Previous symbols: EHK1. Aliases: KRT1A.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Diffuse Nonepidermolytic Palmoplantar Keratoderma | causative germline |
mechanism: KRT1 germline keratin 1 defect
|
| Inherited Ichthyosis |
untyped
Causative heterozygous pathogenic variants in epidermolytic ichthyosis
|
mechanism: Disrupted Keratinocyte Differentiation and Cornification
subtype: Keratinopathic Ichthyosis
scoped to subtype: Keratinopathic Ichthyosis
|
| KRT1 Keratinopathies |
untyped
Causative
|
mechanism: KRT1 Dominant-Negative Mutations
subtype: Annular Epidermolytic Ichthyosis; Epidermolytic Ichthyosis; Epidermolytic PPK; Ichthyosis Hystrix Curth-Macklin
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.