Phenotypes associated with the disease hypertrophic osteoarthropathy, primary, autosomal dominant (OMIM:167100):
- Seborrheic dermatitis (HP:0001051): Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Elevated urinary prostaglandin E2 level (HP:0034049): An increased amount of prostaglandin E2 in the urine. Evidence: PCS. Frequency: 3/3. (PMID:24838973)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Cutis gyrata of scalp (HP:0010541): The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. Evidence: TAS. (OMIM:167100)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 3/3. (PMID:24838973)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 0/3. (PMID:24838973)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:167100)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: PCS. Frequency: 1/2. (PMID:23509104)
- Periosteal thickening of long tubular bones (HP:0006465): Thickening of the periosteum of long bone. Evidence: PCS. Frequency: 2/2. (PMID:23509104)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 1/2. (PMID:23509104)
- 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: TAS. (OMIM:167100)