ataxia telangiectasia
Findings
No curated finding names ataxia telangiectasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
Definition from the Mondo Disease Ontology (MONDO:0008840), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
52 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 104 of 104 reported patients
- Very frequent (80% to 99% of cases)
- Conjunctival telangiectasiaHPOHP:0000524
- 2 of 2 reported patients · Childhood onset
- DysarthriaHPOHP:0001260
- 104 of 104 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 2 of 2 reported patients
- Progressive cerebellar ataxiaHPOHP:0002073
- 2 of 2 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 2 of 2 reported patients
Show the remaining 40
- Aplasia/Hypoplasia of the thymusHPOHP:0010515
- Very frequent (80% to 99% of cases)
- Cellular immunodeficiencyHPOHP:0005374
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATMHGNC:795
- Definitive · Ambry Genetics · Autosomal recessive · 2015
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
3 names
Resolves to: ataxia telangiectasia
- Also called
- ataxia - telangiectasiaataxia telangiectasia syndromeLouis-Bar syndrome