Ataxia-telangiectasia-like disorder 1

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;

Détails

Origin ID

604391;

UMLS CUI

C4012790;

Automatic exact mappings (from CISMeF team)
- MRE11 homolog, double strand break repair nuclease [ORDO Gene]
Currated CISMeF NLP mapping
- Ataxia-Telangiectasia-Like Disorder 1 [NCIt concept]
- Ataxia-telangiectasia-like disorder [ICD-11 More detail]
- Ataxia-telangiectasia-like disorder [ORDO Disease]
- Ataxia-telangiectasia-like disorder (disorder) [SNOMED CT concept]
- ataxia telangiectasia like disorder [MeSH Supplementary Concept]
- ataxia telangiectasia like disorder [MeSH concept]
Genes related to phenotype
- Mre11 homolog, double-strand break repair nuclease [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Chorea [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dystonia [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hypometric saccades [HPO term]
- Hyporeflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Increased sensitivity to ionizing radiation [HPO term]
- Lower limb spasticity [HPO term]
- Oculomotor apraxia [HPO term]
- Progressive [HPO term]
- Telangiectasia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Ataxia-telangiectasia-like disorder [ORDO Disease]
See also inter- (CISMeF)
- MRE11 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-Telangiectasia-Like Disorder 1 [NCIt concept]

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