Harlequin Ichthyosis

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ABCA12, TGM1, ALOX12B, ALOXE3, CST6, PIGA, PRSS8, MIR210, EPO, GFAP, KCNJ11, TNF, VIM, TYRP1, TNFRSF1B, SOX10, SYP, PROM1, SLC6A4, RELA, RBM3, BECN1, ABCA4, NOG, ADIPOQ, P4HB, ABCG2, ABCB6, TXNIP, TBC1D9, PADI1, NT5C3A, NEUROG2, PDIA2, NLRP3, CD200R1, MIR17, MIAT, ABCB1, NFE2L2, NRAS, EPAS1, JAG1, ANXA2, B2M, BCL2, BDNF, CALB1, CAPN1, CD38, CD44, CSF2, CTNNB1, CTSD, NQO1, DLG4, ERN1, NPTX1, FCER2, FGF2, FGFR1, FGFR2, GABPA, HLA-A, HMGB1, HSPA5, IL6, IL10, LAMC2, MGMT, MNAT1, GRK2, H3C9P

Drugs

Isotretinoin, Liarozole, Talarozole

Isotretinoin, Liarozole, Talarozole, Tazarotene, Trifarotene, replication-incompetent, non-integrating, herpes simplex virus 1 vector expressing the human transglutaminase-1 enzyme

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Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern.