- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:153600)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. (PMID:26244327)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: TAS. (OMIM:153600)
- Impaired phytohemagglutinin-induced T lymphocyte transformation (HP:0025834): Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal. Evidence: IEA. (OMIM:153600)
- Monoclonal elevation of circulating IgM concentration (HP:0005508): Presence of a monoclonal immunoglobulin M protein in the serum. Evidence: IEA. (OMIM:153600)
- Polyclonal elevation of circulating IgM concentration (HP:0003459): A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. Evidence: IEA. (OMIM:153600)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:153600)
These phenotypes are associated with the disease macroglobulinemia, Waldenstrom, 1 (OMIM:153600).