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Disease Ataxia Telangiectasia

Name Ataxia Telangiectasia
Synonyms AT | AT1 | ATA, INCLUDED | Ataxia-Telangiectasia | Ataxia Telangiectasia Syndrome | ATAXIA-TELANGIECTASIA VARIANT, INCLUDED | ATC, INCLUDED | AT, COMPLEMENTATION GROUP C, INCLUDED | AT, COMPLEMENTATION GROUP D, INCLUDED | AT, COMPLEMENTATION GROUP E, INCLUDED | ATD, INCLUDED | ATE, INCLUDED | Louis Bar Syndrome | Louis-Bar Syndrome | LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A, INCLUDED | Syndrome, Ataxia Telangiectasia | Syndrome, Louis-Bar | Telangiectasia, Cerebello-Oculocutaneous
Definition 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).
Categories Cardiovascular disease | Genetic disease (inborn) | Immune system disease | Metabolic disease | Nervous system disease
MeSH® ID D001260
OMIM® ID 208900
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Cerebellar Diseases Has associated chemicals Has associated genes Cerebellar Ataxia Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Ataxia Telangiectasia Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurocutaneous Syndromes Has associated chemicals Has associated genes Ataxia Telangiectasia Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Dyskinesias Has associated chemicals Has associated genes Has associated exposure references Ataxia Has associated chemicals Has associated genes Cerebellar Ataxia Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Ataxia Telangiectasia Has associated chemicals Has associated genes
4. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Telangiectasis Has associated chemicals Has associated genes Ataxia Telangiectasia Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Ataxia Telangiectasia Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references DNA Repair-Deficiency Disorders Has associated chemicals Has associated genes Ataxia Telangiectasia Has associated chemicals Has associated genes
7. DiseasesImmune System Diseases Has associated chemicals Has associated genes Has associated exposure references Immunologic Deficiency Syndromes Has associated chemicals Has associated genes Ataxia Telangiectasia Has associated chemicals Has associated genes

Top ↑ Descendants

Ataxia Telangiectasia Has associated chemicals Has associated genes
  Ataxia Telangiectasia Like Disorder Has associated chemicals Has associated genes
  Ataxia-Telangiectasia Variant
  Ataxia-Telangiectasia Variant V2
  Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death