autosomal recessive congenital ichthyosis 5
Findings
No curated finding names autosomal recessive congenital ichthyosis 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
Definition from the Mondo Disease Ontology (MONDO:0011485), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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.
- Palmar hyperlinearityHPOHP:0033252
- 15 of 15 reported patients
- White scaling skinHPOHP:0040190
- 5 of 5 reported patients
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 2 of 5 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.
- CYP4F22HGNC:26820
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
3 names
Resolves to: autosomal recessive congenital ichthyosis 5
- Also called
- ARCI5autosomal recessive congenital ichthyosis type 5ichthyosis, congenital, autosomal recessive type 5