autosomal recessive congenital ichthyosis 4A
Findings
No curated finding names autosomal recessive congenital ichthyosis 4A 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 ABCA12 gene.
Definition from the Mondo Disease Ontology (MONDO:0011026), 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
- 15 of 15 reported patients
- EctropionHPOHP:0000656
- 14 of 15 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 14 of 15 reported patients
- ClubbingHPOHP:0001217
- 1 of 15 reported patients
- LeukonychiaHPOHP:0001820
- 1 of 15 reported patients
- HepatosplenomegalyHPOHP:0001433
- 0 of 8 reported patients
- Spastic paraplegiaHPOHP:0001258
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.
- ABCA12HGNC:14637
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: autosomal recessive congenital ichthyosis 4A
- Also called
- ARCI4Aautosomal recessive congenital ichthyosis type 4Aichthyosis, congenital, autosomal recessive type 4AICR2B