autosomal recessive congenital ichthyosis 1
Findings
No curated finding names autosomal recessive congenital ichthyosis 1 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 TGM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009441), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- IchthyosisHPOHP:0008064
- 17 of 17 reported patients
- EctropionHPOHP:0000656
- 16 of 17 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 16 of 17 reported patients
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 14 of 17 reported patients · Congenital onset
- AlopeciaHPOHP:0001596
- 7 of 17 reported patients
- Congenital ichthyosiform erythrodermaHPOHP:0007431
- 7 of 17 reported patients · Congenital onset
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.
- TGM1HGNC:11777
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: autosomal recessive congenital ichthyosis 1
- Also called
- ARCI1autosomal recessive congenital ichthyosis type 1ichthyosis, congenital, autosomal recessive type 1