Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

ataxia-telangiectasia-like disorder 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ataxia-telangiectasia-like disorder 1

MONDO:0024557

Also known as:MRE11 ataxia - telangiectasia-like disorderataxia - telangiectasia-like disorder caused by mutation in MRE11ATLD1

Overview

Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.

GeneticsAutosomal recessive · MRE11 (chr 11)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Unsteady gait; and very common findings: Ataxia. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Dystonia, Gait ataxia, Ataxia
Eyes

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MRE11 encodes MRE11 double strand break repair nuclease (708 aa). Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. Highest expression in Cells EBV-transformed lymphocytes (22.2 TPM) and Nerve Tibial (16.4 TPM).

Ataxia-telangiectasia-like disorder 1 is associated with mutations in the MRE11 gene on chromosome 11.

The MRE11 protein participates in MRN bound to shortened telomeres activates ATM and MRN recruits LIG3:XRCC1 to MMEJ sites pathways.

MRE11 is classified as a druggable target (Clinically Actionable, Dna Repair, and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for MRE11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 20 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

No clinical trials have been registered for ataxia-telangiectasia-like disorder 1.

4 publications have been identified in PubMed for ataxia-telangiectasia-like disorder 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

Westover KR (2026). [PMID: 41544707](https://pubmed.ncbi.nlm.nih.gov/41544707/). *J Biol Chem*. [Basic Science / Preclinical]
DeFoer MB (2025). [PMID: 40791546](https://pubmed.ncbi.nlm.nih.gov/40791546/). *bioRxiv*. [Basic Science / Preclinical]
DeFoer MB (2025). [PMID: 41075274](https://pubmed.ncbi.nlm.nih.gov/41075274/). *Hum Mol Genet*. [Basic Science / Preclinical]
Hartlerode AJ (2024). [PMID: 38888340](https://pubmed.ncbi.nlm.nih.gov/38888340/). *Hum Mol Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604391

Orphanet

European rare disease database

Orphanet:251347

GARD

Genetic and Rare Diseases Info Center

GARD:17209

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

ataxia-telangiectasia-like disorder 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features