Phenotypes associated with the disease Pachydermoperiostosis (ORPHA:2796):
- Peptic ulcer (HP:0004398): The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Abnormal bone marrow cell morphology (HP:0005561): An anomaly of the form or number of cells in the bone marrow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Cerebral palsy (HP:0100021): Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- Abnormal cortical bone morphology (HP:0003103): An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2796)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- 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: Frequent (HP:0040282). (ORPHA:2796)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Abnormal hair quantity (HP:0011362): An abnormal amount of hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Clubbing of toes (HP:0100760): Terminal broadening of the toes (distal phalanges of the toes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2796)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Elevated circulating growth hormone concentration (HP:0000845): Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2796)