| H00515 | |
| H number | H00515 |
| Name | Atelosteogenesis type II |
| Description | Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene. |
| Category | Congenital malformation |
| Network | - |
| Gene | DTDST [HSA:1836] [KO:K14701] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.03 ICD-10: Q77.5 MeSH: C535395 OMIM: 256050 |
| Reference | PMID:11448940 AUTHORS Karniski LP TITLE Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. JOURNAL Hum Mol Genet 10:1485-90 (2001) DOI:10.1093/hmg/10.14.1485 PMID:8571951 AUTHORS Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES TITLE Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. JOURNAL Am J Hum Genet 58:255-62 (1996) |