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1.

MLL Partial Tandem Duplication

A chromosomal rearrangement where exons 5 through 11 or 5 through 12 of the MLL gene are duplicated and inserted upstream of exon 4 of the gene. This duplication results in transcripts and proteins that have the N-terminal region, which contains the AT hook DNA-binding motifs, and the transcriptional repression domain duplicated. This mutation is associated with myelodysplastic syndrome (MDS) and susceptibility of MDS progression to acute myeloid leukemia. [from NCI]

MedGen UID:
821749
Concept ID:
C3829001
Cell or Molecular Dysfunction
2.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. [from NCI]

MedGen UID:
59964
Concept ID:
C0205161
Finding
3.

Stress

The negative mental, emotional, and physical reactions that occur when environmental stressors are perceived as exceeding the individual's adaptive capacities. [from NCI]

MedGen UID:
20971
Concept ID:
C0038435
Finding
4.

Clonal Evolution

The process by which a normal cell accumulates genetic changes that allow it to become a tumor-causing cell and furthers its development to more malignant states. [from NCI]

MedGen UID:
273181
Concept ID:
C1516669
Neoplastic Process
5.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

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 GTR]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
7.

Lymphoid leukemia

A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. [from NCI]

MedGen UID:
9728
Concept ID:
C0023448
Neoplastic Process
8.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. [from HPO]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
9.

Myeloid leukemia

A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. [from NCI]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
10.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
11.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
12.

Improved

Condition changed and/or recovered [from CCC]

MedGen UID:
512204
Concept ID:
C0184511
Finding
13.

Acute myeloid leukemia

A form of leukemia characterized by overproduction of an early myeloid cell. [from HPO]

MedGen UID:
505691
Concept ID:
CN004254
Finding
14.

Myelodysplasia

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [from HPO]

MedGen UID:
483005
Concept ID:
C3463824
Neoplastic Process
15.

Myelodysplasia

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [from HPO]

MedGen UID:
343695
Concept ID:
C1851971
Finding
16.

Transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
17.

Spinocerebellar ataxia 1

Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of up-gaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy. [from GTR]

MedGen UID:
155703
Concept ID:
C0752120
Disease or Syndrome
18.

Acute

Sudden appearance of disease manifestations over a short period of time. [from HPO]

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
19.

Myelodysplastic syndrome

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). [from GTR]

MedGen UID:
44547
Concept ID:
C0026986
20.

Myelodysplasia

MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
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