Pain in muscle.

The occurrence of an unusually high amount of muscle pain following exercise.

Increased concentration of albumin in the urine.

Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.

Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.

A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.

An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.

Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.

Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \n\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  \n\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \n\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.\n\n

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.

The presence of chronic increased pressure in the systemic arterial system.

Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.

Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.

Accumulation of substantial excess body fat.

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Increased body weight with a body mass index of 25-29.9 kg per square meter.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Abnormally increased size of the liver.

Steatosis is a term used to denote lipid accumulation within hepatocytes.

Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.

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.

An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.

Degenerative changes of the fat tissue.

Developmental hypoplasia of the mandible.

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

Osteoporotic fractures are an important public health problem affecting both sexes. The pathogenesis of osteoporosis is complex and involves both environmental and genetic components. Osteoporotic bone is characterized by decreased bone strength, reflected by a decreased bone mineral density (BMD) and disrupted microarchitecture. Bone is remodeled continuously during adult life, and osteoporosis is typically the result of an imbalance in bone remodeling, with resorption exceeding formation (summary by Tofteng et al., 2007). See BMND1 (601884) for a list of bone mineral density (BMD) quantitative trait loci, some of which have been associated with susceptibility to osteoporosis. Association has been suggested between variation in the ESR1 gene (133430) and BMD.

The presence of an abnormal lateral curvature of the spine.

Reduced strength of muscles.

A contracture of the Achilles tendon.

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.

Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.

An abnormal increase in the amount of intramuscular fat tissue.

An abnormal increase in the amount of intraabdominal fat tissue.

Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.

A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.

Abnormal increase in muscle size and mass not due to training.

A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual.

Generalized degenerative changes of the fat tissue.

A acute form of pancreatitis.

The presence of inflammation in the pancreas.

Abnormal increased size of the spleen.

WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.

An increased concentration of cholesterol in the blood.

An increased concentration of glucose in the blood.

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.

The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal.

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).

The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal.

The concentration of uric acid in the blood circulation is above the upper limit of normal.

An abnormal increase in the level of triglycerides in the blood.

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.

An abnormal concentration of creatinine in the blood.

The concentration of C-reactive protein in the blood circulation is above the upper limit of normal.

A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.

The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal.

A deviation from the normal concentration of lipoprotein lipase in the blood circulation.

The facial appearance is more circular than usual as viewed from the front.

An increased amount of subcutaneous fat tissue around the neck.

An increased amount of subcutaneous fat tissue in the face.

A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.

A noncongenital process of hair loss, which may progress to partial or complete baldness.

A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.

Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).

The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.

Patchy and irregular skin pigmentation.

A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.

An increased concentration of insulin in the blood.

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.