| Disease ID | Source | Name | Description |
| 148700 | OMIM | Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) | A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. The disease is caused by variants affecting the gene represented in this entry. |
| 615508 | OMIM | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) | A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. The disease is caused by variants affecting the gene represented in this entry. |