autosomal recessive congenital ichthyosis 2
Findings
No curated finding names autosomal recessive congenital ichthyosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.
Definition from the Mondo Disease Ontology (MONDO:0009439), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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.
- AnhidrosisHPOHP:0000970
- 8 of 8 reported patients
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 8 of 8 reported patients
- 2 of 2 reported patients · Congenital onset
- Palmar hyperlinearityHPOHP:0033252
- 2 of 2 reported patients
- EctropionHPOHP:0000656
- 7 of 8 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 6 of 8 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 1 of 2 reported patients
- Borderline intellectual disability
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.
- ALOX12BHGNC:430
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: autosomal recessive congenital ichthyosis 2
- Also called
- ARCI2autosomal recessive congenital ichthyosis type 2ichthyosis, congenital, autosomal recessive type 2