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ataxia-telangiectasia-like disorder (ATLD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ataxia-telangiectasia-like disorder

MONDO:0011457

Also known as:ATLDataxia-telangiectasia-like disorder type 1ATLD1

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Overview

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.

OnsetADULT

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (6 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for ataxia-telangiectasia-like disorder. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Rayi A (2026). [PMID: 30725883](https://pubmed.ncbi.nlm.nih.gov/30725883/). *Unknown Journal*. [Review / Meta-Analysis]
DeFoer MB (2025). [PMID: 41075274](https://pubmed.ncbi.nlm.nih.gov/41075274/). *Human molecular genetics*. [Basic Science / Preclinical]
DeFoer MB (2025). [PMID: 40791546](https://pubmed.ncbi.nlm.nih.gov/40791546/). *bioRxiv : the preprint server for biology*. [Review / Meta-Analysis]
Hartlerode AJ (2024). [PMID: 38888340](https://pubmed.ncbi.nlm.nih.gov/38888340/). *Human molecular genetics*. [Basic Science / Preclinical]
Unknown (2024). [PMID: 39471321](https://pubmed.ncbi.nlm.nih.gov/39471321/). *Human molecular genetics*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ataxia-telangiectasia-like disorder

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team