Immunodeficiency associated with DNA repair defects [DS:H00094] Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725] Ataxia with ocular apraxia [DS:H00848] Spinocerebellar degeneration [DS:H01616]
Description
Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.
Category
Immune system disease; Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H00064 Ataxia telangiectasia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H00064 Ataxia telangiectasia
Chronic lymphocytic leukemia (CLL) is caused by the abnormal progressive accumulation of functionally incompetent monoclonal B-lymphocytes in blood, bone marrow, lymph nodes and spleen. It is the most common adult leukemia in Western countries, accounting for about 30% of total leukaemias. Worldwide there are approximately 180,000 new cases every year. A main focus in CLL research involved the evaluation of genetic features related to somatic gene mutation or deletions that disrupt apoptosis and enhance tumor cell proliferation. The best characterized genes are TP53 (also known as p53) and ATM, for which mutations and/or deletions have been described that predict rapid disease progression, resistance to conventional therapies and poor survival.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Neoplasms of haematopoietic or lymphoid tissues
Mature B-cell neoplasms
2A82 Mature B-cell neoplasm with leukaemic behaviour
H00005 Chronic lymphocytic leukemia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H00005 Chronic lymphocytic leukemia
Tumor markers [br08442.html]
H00005
Cancer-associated carbohydrates [br08441.html]
H00005
