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Results: 18

1.

Rare hereditary hemochromatosis

Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease. [from ORDO]

MedGen UID:
798585
Concept ID:
CN201216
Disease or Syndrome
2.

Peginterferon alfa-2a response

PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection. IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro. Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV. In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy. IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy. Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 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/drug/PA164749390). [from PharmGKB]

MedGen UID:
776494
Concept ID:
CN184128
Sign or Symptom
3.

Hepatitis

Inflammation of the liver. [from HPO]

MedGen UID:
506667
Concept ID:
CN167841
Finding
4.

PORPHYRIA CUTANEA TARDA, TYPE I

De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007). [from OMIM]

MedGen UID:
357391
Concept ID:
C1867968
Disease or Syndrome
5.

Hemochromatosis type 2A

Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has not been reported. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced. [from GeneReviews]

MedGen UID:
356321
Concept ID:
C1865614
Disease or Syndrome
6.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
7.

Resistance to hepatitis C virus

MedGen UID:
332112
Concept ID:
C1836031
Finding
8.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
9.

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; and Non-expressing p.Cys282Tyr homozygotes in whom neither clinical manifestations of HFE-HH nor iron overload are 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
10.

Hepatic failure

severe inability of the liver to function normally, as evidenced by severe jaundice and abnormal levels of ammonia, bilirubin, alkaline phosphatase, glutamic oxaloacetic transaminase, lactic dehydrogenase, and reversal of the albumin/globulin ratio. [from CRISP]

MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
11.

Juvenile hemochromatosis

Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has not been reported. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced. [from GeneReviews]

MedGen UID:
82769
Concept ID:
C0268060
Disease or Syndrome
12.

Familial porphyria cutanea tarda

Type II porphyria cutanea tarda (type II PCT) is characterized by: Blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and An increased risk for hepatocellular carcinoma (HCC). Skin changes typically begin in the fourth or fifth decade of life. Disease manifestations are more common in men than women. Susceptibility factors (including excess hepatic iron, HFE mutations, alcohol consumption, infection with hepatitis C and/or human immunodeficiency viruses, oral estrogen use, smoking, and hepatotoxins [e.g., hexachlorobenzene]) play a significant role in development of clinical manifestations. [from GeneReviews]

MedGen UID:
75669
Concept ID:
C0268323
Disease or Syndrome
13.

Increased serum ferritin

MedGen UID:
69130
Concept ID:
C0241013
Finding
14.

Hepatoerythropoietic porphyria

Hepatoerythropoietic porphyria (HEP) is characterized by (1) blistering skin lesions, hypertrichosis, and scarring over the affected skin areas; and (2) no increased risk for hepatocellular carcinoma (HCC). Disease manifestations occur during infancy or childhood and with similar frequency in girls and boys. [from GeneReviews]

MedGen UID:
57940
Concept ID:
C0162569
Disease or Syndrome
15.

Porphyria cutanea tarda

An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form. [from MeSH]

MedGen UID:
56453
Concept ID:
C0162566
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. . 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.

Porphyria

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms. The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer. Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.
[from GHR]

MedGen UID:
10865
Concept ID:
C0032708
Disease or Syndrome
18.

Chronic hepatitis

INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors. [from MeSH]

MedGen UID:
9223
Concept ID:
C0019189
Disease or Syndrome

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