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Items: 20

1.

Polycythemia vera

Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005). [from OMIM]

MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
2.

Polycythaemia

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
3.

Essential thrombocythemia

Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). Genetic Heterogeneity of Thrombocythemia THCYT2 (601977) is caused by germline or somatic mutation in the THPO receptor gene (MPL; 159530) on chromosome 1p34; THCYT3 (614521) is caused by germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p; and a possible X-linked form (THCYTX; 300331) has been reported. Somatic mutations in the TET2 (612839), ASXL1 (612990), SH2B3 (605093), and SF3B1 (605590) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (109091) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013). [from OMIM]

MedGen UID:
11797
Concept ID:
C0040028
Disease or Syndrome
4.

Myelofibrosis

Replacement of bone marrow by fibrous tissue. [from HPO]

MedGen UID:
506636
Concept ID:
CN167700
Finding
5.

Polycythemia

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

MedGen UID:
504995
Concept ID:
CN001719
Finding
6.

Thrombocytosis

Increased numbers of platelets in the peripheral blood. [from HPO]

MedGen UID:
504993
Concept ID:
CN001712
Finding
7.

Thrombocytosis

Increased numbers of platelets in the peripheral blood. [from HPO]

MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
8.

Myelofibrosis with myeloid metaplasia

Replacement of bone marrow by fibrous tissue. [from HPO]

MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
9.

Myelofibrosis

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
[from GHR]

MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
10.

Thrombosis

The formation or presence of a thrombus (blood clot) inside a blood vessel. [from NCI]

MedGen UID:
21160
Concept ID:
C0040053
Pathologic Function
11.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
12.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
13.

primary myelofibrosis

MedGen UID:
851269
Concept ID:
CN232337
Finding
14.

Platelet membrane fluidity

MedGen UID:
401393
Concept ID:
C1868201
Finding
15.

Abetalipoproteinaemia

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from OMIM]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
16.

Myeloproliferative disorder

Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. [from HPO]

MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
17.

Abnormality of blood and blood-forming tissues

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include. -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.  [from MedlinePlus]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
18.

Bone marrow disorder

Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. . If you have a bone marrow disease, there are problems with the stem cells or how they develop. Leukemia is a cancer in which the bone marrow produces abnormal white blood cells. With aplastic anemia, the bone marrow doesn't make red blood cells. Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells. Other causes of bone marrow disorders include your genetic makeup and environmental factors. Symptoms of bone marrow diseases vary. Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions or a bone marrow transplant. .  [from MedlinePlus]

MedGen UID:
2311
Concept ID:
C0005956
Disease or Syndrome
19.

Blood Coagulation Disorders

Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system [from SNOMED CT]

MedGen UID:
604
Concept ID:
C0005779
Disease or Syndrome
20.

Thrombocythemia 3

Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). [from OMIM]

MedGen UID:
482755
Concept ID:
C3281125
Disease or Syndrome
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