Phenotypes associated with the disease palmoplantar keratoderma i, striate, focal, or diffuse (OMIM:148700):
- Hypergranulosis (HP:0025114): Hypergranulosis is an increased thickness of the stratum granulosum. Evidence: IEA. (OMIM:148700)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: PCS. Frequency: 1/1. (PMID:15897387)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 3/3. (PMID:20082890)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: 4/4. (PMID:19558595)
- Orthokeratotic hyperkeratosis (HP:0025080): A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. Evidence: PCS. Frequency: 1/1. (PMID:15897387)
- Yellow nails (HP:0011367): Yellowish discoloration of the nails. Evidence: PCS. Frequency: 1/1. (PMID:15897387)
- Streaks of hyperkeratosis along each finger onto the palm (HP:0007501). Evidence: PCS. Frequency: 15/15. (PMID:17194569;PMID:19558595)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/1. (PMID:15897387)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 15/15. (PMID:17194569;PMID:19558595)
- Palmoplantar blistering (HP:0007446): A type of blistering that affects the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 4/4. (PMID:19558595)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 1/1. (PMID:15897387)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:17194569)