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Items: 15

1.

Resistance to hepatitis C virus

MedGen UID:
332112
Concept ID:
C1836031
Finding
2.

Hiv

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
3.

Thrombocytopenia

A reduction in the number of circulating thrombocytes. [from HPO]

MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome; Finding
4.

Hepatitis C

Hepatitis C is one type of hepatitis - a liver disease - caused by the hepatitis C virus (HCV). It usually spreads through contact with infected blood. It can also spread through sex with an infected person and from mother to baby during childbirth. Most people who are infected with hepatitis C don't have any symptoms for years. A blood test can tell if you have it. Usually, hepatitis C does not get better by itself. The infection can last a lifetime and may lead to scarring of the liver or liver cancer. Medicines sometimes help, but side effects can be a problem. Serious cases may need a liver transplant. There is no vaccine for HCV. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
42425
Concept ID:
C0019196
Disease or Syndrome
5.

Hepatitis

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. . Viruses cause most cases of hepatitis. The type of hepatitis is named for the virus that causes it; for example, hepatitis A, hepatitis B or hepatitis C. Drug or alcohol use can also cause hepatitis. In other cases, your body mistakenly attacks healthy cells in the liver. Some people who have hepatitis have no symptoms. Others may have. -Loss of appetite. -Nausea and vomiting. -Diarrhea. -Dark-colored urine and pale bowel movements. -Stomach pain. -Jaundice, yellowing of skin and eyes. Some forms of hepatitis are mild, and others can be serious. Some can lead to scarring, called cirrhosis, or to liver cancer. Sometimes hepatitis goes away by itself. If it does not, it can be treated with drugs. Sometimes hepatitis lasts a lifetime. Vaccines can help prevent some viral forms.  [from MedlinePlus]

MedGen UID:
5515
Concept ID:
C0019158
Disease or Syndrome
6.

Depression

MedGen UID:
881016
Concept ID:
CN236657
Disease or Syndrome
7.

Thrombocytopenia

MedGen UID:
472158
Concept ID:
CN130080
Disease or Syndrome
8.

Persistent hyperinsulinemic hypoglycemia of infancy

Familial hyperinsulinism (referred to as FHI in this GeneReview) is characterized by hypoglycemia that ranges from severe neonatal-onset, difficult-to-manage disease to childhood-onset disease with mild symptoms and difficult-to-diagnose hypoglycemia. Neonatal-onset disease manifests within hours to two days after birth. Childhood-onset disease manifests during the first months or years of life. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, and apnea. In severe cases, serum glucose concentrations are typically extremely low and thus easily recognized, whereas in milder cases, variable and mild hypoglycemia may make the diagnosis more difficult. Even within the same family, disease manifestations can range from mild to severe. Individuals with autosomal recessive familial hyperinsulinism, caused by pathogenic variants in either ABCC8 or KCNJ11 (FHI-KATP), tend to be large for gestational age and usually present with severe refractory hypoglycemia in the first 48 hours of life; affected infants usually respond only partially to diet or medical management (i.e., diazoxide therapy) and thus may require pancreatic resection. Individuals with autosomal dominant FHI-KATP tend to be appropriate for gestational age at birth, to present at approximately age one year (range: 2 days - 30 years), and to respond to diet and diazoxide therapy. Exceptions to both of these generalities have been reported. FHI-GCK, caused by pathogenic variants in GCK, may be much milder than FHI-KATP; however, some persons have severe, diazoxide-unresponsive hypoglycemia. FHI-HADH, caused by pathogenic variants in HADH, tends to be relatively mild, although severe cases have been reported. Individuals with FHI-HNF4A, caused by pathogenic variants in HNF4A, are typically born large for gestational age and have mild features that respond to diazoxide treatment. FHI-UCP2, caused by pathgoenic variants in UCP2, is a rare cause of diazoxide-responsive FH1. Hyperammonemia/hyperinsulinism (HA/HI) is associated with mild-to-moderate hyperammonemia and with relatively mild, late-onset hypoglycemia; most but not all affected individuals have pathogenic variants in GLUD1. [from GeneReviews]

MedGen UID:
226230
Concept ID:
C1257959
Disease or Syndrome
9.

Neutropenia

An abnormally low number of neutrophils in the peripheral blood. [from HPO]

MedGen UID:
163121
Concept ID:
C0853697
Finding
10.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

MedGen UID:
56401
Concept ID:
C0162119
Finding
11.

Depression

Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include : -Sadness. -Loss of interest or pleasure in activities you used to enjoy. -Change in weight. -Difficulty sleeping or oversleeping. -Energy loss. -Feelings of worthlessness. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants and talk therapy. Most people do best by using both. . NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
12.

Abnormality of the liver

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. . Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. .  [from MedlinePlus]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
13.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
14.

Abnormality of the gastrointestinal tract

When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. . Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. . There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have . -Blood in your stool. -Changes in bowel habits. -Severe abdominal pain. -Unintentional weight loss. -Heartburn not relieved by antacids. NIH: National Institute of Diabetes and Digestive and Kidney Diseases .  [from MedlinePlus]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
15.

ribavirin response - Efficacy

MedGen UID:
910383
Concept ID:
CN240603
Sign or Symptom
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