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Items: 11

1.

Congenital hemolytic anemia

Hemolytic anemia due to various intrinsic defects of the erythrocyte. [from MeSH]

MedGen UID:
1919
Concept ID:
C0002881
Finding
2.

Congenital erythropoietic porphyria

Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity at birth or in early infancy with blistering and increased friability of the skin over light-exposed areas. The first manifestation is often pink to dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown color of the teeth (erythrodontia), and mild bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad, ranging from non-immune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood. [from NCBI]

MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
3.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
4.

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
5.

Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
1526
Concept ID:
C0002871
Finding
6.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis). [from HPO]

MedGen UID:
504983
Concept ID:
CN001698
Finding
7.

Anemia

A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen. [from NCI]

MedGen UID:
56401
Concept ID:
C0162119
Finding
8.

Hemolytic anemia

A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). [from MeSH]

MedGen UID:
1916
Concept ID:
C0002878
Finding
9.

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
10.

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
11.

Chester-type porphyria

MedGen UID:
82789
Concept ID:
C0268322
Disease or Syndrome
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