Purine nucleoside phosphorylase deficiency

Preferred Label : Purine nucleoside phosphorylase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nucleoside phosphorylase deficiency;

Description : Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the purine nucleoside phosphorylase gene (PNP, 164050.0001);

Neoplasia : Lymphoma; Lymphosarcoma;

Laboratory abnormalities : Reduced erythrocyte purine nucleoside phosphorylase activity; Low serum uric acid; Low urine uric acid; High serum inosine levels; High serum guanosine levels; High urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine;

Prefixed ID : #613179;

Details

Origin ID

613179;

UMLS CUI

C0268125;

Currated CISMeF NLP mapping
- Immunodeficiency due to purine nucleoside phosphorylase deficiency [ICD-11 More detail]
- Purine Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine nucleoside phosphorylase [PNP] deficiency [ICD-10 Sub-category]
- Purine nucleoside phosphorylase deficiency [ORDO Disease]
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]
DO Cross reference
- purine nucleoside phosphorylase deficiency [DO Concept]
Genes related to phenotype
- Purine nucleoside phosphorylase [OMIM gene]
HPO term(s)
- Abnormality of B cell physiology [HPO term]
- Ataxia [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cerebral vasculitis [HPO term]
- Decreased lymphocyte proliferation in response to mitogen [HPO term]
- Delayed gross motor development [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Hypouricemia [HPO term]
- Idiopathic thrombocytopenia [HPO term]
- Impaired T cell function [HPO term]
- Increased circulating guanosine concentration [HPO term]
- Increased circulating inosine concentration [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lymph node hypoplasia [HPO term]
- Lymphoma [HPO term]
- Lymphopenia [HPO term]
- Motor delay [HPO term]
- Neutropenia in presence of anti-neutropil antibodies [HPO term]
- Otitis media [HPO term]
- Pneumonia [HPO term]
- Pure red cell aplasia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent opportunistic infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Recurrent viral infections [HPO term]
- Sinusitis [HPO term]
- Spastic diplegia [HPO term]
- Splenomegaly [HPO term]
- Tetraparesis [HPO term]
- Tremor [HPO term]
- Urinary tract infections [HPO term]
ORDO concept(s)
- Purine nucleoside phosphorylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency due to purine nucleoside phosphorylase deficiency [ICD-11 More detail]
- Purine Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine nucleoside phosphorylase [PNP] deficiency [ICD-10 Sub-category]
- Purine nucleoside phosphorylase deficiency [ORDO Disease]
- Purine nucleoside phosphorylase deficiency [MedDRA Preferred Term]
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]

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