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Purine-nucleoside phosphorylase deficiency

disorder
SNOMED 60743005CUI C0268125

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased mitogen-induced T-cell proliferation
Always present (100%)HP:0031381
Delayed gross motor development
Always present (100%)HP:0002194
Elevated urinary guanosine level
Always present (100%)HP:0040424
Elevated urinary inosine level
Always present (100%)HP:0040422
Red cell aplasia
Always present (100%)HP:0012410
Cellular immune defect
Very frequent (80-99%)HP:0002843
Decreased urinary urate
Very frequent (80-99%)HP:0011935
Autoimmune disorder
Frequent (30-79%)HP:0002960
Autoimmune haemolytic anemia
Frequent (30-79%)HP:0001890
Brain and/or spinal cord issue
Frequent (30-79%)HP:0000707
Humoral immunodeficiency
Frequent (30-79%)HP:0005363
Low blood uric acid levels
Frequent (30-79%)HP:0003537
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Severe combined immunodeficiency
Frequent (30-79%)HP:0004430
Susceptibility to infection
Frequent (30-79%)HP:0002719
Unusual GI infection
Frequent (30-79%)HP:0032166
Abnormal central motor function
Occasional (5-29%)HP:0011442
Absolute lymphocyte count decrease
Occasional (5-29%)HP:0001888
Ataxia
Occasional (5-29%)HP:0001251
Behavioural/Psychiatric abnormality
Occasional (5-29%)HP:0000708
Cancer
Occasional (5-29%)HP:0002664
CP
Occasional (5-29%)HP:0100021
hyperkinetic disorder
Occasional (5-29%)HP:0000752
Hypertonia
Occasional (5-29%)HP:0001276
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Mental and motor retardation
Occasional (5-29%)HP:0001263
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Reduced number of T cells
Occasional (5-29%)HP:0005403
Spastic paraparesis
Occasional (5-29%)HP:0002313

Related Conditions

Enzymopathy(parent)
Disorder of purine metabolism(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital immunodeficiency disease(parent)

Quick Facts

SNOMED CT
60743005
UMLS CUI
C0268125
Fully Specified Name
Purine-nucleoside phosphorylase deficiency (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.