Table 8

Monogenic diseases due to mutations of genes involved in lipid metabolism and displaying an epidermal phenotype

Gene

Function

MIM/reference

Pathology


ABCA12

ABC lipid transporter

#242500

Harlequin ichthyosis

STS

Steroid sulfatase

+38100

X-linked ichthyosis

GBA

Glucocerebrosidase

#230800

Gaucher disease

ALOXE3/ALOXB12

Arachidonate lipoxygenases

#242100

Non-bullous congenital ichthyosiform erythroderma

CGI58 (ABHD5)

Putative triglyceride lipase

[62]

Chanarin-Dorman syndrome

LIPH

Phospholipase A1

[63]

Hair growth defect


Toulza et al. Genome Biology 2007 8:R107   doi:10.1186/gb-2007-8-6-r107

Open Data