Disease Report for: Chanarin-Dorfman syndrome
Chanarin-Dorfman syndrome | Gene_locus | human-ABHD5 |
| Alternative_name (9) |
| Comment | (from OMIM) By examining the critical region for triglyceride storage disease with impaired long-chain fatty acid oxidation, a rare autosomal recessive form of NCIE (242100), on chromosome 3p21, Lefevre et al.(2001) identified several candidate genes, one of which, designated comparative gene identification-58 (human-ABHD5).In 9 families from the Mediterranean basin segregating triglyceride storage disease with impaired long-chain fatty acid oxidation, Lefevre et al. (2001) identified 8 different haplotypes and mutations in the human-ABHD5 gene. Many more mutations have been described since then (see below). The Family in ESTHER id CGI-58_ABHD5_ABHD4. The disease locus was designated NLSDI (neutral lipid storage disease with ichtyosis). Symptoms are close to NLSMD (neutral lipid storage disease with myopathy) which is due to mutations in patatin-like phospholipase domain-containing protein-2 (adipose triglyceride lipase; ATGL (PNPLA2); not an alpha beta hydrolase Fischer et al.). But NLSMD do not show ichtyolisis and in NLSDI myopathy is milder. However ABDH5 interacts and activates ATGL (Yamaguchi et al.). Two highly conserved ABHD5 amino acids (R299 and G328) enabled ABHD4 (ABHD4 N303R/S332G) to activate ATGL. The corresponding ABHD5 mutations (ABHD5 R299N and ABHD5 G328S) selectively disrupted lipolysis without affecting ATGL lipid droplet translocation or ABHD5 interactions with perilipin proteins and ABHD5 ligands (Sanders et al.) |
| OMIM | 604780 |
| | 275630 |
| Mutation (44) |
| Paper (77) |
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