" /> Ataxia-telangiectasia-like disorder 1 - CISMeF





Preferred Label : Ataxia-telangiectasia-like disorder 1;

Symbol : ATLD1;

CISMeF acronym : ATLD; ATLD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ATLD;

Description : Ataxia-telangiectasia-like disorder is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD (summary by Hernandez et al., 1993 and Stewart et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. Cerevisiae meiotic recombination 11 A gene (MRE11A, 600814.0001);

Laboratory abnormalities : Cells show increased sensitivity to ionizing radiation; Defective DNA repair; Chromosomal instability;

Prefixed ID : #604391;

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02/05/2025


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