| H01265 | |
| H number | H01265 |
| Name | Hydrolethalus syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (HLS1) HYLS1 [HSA:219844] [KO:K16472] (HLS2) KIF7 [HSA:374654] [KO:K18806] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536079 OMIM: 236680 614120 |
| Reference | PMID:15843405 (HLS1) AUTHORS Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L TITLE Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. JOURNAL Hum Mol Genet 14:1475-88 (2005) DOI:10.1093/hmg/ddi157 PMID:21552264 (HLS2) AUTHORS 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 TITLE KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. JOURNAL Nat Genet 43:601-6 (2011) DOI:10.1038/ng.826 |