Ataxia pancytopenia syndrome

disorder

SNOMED 768556005CUI C1327919

Overview

Ataxia pancytopenia syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ataxia

Very frequent (80-99%)HP:0001251

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Degeneration of cerebellum

Very frequent (80-99%)HP:0001272

Gait disturbance

Very frequent (80-99%)HP:0001288

Unsteady walk

Very frequent (80-99%)HP:0002317

Abnormal macrophage morphology

Frequent (30-79%)HP:0004311

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of neutrophils

Frequent (30-79%)HP:0001874

Acute myelomonocytic leukaemia

Frequent (30-79%)HP:0004820

Hypoplastic anaemia

Frequent (30-79%)HP:0001908

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Large spleen

Frequent (30-79%)HP:0001744

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Abnormal platelet function

Occasional (5-29%)HP:0011869

Abnormality of the cerebral white matter

Occasional (5-29%)HP:0002500

Decreased serum immunoglobulin

Occasional (5-29%)HP:0004313

Decreased size of cranium

Occasional (5-29%)HP:0000252

Loss of distal sensation

Occasional (5-29%)HP:0002936

Pancytopenia

Occasional (5-29%)HP:0001876

Ankle clonus

HP:0011448

Decreased haemoglobin

HP:0001903

Decreased nerve conduction velocity

HP:0000762

Difficulty articulating speech

HP:0001260

Distal sensory loss, especially vibratory sense

HP:0002166

Dysmetria

HP:0001310

Extensor plantar responses

HP:0003487

Hyperactive deep tendon reflexes

HP:0006801

Low platelet count

HP:0001873

Neutropoenia

HP:0001875

Related Conditions

Hereditary ataxia(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary white blood cell disorder(parent)

Pancytopenia(parent)

Inherited platelet disorder(parent)

Cerebellar ataxia(parent)

Quick Facts

SNOMED CT: 768556005
UMLS CUI: C1327919
Fully Specified Name: Ataxia pancytopenia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.