Phenotypes associated with the disease loricrin keratoderma (OMIM:604117):
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: PCS. Frequency: 0/11. (PMID:8673107)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. (OMIM:604117)
- Hypergranulosis (HP:0025114): Hypergranulosis is an increased thickness of the stratum granulosum. Evidence: TAS. (OMIM:604117)
- Amniotic constriction ring (HP:0009775): Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. Evidence: PCS. Frequency: 11/11. (PMID:8673107)
- Honeycomb palmoplantar hyperkeratosis (HP:0007465): Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. Evidence: PCS. Frequency: 11/11. (PMID:8673107)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: TAS. (OMIM:604117)
- 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:8673107)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: PCS. Frequency: 2/2. (PMID:8673107)