An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

Descriptor ID	D001260
MeSH Number(s)	C10.228.140.252.190.530.060 C10.562.100 C10.597.350.090.500.530.060 C14.907.823.213 C16.320.080 C18.452.284.060 C20.673.290
Concept/Terms	Ataxia Telangiectasia Ataxia Telangiectasia Ataxia-Telangiectasia Telangiectasia, Cerebello-Oculocutaneous Ataxia Telangiectasia Syndrome Syndrome, Ataxia Telangiectasia Louis-Bar Syndrome Louis Bar Syndrome Syndrome, Louis-Bar

Below are MeSH descriptors whose meaning is more general than "Ataxia Telangiectasia".

Below are MeSH descriptors whose meaning is related to "Ataxia Telangiectasia".

Below are MeSH descriptors whose meaning is more specific than "Ataxia Telangiectasia".