Phenotypes associated with the disease autosomal dominant ichthyosis vulgaris (OMIM:146700, an entry in Online Mendelian Inheritance in Man):
- Ichthyosis (HP:0008064, a Human Phenotype Ontology term): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: PCS. (PMID:16444271)
- Dry skin (HP:0000958, a Human Phenotype Ontology term): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. (PMID:23301728)
- Keratosis pilaris (HP:0032152, a Human Phenotype Ontology term): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: PCS. (PMID:23301728)
- Asthma (HP:0002099, a Human Phenotype Ontology term): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (PMID:23301728)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:23301728)
- Palmar hyperlinearity (HP:0033252, a Human Phenotype Ontology term): Exaggerated skin markings (dermatoglyphics) on the palms of the hand. Evidence: PCS. (PMID:23301728)
- Absent keratohyalin granules (HP:0033807, a Human Phenotype Ontology term): Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. Evidence: PCS. Frequency: 1/1. (PMID:16444271)
- Eczematoid dermatitis (HP:0000964, a Human Phenotype Ontology term): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (PMID:23301728)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:16444271)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:16444271)