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1.

Hemochromatosis

Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail. There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5492
Concept ID:
C0018995
Disease or Syndrome
2.

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 GeneReviews]

MedGen UID:
833595
Concept ID:
CN229568
Disease or Syndrome
3.

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 GeneReviews]

MedGen UID:
140272
Concept ID:
C0392514
Disease or Syndrome
4.

Risk factor

Something that increases the chance of developing a disease. Some examples of risk factors for cancer are age, a family history of certain cancers, use of tobacco products, being exposed to radiation or certain chemicals, infection with certain viruses or bacteria, and certain genetic changes. [from NCI_NCI-GLOSS]

MedGen UID:
48477
Concept ID:
C0035648
Finding
5.

Iron

Iron is a mineral that our bodies need for many functions. For example, iron is part of hemoglobin, a protein which carries oxygen from our lungs throughout our bodies. It helps our muscles store and use oxygen. Iron is also part of many other proteins and enzymes. Your body needs the right amount of iron. If you have too little iron, you may develop iron deficiency anemia. Causes of low iron levels include blood loss, poor diet, or an inability to absorb enough iron from foods. People at higher risk of having too little iron are young children and women who are pregnant or have periods. Too much iron can damage your body. Taking too many iron supplements can cause iron poisoning. Some people have an inherited disease called hemochromatosis. It causes too much iron to build up in the body. . Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
137068
Concept ID:
C0302583
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
6.

Diagnosis

Description:The source act is intended to help establish the presence of a (an adverse) situation described by the target act. This is not limited to diseases but can apply to any adverse situation or condition of medical or technical nature.  [from HL7]

MedGen UID:
8354
Concept ID:
C0011900
Finding
7.

Increased serum ferritin

Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. [from HPO]

MedGen UID:
892475
Concept ID:
C3854388
Disease or Syndrome
8.

Offered

MedGen UID:
731829
Concept ID:
C1444648
Finding
9.

Country of birth (finding)

MedGen UID:
721814
Concept ID:
C1300001
Finding
10.

High risk of

The potential future harm that may arise from some present action or attribute or condition is almost certain. [from NCI]

MedGen UID:
568174
Concept ID:
C0332167
Finding
11.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
12.

Increased serum ferritin

Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. [from HPO]

MedGen UID:
69130
Concept ID:
C0241013
Finding
13.

Multiple endocrine neoplasia

An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, and type 2B (MEN 2B) also caused by mutation of the RET gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
14.

Ferritin

a protein that stores iron [from CHV]

MedGen UID:
8817
Concept ID:
C0015879
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
15.

Iron Overload

A condition in which the body takes up and stores more iron than it needs. The extra iron is stored in the liver, heart, and pancreas, which may cause liver disease, heart problems, organ failure, and cancer. It may also cause bronze skin, diabetes, pain in the joints and abdomen, tiredness, and impotence. Iron overload may be inherited, or it may be caused by blood transfusions. [from NCI_NCI-GLOSS]

MedGen UID:
79398
Concept ID:
C0282193
Disease or Syndrome
16.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
17.

Disorder of iron metabolism

Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) [from MeSH]

MedGen UID:
8438
Concept ID:
C0012715
Disease or Syndrome
18.

Metal Metabolism, Inborn Errors

Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6325
Concept ID:
C0025534
Disease or Syndrome
19.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
20.

Elevated hepatic iron concentration

An increased level of iron in liver tissues. [from HPO]

MedGen UID:
868497
Concept ID:
C4022891
Finding
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