KEGG   DISEASE: Pelger-Huet anomaly
Entry
H00234                      Disease                                
Name
Pelger-Huet anomaly
Description
Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Immune system disorders involving white cell lineages
   4B0Y  Other specified immune system disorders involving white cell lineages
    H00234  Pelger-Huet anomaly
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00234  Pelger-Huet anomaly
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa00100  Steroid biosynthesis
Network
nt06539 Cytoskeleton in muscle cells
Gene
LBR [HSA:3930] [KO:K19532]
Other DBs
ICD-11: 4B0Y
MeSH: D010381
OMIM: 169400
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:17245605
  Authors
Hoffmann K, Sperling K, Olins AL, Olins DE
  Title
The granulocyte nucleus and lamin B receptor: avoiding the ovoid.
  Journal
Chromosoma 116:227-35 (2007)
DOI:10.1007/s00412-007-0094-8
Reference
PMID:14684694
  Authors
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC
  Title
Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.
  Journal
J Med Genet 40:937-41 (2003)
DOI:10.1136/jmg.40.12.937
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