KEGG   DISEASE: Isolated congenital nail clubbingHelp
Entry
H01246                      Disease                                

Name
Isolated congenital nail clubbing;
Isolated congenital digital clubbing
Description
Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01246  Isolated congenital nail clubbing
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    Congenital deformities of fingers or toes
     LB80  Congenital deformities of fingers
      H01246  Isolated congenital nail clubbing
BRITE hierarchy
Gene
HPGD [HSA:3248] [KO:K00069]
Other DBs
ICD-11: LB80.1
ICD-10: Q68.1
MeSH: D010004
OMIM: 119900
Reference
  Authors
Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W
  Title
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
  Journal
J Med Genet 46:14-20 (2009)
DOI:10.1136/jmg.2008.061234

» Japanese version

DBGET integrated database retrieval system