| H01844 | |
| H number | H01844 |
| Name | Diaphanospondylodysostosis |
| Description | Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. The spine is most prominently affected, with diaphanous, that is, translucent vertebrae, due to abnormal vertebral ossification and segmentation. A consistent feature of all described DSD cases are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. It has been determined that DSD is due to mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. |
| Category | Congenital malformation |
| Network | - |
| Gene | BMPER [HSA:168667] [KO:K24517] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.5Y ICD-10: Q78.8 MeSH: C564305 OMIM: 608022 |
| Reference | PMID:15988748 AUTHORS Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joye N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P TITLE Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. JOURNAL Am J Med Genet A 136A:373-6 (2005) DOI:10.1002/ajmg.a.30537 PMID:20869035 AUTHORS Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH TITLE BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. JOURNAL Am J Hum Genet 87:532-7 (2010) DOI:10.1016/j.ajhg.2010.08.015 PMID:21990102 AUTHORS Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E TITLE A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). JOURNAL Am J Med Genet A 155A:2801-6 (2011) DOI:10.1002/ajmg.a.34240 PMID:22581610 AUTHORS Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R TITLE Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. JOURNAL Am J Med Genet A 158A:1447-51 (2012) DOI:10.1002/ajmg.a.35352 |