autosomal recessive congenital ichthyosis 9
Findings
No curated finding names autosomal recessive congenital ichthyosis 9 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 CERS3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014010), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 6 of 6 reported patients
- EclabionHPOHP:0012472
- 1 of 1 reported patient
- EctropionHPOHP:0000656
- 1 of 1 reported patient
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- ErythrodermaHPOHP:0001019
- 6 of 6 reported patients
- HyperkeratosisHPOHP:0000962
- 5 of 5 reported patients
- HypohidrosisHPOHP:0000966
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.
- CERS3HGNC:23752
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: autosomal recessive congenital ichthyosis 9
- Also called
- ARCI9autosomal recessive congenital ichthyosis type 9ichthyosis, congenital, autosomal recessive type 9