autosomal recessive congenital ichthyosis 8

Summary
Synonym
  • ARCI8
  • lamellar ichthyosis 4
  • late-onset lamellar ichthyosis
Definition
An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
Super Class
autosomal recessive congenital ichthyosis
Disease Ontology
DOID:0060717
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
643418 LIPN lipase family member N
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q5VXI9 Lipase member N
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000989 Pruritus
HP:0011039 Abnormal helix morphology
HP:0000389 Chronic otitis media
HP:0100806 Sepsis
HP:0002205 Recurrent respiratory infections
HP:0000164 Abnormality of the dentition
HP:0008064 Ichthyosis
HP:0000958 Dry skin
HP:0100679 Lack of skin elasticity
HP:0001597 Abnormality of the nail
Displaying all 3 entries
Gene ID Gene Symbol Description
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
643418 LIPN lipase family member N
6820 SULT2B1 sulfotransferase family 2B member 1

About Release Notes Help Feedback

International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025