| H00733 | |
| H number | H00733 |
| Name | Harlequin ichthyosis |
| Description | Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes. |
| Category | Congenital malformation |
| Network | - |
| Gene | ABCA12 [HSA:26154] [KO:K05646] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.02 ICD-10: Q80.4 MeSH: C538424 OMIM: 242500 |
| Reference | PMID:18341575 AUTHORS Akiyama M, Shimizu H TITLE An update on molecular aspects of the non-syndromic ichthyoses. JOURNAL Exp Dermatol 17:373-82 (2008) DOI:10.1111/j.1600-0625.2007.00691.x PMID:16935789 AUTHORS Oji V, Traupe H TITLE Ichthyoses: differential diagnosis and molecular genetics. JOURNAL Eur J Dermatol 16:349-59 (2006) PMID:16481150 AUTHORS Akiyama M TITLE Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. JOURNAL J Dermatol Sci 42:83-9 (2006) DOI:10.1016/j.jdermsci.2006.01.003 |