7-11 (2002) DOI:10.1002/ajmg.10236 |