Details of Disease

General Information of Disease (ID: DISKHZ2U)

Disease Name Ataxia-telangiectasia-like disorder 1
Synonyms
ATLD1; Atld; MRE11 ataxia - telangiectasia-like disorder; ataxia - telangiectasia-like disorder caused by mutation in MRE11; ataxia-telangiectasia-like disorder caused by mutation in MRE11; MRE11 ataxia-telangiectasia-like disorder; ataxia-telangiectasia-like disorder 1
Definition Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.
Disease Hierarchy
DIS98DFM: Ataxia-telangiectasia-like disorder
DISKHZ2U: Ataxia-telangiectasia-like disorder 1
Disease Identifiers
MONDO ID
MONDO_0024557
UMLS CUI
C4012790
OMIM ID
604391
MedGen ID
861227
Orphanet ID
251347

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APTX OTPAS5G8 Strong Biomarker [1]
SETX OTG3JNOQ Strong Genetic Variation [2]
MRE11 OTGU8TZM Definitive Autosomal recessive [3]
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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.
3 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999 Dec 10;99(6):577-87. doi: 10.1016/s0092-8674(00)81547-0.