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1.

Beta-blockers

MedGen UID:
850975
Concept ID:
CN231744
Disease or Syndrome
2.

Ulnar-mammary syndrome

The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). [from OMIM]

MedGen UID:
357886
Concept ID:
C1866994
Congenital Abnormality; Disease or Syndrome
3.

Polydactyly myopia syndrome

MedGen UID:
357424
Concept ID:
C1868117
Disease or Syndrome
4.

Hypokinesia

Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. [from HPO]

MedGen UID:
39223
Concept ID:
C0086439
Finding; Sign or Symptom
5.

Pain

Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.  [from MedlinePlus]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
6.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
7.

Heart disease

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:. - Control your blood pressure. - Lower your cholesterol. - Don't smoke. - Get enough exercise. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
8.

Chest pain

Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including. -Other heart problems, such as angina. -Panic attacks. -Digestive problems, such as heartburn or esophagus disorders. -Sore muscles. -Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism. -Costochondritis - an inflammation of joints in your chest. Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.  [from MedlinePlus]

MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
9.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
10.

Angina pectoris

Angina is chest pain or discomfort you feel when there is not enough blood flow to your heart muscle. Your heart muscle needs the oxygen that the blood carries. Angina may feel like pressure or a squeezing pain in your chest. It may feel like indigestion. You may also feel pain in your shoulders, arms, neck, jaw, or back. . Angina is a symptom of coronary artery disease (CAD), the most common heart disease. CAD happens when a sticky substance called plaque builds up in the arteries that supply blood to the heart, reducing blood flow. There are three types of angina:. -Stable angina is the most common type. It happens when the heart is working harder than usual. Stable angina has a regular pattern. Rest and medicines usually help. -Unstable angina is the most dangerous. It does not follow a pattern and can happen without physical exertion. It does not go away with rest or medicine. It is a sign that you could have a heart attack soon. -Variant angina is rare. It happens when you are resting. Medicines can help. Not all chest pain or discomfort is angina. If you have chest pain, you should see your health care provider. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
1929
Concept ID:
C0002962
Finding; Finding
11.

Haloperidol response

MedGen UID:
808070
Concept ID:
CN221260
Sign or Symptom
12.

Mirtazapine response

MedGen UID:
808057
Concept ID:
CN221253
Sign or Symptom
13.

Venlafaxine response

Venlafaxine is an antidepressant used in the treatment of major depressive order, anxiety, and panic disorders. Venlafaxine belongs to the drug class of serotonin and norepinephrine reuptake inhibitors (SNRIs). The CYP2D6 enzyme metabolizes a quarter of all prescribed drugs, including venlafaxine. This enzyme converts venlafaxine to the active metabolite, O-desmethylvenlafaxine (ODV). Individuals who carry two inactive copies of CYP2D6 ("poor metabolizers") may have decreased capacity to metabolize venlafaxine, resulting in less active metabolites in their system. In contrast, individuals who carry more than two copies of functional CYP2D6 alleles ("ultrarapid metabolizers") may have an enhanced capacity to metabolize venlafaxine, resulting in more increased active metabolites in their system. The FDA states that because the total exposure of venlafaxine and ODV is similar in poor and extensive (normal) metabolizers, there is no need for different venlafaxine dosing regimens for these individuals. However, the Dutch Pharmacogenetics Working Group recommends that both poor and intermediate metabolizer genotypes should be treated with an alternative drug, or lower doses of venlafaxine based on clinical response and drug levels. For ultrarapid metabolizer genotypes, they recommend that either the dose of venlafaxine be increased up to 150% of the normal dose, or an alternative drug used. [from Medical Genetics Summaries]

MedGen UID:
450500
Concept ID:
CN078028
Sign or Symptom
14.

Tramadol response

Tramadol is an analgesic used to treat moderate to moderately severe pain. It is a synthetic opioid, related to codeine, and is used to treat both acute and chronic pain. Tramadol is often prescribed for post-operative pain, and pain caused by cancer, osteoarthritis, and other musculoskeletal diseases. The CYP2D6 enzyme metabolizes a quarter of all prescribed drugs, including tramadol. Individuals who carry two inactive copies of CYP2D6 are known as poor metabolizers and have higher plasma concentrations of tramadol compared with individuals who have two copies of normal activity alleles. Individuals who carry one or more reduced or inactive copies of CYP2D6 are known as intermediate metabolizers, and individuals who carry more than two active copies of CYP2D6 are known as ultrarapid metabolizers. The FDA states that the levels of tramadol are approximately 20% higher in poor metabolizers compared to extensive (“normal”) metabolizers, while concentrations of the tramadol metabolite, M1, are 40% lower. Inhibitors of CYP2D6, such as fluoxetine and amitriptyline, also inhibit the metabolism of tramadol, and the full pharmacological impact of these alterations of tramadol dose in terms of either efficacy or safety is unknown. A guideline from the Dutch Pharmacogenetics Working Group includes dose recommendations for poor metabolizers (either select an alternative drug—not oxycodone or codeine—or be alert to the symptoms of insufficient pain relief). It also contains dose recommendations for intermediate metabolizers (be alert to decreased efficacy of tramadol, consider increasing the dose and if the response is still inadequate, either select an alternative drug—not oxycodone or codeine, or be alert to the symptoms of insufficient pain relief) and ultrarapid metabolizers (either reduce the dose of tramadol by 30% and be alert to adverse drug events, or select an alternative drug e.g., acetaminophen, NSAID, morphine—not oxycodone or codeine). [from Medical Genetics Summaries]

MedGen UID:
450495
Concept ID:
CN078023
Sign or Symptom
15.

Timolol response

MedGen UID:
450491
Concept ID:
CN078019
Sign or Symptom
16.

Propranolol response

MedGen UID:
450474
Concept ID:
CN078002
Sign or Symptom
17.

Propafenone response

Propafenone is an antiarrhythmic medication. It is used to prevent the reoccurrence of atrial fibrillation in patients with episodic atrial fibrillation who do not have underlying structural heart disease (propafenone may provoke proarrhythmic events in patients with structural heart disease). Propafenone belongs to class IC of antiarrhythmic agents and acts on cardiac sodium channels to inhibit action potentials. In general, because of the lack of evidence that antiarrhythmic agents improve survival, they should only be used to treat arrhythmias that are thought to be life-threatening. Propafenone is metabolized by CYP2D6, CYP3A4, and CYP1A2 enzymes. Approximately 6% of Caucasians in the US lack CYP2D6 activity, and are known as “CYP2D6 poor metabolizers”. Standard doses of propafenone will lead to higher plasma drug concentrations in poor metabolizers, compared to normal metabolizers. In addition, drugs that inhibit CYP2D6, CYP3A4, and CYP1A2 may also increase propafenone levels, which may lead to cardiac arrhythmia episodes. The FDA-approved drug label for propafenone states that the recommended dosing regimen of propafenone is the same for all patients (CYP2D6 poor metabolizers and normal metabolizers). However, the label also cautions that the simultaneous use of propafenone with both a CYP2D6 inhibitor (or in patients with CYP2D6 deficiency) and a CYP3A4 inhibitor should be avoided, because of the increased risk of causing arrhythmias and other adverse events. A guideline from The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Pharmacists Association (KNMP) provides dosing recommendations for propafenone, based on CYP2D6 genotype. For CYP2D6 poor metabolizers, the guideline recommends reducing the initial dose of propafenone by 70%, ECG monitoring, and monitoring plasma concentrations. For intermediate and ultrarapid metabolizers, the guideline states there is insufficient data to allow for a calculation of dose adjustment. Therefore, it is recommended to adjust the dose in response to plasma concentration and to monitor with ECG, or select an alternative drug (e.g., sotalol, disopyramide, quinidine, amiodarone). [from Medical Genetics Summaries]

MedGen UID:
450473
Concept ID:
CN078001
Sign or Symptom
18.

Metoprolol response

Metoprolol is a beta blocker used in the treatment of hypertension, angina, and heart failure. Metoprolol selectively blocks beta1 adrenoreceptors mainly expressed in cardiac tissue. Blockade of these receptors reduces the heart rate and decreases the force of heart contractions. Metoprolol is primarily metabolized by the CYP2D6 enzyme. Approximately 8% of Caucasians and 2% of most other populations have absent CYP2D6 activity and are known as “CYP2D6 poor metabolizers.” In addition, a number of drugs inhibit CYP2D6 activity, such as quinidine, fluoxetine, paroxetine, and propafenone. The FDA-approved drug label for metoprolol states that CYP2D6 poor metabolizers, and normal metabolizers who concomitantly take drugs that inhibit CYP2D6, will have increased (several-fold) metoprolol blood levels, decreasing metoprolol’s cardioselectivity. The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP) has published metoprolol dosing recommendations based on CYP2D6 genotype. For individuals who have a CYP2D6 gene variation that reduces the conversion of metoprolol to inactive metabolites, DPWG states that the clinical consequences are limited mainly to the occurrence of asymptomatic bradycardia. For CYP2D6 poor metabolizers, if a gradual reduction in heart rate is desired, or in the event of symptomatic bradycardia, DPWG recommends increasing the dose of metoprolol in smaller steps and/or prescribing no more than 25% of the standard dose. For other cases, no action is required. Please note: Beta blockers such as metoprolol have been demonstrated in several large trials to be safe and effective for treatment of patients with cardiovascular disease. As a mainstay of therapy associated with improvements in quality of life, hospitalization rates, and survival, clinical care pathways that might lead to underutilization of beta blockers require scrutiny. FDA points out that CYP2D6 poor metabolizers will have decreased cardioselectivity for metoprolol due to increased metoprolol blood levels. Yet, it is common clinical practice to adjust the dose of metoprolol according to the patient’s heart rate. FDA does not specifically comment on the role of genetic testing for initiating therapy. [from Medical Genetics Summaries]

MedGen UID:
450468
Concept ID:
CN077996
Sign or Symptom
19.

Dextromethorphan response

MedGen UID:
450447
Concept ID:
CN077975
Sign or Symptom
20.

Carvedilol response

MedGen UID:
450437
Concept ID:
CN077965
Sign or Symptom
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