autosomal recessive congenital ichthyosis 10
Findings
No curated finding names autosomal recessive congenital ichthyosis 10 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 PNPLA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014011), 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.
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 6 of 6 reported patients · Congenital onset
- ErythrodermaHPOHP:0001019
- 6 of 6 reported patients
- Generalized ichthyosisHPOHP:0007503
- 6 of 6 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 6 of 6 reported patients
- HypergranulosisHPOHP:0025114
- HyperkeratosisHPOHP:0000962
- Orthokeratotic hyperkeratosisHPOHP:0025080
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.
- HGNC:21246HGNC:21246
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: autosomal recessive congenital ichthyosis 10
- Also called
- ARCI10autosomal recessive congenital ichthyosis type 10ichthyosis, congenital, autosomal recessive type 10