Details of Disease

General Information of Disease (ID: DIS98DFM)

Disease Name Ataxia-telangiectasia-like disorder
Synonyms ATLD1; ataxia-telangiectasia-like disorder 1; ataxia-telangiectasia-like disorder type 1; ATLD; ataxia - telangiectasia-like disorder
Definition
An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.
Disease Hierarchy
DISPN7D2: Inherited neurodegenerative disorder
DIS98DFM: Ataxia-telangiectasia-like disorder
Disease Identifiers
MONDO ID
MONDO_0011457
UMLS CUI
C1858391
MedGen ID
348929
SNOMED CT ID
700058006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APTX OTPAS5G8 Strong Biomarker [1]
SETX OTG3JNOQ Strong Genetic Variation [2]
------------------------------------------------------------------------------------

References

1 Spinocerebellar ataxia with ocular motor apraxia and DNA repair.Neuropathology. 2006 Aug;26(4):361-7. doi: 10.1111/j.1440-1789.2006.00741.x.
2 Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27.