autosomal recessive congenital ichthyosis 6
Findings
No curated finding names autosomal recessive congenital ichthyosis 6 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 NIPAL4 gene.
Definition from the Mondo Disease Ontology (MONDO:0012847), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- Generalized ichthyosisHPOHP:0007503
- 6 of 23 reported patients
- 27 of 27 reported patients · Infantile onset
- Palmoplantar keratodermaHPOHP:0000982
- 23 of 23 reported patients
- EctropionHPOHP:0000656
- Occasional (5% to 29% of cases)
- HypohidrosisHPOHP:0000966
- Occasional (5% to 29% of cases)
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 17 of 50 reported patients
- ErythrodermaHPOHP:0001019
- 6 of 23 reported patients
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.
- NIPAL4HGNC:28018
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- 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 6
- Also called
- ARCI6autosomal recessive congenital ichthyosis type 6ichthyosis, congenital, autosomal recessive type 6