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Results: 4

1.

Childhood

From 2 to 11 years of life. [from ORDO]

MedGen UID:
832642
Concept ID:
CN227394
Disease or Syndrome
2.

Aarskog syndrome

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010). [from OMIM]

MedGen UID:
61234
Concept ID:
C0175701
Disease or Syndrome
3.

Alcohol dependence

For most adults, moderate alcohol use is probably not harmful. However, about 18 million adult Americans have an alcohol use disorder. This means that their drinking causes distress and harm. It includes alcoholism and alcohol abuse. Alcoholism, or alcohol dependence, is a disease that causes. -Craving - a strong need to drink. -Loss of control - not being able to stop drinking once you've started. -Physical dependence - withdrawal symptoms. -Tolerance - the need to drink more alcohol to feel the same effect. With alcohol abuse, you are not physically dependent, but you still have a serious problem. The drinking may cause problems at home, work, or school. It may cause you to put yourself in dangerous situations, or lead to legal or social problems. Another common problem is binge drinking. It is drinking about five or more drinks in two hours for men. For women, it is about four or more drinks in two hours. Too much alcohol is dangerous. Heavy drinking can increase the risk of certain cancers. It can cause damage to the liver, brain, and other organs. Drinking during pregnancy can harm your baby. Alcohol also increases the risk of death from car crashes, injuries, homicide, and suicide. If you want to stop drinking, there is help. Start by talking to your health care provider. Treatment may include medicines, counseling, and support groups. NIH: National Institute on Alcohol Abuse and Alcoholism.  [from MedlinePlus]

MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
4.

Tacrolimus response

Tacrolimus is an immunosuppressive agent administered to transplant recipients to prevent and treat allograft rejection. Clinical use of tacrolimus is complicated by a narrow therapeutic index and high inter-patient pharmacokinetic variability, partly due to variations within the CYP3A5 gene. Patients who are CYP3A5 extensive or intermediate metabolizers may require increased starting doses of tacrolimus. Adjustment of dose based on CYP3A5 phenotype may allow for a more rapid achievement of therapeutic drug concentrations. This particular dosing recommendation is unusual in that it is those with the extensive metabolizer phenotype (typically referred to as the "normal" metabolizer phenotype) who may require a dosage modification (here, an increase in normal starting dose), while those with the poor metabolizer phenotype often do not require a change to the starting dose. This is because, in the case of CYP3A5, extensive metabolizers are actually the minority in most worldwide populations (excluding those of African descent), while those with the poor metabolizer phenotype are the majority. Therapeutic guidelines for tacrolimus based on CYP3A5 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website (http://www.pharmgkb.org/guideline/PA166124619). [from PharmGKB]

MedGen UID:
831835
Concept ID:
C3547403

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