| H00447 | |
| H number | H00447 |
| Name | HEM skeletal dysplasia; Greenberg dysplasia |
| Description | Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia. |
| Category | Congenital malformation |
| Network | nt06034(H00447) Cholesterol biosynthesis |
| Gene | (GRBGD) LBR [HSA:3930] [KO:K19532] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.04 ICD-10: Q78.8 MeSH: C535858 OMIM: 215140 |
| Reference | PMID:17467691 AUTHORS Worman HJ, Bonne G TITLE "Laminopathies": a wide spectrum of human diseases. JOURNAL Exp Cell Res 313:2121-33 (2007) DOI:10.1016/j.yexcr.2007.03.028 PMID:12618959 (GRBGD) AUTHORS Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC TITLE Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. JOURNAL Am J Hum Genet 72:1013-7 (2003) DOI:10.1086/373938 |