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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
Disease Ontology
DOID:0060713
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1474 CST6 cystatin E/M
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5652 PRSS8 serine protease 8
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)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
192107 Prss8 serine protease 8
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 all 3 entries
Gene ID Gene Symbol Description Source
171782 abt-2 ABC transporter domain-containing protein
174386 piga-1 PIGA GPI anchor biosynthesis domain-containing protein
177372 cpi-1 Cystatin cpi-1
Displaying 1 entry
Gene ID Gene Symbol Description Source
855928 SPT14 phosphatidylinositol N-acetylglucosaminyltransferase SPT14
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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: December 9, 2024