From HPO
B-cell chronic lymphocytic leukemia- MedGen UID:
- 44120
- •Concept ID:
- C0023434
- •
- Neoplastic Process
Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012).
Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia
Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559).
B-cell lymphoma- MedGen UID:
- 86953
- •Concept ID:
- C0079731
- •
- Neoplastic Process
A type of lymphoma that originates in B-cells.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Neurodevelopmental delay- MedGen UID:
- 868344
- •Concept ID:
- C4022738
- •
- Finding
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Autoimmunity- MedGen UID:
- 2136
- •Concept ID:
- C0004368
- •
- Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Decreased circulating IgA concentration- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Enlarged tonsils- MedGen UID:
- 78800
- •Concept ID:
- C0272386
- •
- Disease or Syndrome
Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.
Increased circulating IgM level- MedGen UID:
- 333454
- •Concept ID:
- C1839972
- •
- Finding
An abnormally increased level of immunoglobulin M in blood.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Persistent EBV viremia- MedGen UID:
- 767466
- •Concept ID:
- C3554552
- •
- Finding
Persistent presence of Epstein-Barr virus in the blood.
Increased proportion of transitional B cells- MedGen UID:
- 892766
- •Concept ID:
- C4072920
- •
- Finding
An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
Persistent CMV viremia- MedGen UID:
- 1696514
- •Concept ID:
- C5139221
- •
- Finding
Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.
Decreased proportion of naive CD8 T cells- MedGen UID:
- 1694295
- •Concept ID:
- C5139538
- •
- Finding
An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.
Decreased proportion of naive CD4 T cells- MedGen UID:
- 1705154
- •Concept ID:
- C5139539
- •
- Finding
An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.
Decreased circulating IgG concentration- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality
- Neoplasm