Congenital reticular ichthyosiform erythroderma: genes and variants
Congenital reticular ichthyosiform erythroderma is linked to 2 analyzed proteins (KRT10 and TGM1). 1 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Congenital reticular ichthyosiform erythroderma
KRT10: Keratin, type I cytoskeletal 10
It forms intermediate filaments with keratin 1 in differentiating epidermal keratinocytes, protecting the upper epidermis from mechanical stress. Dominant pathogenic variants cause epidermolytic ichthyosis, while specific mechanisms can produce ichthyosis with confetti.
1 disease-causing and 1 uncertain variants in KRT10 are linked to Congenital reticular ichthyosiform erythroderma.
TGM1: Protein-glutamine gamma-glutamyltransferase K
It crosslinks structural proteins and lipids during formation of the cornified envelope, creating the mechanically resilient outer skin barrier. Biallelic loss-of-function variants are a major cause of autosomal recessive congenital ichthyosis, particularly lamellar ichthyosis.
0 disease-causing and 0 uncertain variants in TGM1 are linked to Congenital reticular ichthyosiform erythroderma.
Known disease-causing variants in Congenital reticular ichthyosiform erythroderma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT10 L157P | 157 | IF rod | Disease-causing (★) |
Same protein, different disease
- Epidermolytic hyperkeratosis 2A, autosomal dominant is also caused by KRT10 variants; they fall partly in the same places as the Congenital reticular ichthyosiform erythroderma variants (7 disease-causing).
Diseases related to Congenital reticular ichthyosiform erythroderma
- Ichthyosis and erythrokeratoderma, also linked to KRT10 and TGM1
- Autosomal recessive congenital ichthyosis, also linked to TGM1
- Pachyonychia congenita, also linked to KRT10
- Lamellar ichthyosis, also linked to TGM1
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT10
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT10
- Annular epidermolytic ichthyosis, also linked to KRT10
- Epidermolytic ichthyosis, also linked to KRT10
- Autosomal dominant epidermolytic ichthyosis, also linked to KRT10
- Epidermolytic nevus, also linked to KRT10
- Treacher Collins syndrome 2, also linked to TGM1
- Ichthyosis, annular epidermolytic 1, also linked to KRT10
Frequently asked questions
Which genes are linked to Congenital reticular ichthyosiform erythroderma?
In CATVariant, Congenital reticular ichthyosiform erythroderma is linked to 2 analyzed proteins: KRT10 (Keratin, type I cytoskeletal 10) and TGM1 (Protein-glutamine gamma-glutamyltransferase K).
How many genetic variants are linked to Congenital reticular ichthyosiform erythroderma?
8 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital reticular ichthyosiform erythroderma look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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