| H00736 | |
| H number | H00736 |
| Name | Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome |
| Description | Chanarin-Dorfman syndrome (CDS), also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder. |
| Category | Inherited metabolic disorder |
| Network | nt06531(H00736) lipid and insulin related signaling |
| Gene | ABHD5 [HSA:51099] [KO:K13699] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.2 ICD-10: E75.5 MeSH: C536560 OMIM: 275630 |
| Reference | PMID:16935789 AUTHORS Oji V, Traupe H TITLE Ichthyoses: differential diagnosis and molecular genetics. JOURNAL Eur J Dermatol 16:349-59 (2006) PMID:11590543 (ABHD5) AUTHORS Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J TITLE Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. JOURNAL Am J Hum Genet 69:1002-12 (2001) DOI:10.1086/324121 |