H00474 | |
H number | H00474 |
Name | Schneckenbecken dysplasia |
Description | Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease is inherited as an autosomal recessive trait. |
Category | Congenital malformation |
Network | - |
Gene | SLC35D1 [HSA:23169] [KO:K15281] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C536637 OMIM: 269250 |
Reference | PMID:3799723 AUTHORS Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL TITLE A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. JOURNAL Am J Med Genet 25:47-59 (1986) DOI:10.1002/ajmg.1320250107 PMID:15386610 AUTHORS Varkey JJ, Jones RA TITLE Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. JOURNAL Ultrasound Obstet Gynecol 24:575-7 (2004) DOI:10.1002/uog.1115 PMID:11200994 AUTHORS Nikkels PG, Stigter RH, Knol IE, van der Harten HJ TITLE Schneckenbecken dysplasia, radiology, and histology. JOURNAL Pediatr Radiol 31:27-30 (2001) DOI:10.1007/s002470000357 PMID:19508970 AUTHORS Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S TITLE Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. JOURNAL J Med Genet 46:562-8 (2009) DOI:10.1136/jmg.2008.065201 PMID:17952091 AUTHORS Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S TITLE Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. JOURNAL Nat Med 13:1363-7 (2007) DOI:10.1038/nm1655 |