Phenotypes associated with the disease Acromegaly (ORPHA:963):
- Deep plantar creases (HP:0001869): The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Cortical diaphyseal thickening of the upper limbs (HP:0003859). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Macrodactyly (HP:0004099): Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Deep palmar crease (HP:0006191): Excessively deep creases of the palm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- 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: Very frequent (HP:0040281). (ORPHA:963)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Anterior hypopituitarism (HP:0000830): A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- 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: Very frequent (HP:0040281). (ORPHA:963)
- 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:963)
- 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:963)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Broad foot (HP:0001769): A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Pituitary growth hormone cell adenoma (HP:0011760): A type of pituitary adenoma that produces growth hormone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Facial shape deformation (HP:0011334). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Constrictive median neuropathy (HP:0012185): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Broad jaw (HP:0012802): Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Pituitary macroadenoma (HP:0025693): A pituitary gland adenoma that is larger than 10mm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Increased circulating insulin-like growth factor 1 concentration (HP:0030269): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Dysmenorrhea (HP:0100607): Pain during menstruation that interferes with daily activities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- 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: Occasional (HP:0040283). (ORPHA:963)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Vertebral compression fracture (HP:0002953). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Intestinal polyp (HP:0005266): A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Pituitary prolactin cell adenoma (HP:0006767): A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Generalized hyperpigmentation (HP:0007440). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Pituitary hypothyroidism (HP:0008245): A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- 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: Occasional (HP:0040283). (ORPHA:963)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Restless legs (HP:0012452): An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Night sweats (HP:0030166): Occurrence of excessive sweating during sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Acral overgrowth (HP:0033794): Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:963)
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Increased circulating prolactin concentration (HP:0000870): The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Generalized hirsutism (HP:0002230): Abnormally increased hair growth over much of the entire body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Multinodular goiter (HP:0005987): Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:963)
- Abnormal heart valve physiology (HP:0031653): Any functional abnormality of a cardiac valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Decreased libido (HP:0046504): Decreased sexual desire. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Dysuria (HP:0100518): Painful or difficult urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)
- Galactorrhea (HP:0100829): Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:963)