| H01246 | |
| H number | H01246 |
| 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 |
| Network | - |
| Gene | HPGD [HSA:3248] [KO:K00069] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB80.1 ICD-10: Q68.1 MeSH: D010004 OMIM: 119900 |
| Reference | PMID:18805827 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 |