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autosomal recessive congenital ichthyosis 4B

Summary
Synonym
  • ARCI4B
  • harlequin ichthyosis
  • harlequin type ichthyosis congenita
  • harlequin type ichthyosis fetalis
Definition
An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
Super Class
autosomal recessive congenital ichthyosis
Disease Ontology
DOID:0060713
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26154 ABCA12 ATP binding cassette subfamily A member 12
Displaying all 4 entries
Gene ID Gene Symbol Description Source
18700 Piga phosphatidylinositol glycan anchor biosynthesis, class A
73720 Cst6 cystatin E/M
74591 Abca12 ATP-binding cassette, sub-family A member 12
76560 Prss8 serine protease 8 (prostasin)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q86UK0 Glucosylceramide transporter ABCA12
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025