autosomal recessive congenital ichthyosis 8
Findings
No curated finding names autosomal recessive congenital ichthyosis 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.
Definition from the Mondo Disease Ontology (MONDO:0013495), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- HypergranulosisHPOHP:0025114
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- IchthyosisHPOHP:0008064
- 7 of 7 reported patients
- OrthokeratosisHPOHP:0040162
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LIPNHGNC:23452
- Strong · G2P · Autosomal recessive · 2015
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: autosomal recessive congenital ichthyosis 8
- Also called
- ARCI8autosomal recessive congenital ichthyosis type 8ichthyosis, congenital, autosomal recessive type 8