KEGG   DISEASE: HEM skeletal dysplasia
Entry
H00447                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00447  HEM skeletal dysplasia
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06034  Cholesterol biosynthesis
   H00447  HEM skeletal dysplasia
Pathway
hsa00100  Steroid biosynthesis
Network
nt06034 Cholesterol biosynthesis
Gene
(GRBGD) LBR [HSA:3930] [KO:K19532]
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
Reference
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
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