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ataxia-pancytopenia syndrome

MeSH: C563233ORPHA: 2585

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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-pancytopenia syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyNystagmusAtaxiaCerebellar atrophyGait disturbanceHyperreflexiaSplenomegalyAbnormality of neutrophilsPancytopeniaHypoplastic anemiaAbnormal speech patternRecurrent respiratory infectionsUnsteady gaitAbnormal macrophage morphologyDecreased circulating immunoglobulin concentrationAcute myelomonocytic leukemiaAplasia/Hypoplasia of the cerebellumAbnormal platelet function

Classification & Codes

MeSH Code

C563233

Orphanet Code

ORPHA:2585
ataxia-pancytopenia syndrome
MeSHC563233
OrphanetORPHA:2585
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO