ichthyosiform erythroderma, corneal involvement, and hearing loss
MONDO:0009440Mondo
Findings
No curated finding names ichthyosiform erythroderma, corneal involvement, and hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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.
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- 3 of 3 reported patients
- Decreased circulating copper concentrationHPOHP:0011967
- 3 of 3 reported patients
- ErythrodermaHPOHP:0001019
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients
- Sparse hairHPOHP:0008070
- 3 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- HypoalbuminemiaHPOHP:0003073
- 1 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 3 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 1 of 3 reported patients
Show the remaining 2
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 0 of 3 reported patients
- Peripheral neuropathyHPOHP:0009830
- 0 of 3 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.
- AP1B1HGNC:554
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of