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Items: 8

1.

Thrombocytosis

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

MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
2.

Acute megakaryoblastic leukemia

A progressive, proliferative disease of blood cells, originating from immature megakaryocytes. [from NCI]

MedGen UID:
44124
Concept ID:
C0023462
Neoplastic Process
3.

Acute myeloid leukemia

CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadic CEBPA-associated AML is defined as AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. Too few individuals with CEBPA-associated familial AML have been reported to be certain about the natural history of the disease. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age 1.8 years and older than age 45 years. The prognosis of CEBPA-associated familial AML appears to be favorable compared with sporadic CEBPA-associated AML. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes in addition to the risk of relapse due to preexisting clones. [from GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
4.

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
5.

Myeloid leukemia

A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. [from HPO]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
6.

Acute megakaryoblastic leukemia

Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML; see this term) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis (see this term)may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. [from ORDO]

MedGen UID:
799743
Concept ID:
CN205208
Finding
7.

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
8.

Leukemia

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
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