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Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:0060713
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
960 CD44 CD44 molecule (IN blood group)
2208 FCER2 Fc epsilon receptor II
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5652 PRSS8 serine protease 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
18700 Piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
363464 Piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
37020 PIG-A Phosphatidylinositol glycan anchor biosynthesis class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
791759 piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100158632 piga phosphatidylinositol glycan anchor biosynthesis class A Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174386 piga-1 phosphatidylinositol N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855928 SPT14 phosphatidylinositol N-acetylglucosaminyltransferase SPT14
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024