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1.

Iron agent

A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN. [from MeSH]

MedGen UID:
137068
Concept ID:
C0302583
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
2.

Hemochromatosis

A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) [from MeSH]

MedGen UID:
5492
Concept ID:
C0018995
Disease or Syndrome
3.

Hereditary hemochromatosis

HFE-associated hereditary hemochromatosis (HFE-HH) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. The phenotypic spectrum of HFE-HH is now recognized to include: Those with clinical HFE-HH, in which manifestations of end-organ damage secondary to iron storage are present; Those with biochemical HFE-HH, in which the only evidence of iron overload is increased transferrin-iron saturation and increased serum ferritin concentration; Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE-HH nor iron overload is present. Clinical HFE-HH is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated individuals, early symptoms may include: abdominal pain, weakness, lethargy, and weight loss; the risk of cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE-HH is more common in men than women. [from GTR]

MedGen UID:
833595
Concept ID:
CN229568
Disease or Syndrome
4.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
5.

Hemochromatosis type 1

HFE-associated hereditary hemochromatosis (HFE-HH) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. The phenotypic spectrum of HFE-HH is now recognized to include: Those with clinical HFE-HH, in which manifestations of end-organ damage secondary to iron storage are present; Those with biochemical HFE-HH, in which the only evidence of iron overload is increased transferrin-iron saturation and increased serum ferritin concentration; Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE-HH nor iron overload is present. Clinical HFE-HH is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated individuals, early symptoms may include: abdominal pain, weakness, lethargy, and weight loss; the risk of cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE-HH is more common in men than women. [from GTR]

MedGen UID:
140272
Concept ID:
C0392514
Disease or Syndrome
6.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
7.

Congestive heart failure

Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. [from NCI]

MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
8.

Heart failure

A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. [from MeSH]

MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
9.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
10.

Cirrhosis, cryptogenic

Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue.In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice).People with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer). [from GTR]

MedGen UID:
82760
Concept ID:
C0267809
Disease or Syndrome
11.

Iron Overload

Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death. [from NCI]

MedGen UID:
79398
Concept ID:
C0282193
Disease or Syndrome
12.

Hepatitis C

A viral infection caused by the hepatitis C virus. [from NCI]

MedGen UID:
42425
Concept ID:
C0019196
Disease or Syndrome
13.

Hypertrophy

Abnormal enlargement of a body part or organ. [from NCI]

MedGen UID:
5703
Concept ID:
C0020564
Pathologic Function
14.

Hepatitis

INFLAMMATION of the LIVER. [from MeSH]

MedGen UID:
5515
Concept ID:
C0019158
Disease or Syndrome
15.

Fibrosis

Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [from MeSH]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
16.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
17.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
18.

liver transplantation

MedGen UID:
880996
Concept ID:
CN236686
Disease or Syndrome
19.

HEMOCHROMATOSIS, TYPE 1

MedGen UID:
854011
Concept ID:
C3469186
Disease or Syndrome
20.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
504826
Concept ID:
CN001275
Finding
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