ataxia telangiectasia
ICD-10: G11.3MeSH: D001260ORPHA: 100
Overview
a rare, neurodegenerative, autosomal recessive human disease causing severe disability
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ataxia telangiectasia, sourced from HPO and Orphanet clinical annotations.
Abnormal testis morphologyPolycystic ovariesStrabismusAbnormality of eye movementNystagmusDiabetes mellitusDelayed pubertySeizureAtaxiaSpasticityDysarthriaGait disturbanceTremorFailure to thriveDecreased total lymphocyte countAbnormal speech patternRecurrent respiratory infectionsPremature graying of hairNeoplasmAbnormality of the immune systemImmunodeficiencyElevated circulating hepatic transaminase concentrationSkeletal muscle atrophyAbnormality of chromosome stabilityDecreased circulating immunoglobulin concentrationShort statureCellular immunodeficiencyHypopigmentation of hairType II diabetes mellitusPrematurely aged appearanceMultiple cafe-au-lait spotsAplasia/Hypoplasia of the skinAplasia/Hypoplasia of the thymusAbnormality of movementCognitive impairmentMucosal telangiectasiaeTelangiectasia of the skinThymic hypoplasia
Classification & Codes
ICD-10 Code
G11.3MeSH Code
D001260Orphanet Code
ORPHA:100ataxia telangiectasia
| ICD-10 | G11.3 |
| MeSH | D001260 |
| Orphanet | ORPHA:100 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO