Purine nucleoside phosphorylase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Nucleoside phosphorylase deficiency
PNP deficiency
Number of Symptoms 69
OrphanetNr: 760
OMIM Id: 613179
ICD-10: D81.5
UMLs: C0268125
MeSH:
MedDRA:
Snomed: 60743005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
1384322 [IBIS]
Age of onset: Infancy
Childhood
23371835 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Disorder of purine metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (MedDRA:10035742) Pneumonitis 24767876 IBIS 2 / 7739
2
 (MedDRA:10058990) Venous occlusion 24767876 IBIS 1 / 7739
3
 (HPO:0001508) Failure to thrive 23371835; 24767876 IBIS 454 / 7739
4
 (HPO:0008936) Muscular hypotonia of the trunk 24767876 IBIS 77 / 7739
5
 (HPO:0002061) Lower limb spasticity 24767876 IBIS 56 / 7739
6
 (HPO:0006538) Recurrent bronchopulmonary infections 24767876 IBIS 6 / 7739
7
 (HPO:0012191) B-cell lymphoma 24767876 IBIS 5 / 7739
8
 (HPO:0001973) Autoimmune thrombocytopenia 24767876 IBIS 18 / 7739
9
 (HPO:0011108) Recurrent sinusitis 24767876 IBIS 30 / 7739
10
 (HPO:0100021) Cerebral palsy 24767876 IBIS 36 / 7739
11
 (HPO:0012433) Abnormal social behavior 24767876 IBIS 7 / 7739
12
 (HPO:0002110) Bronchiectasis 24767876 IBIS 73 / 7739
13
 (HPO:0002788) Recurrent upper respiratory tract infections 24767876 IBIS 31 / 7739
14
 (HPO:0001249) Intellectual disability 24767876 IBIS 1089 / 7739
15
 (HPO:0001270) Motor delay 8931706; 24767876 IBIS 322 / 7739
16
 (HPO:0006532) Recurrent pneumonia 24767876 IBIS 48 / 7739
17
 (HPO:0011935) Decreased urinary urate 24767876 IBIS 2 / 7739
18
 (HPO:0001888) Lymphopenia 24767876 IBIS 43 / 7739
19
 (HPO:0000403) Recurrent otitis media 24767876 IBIS 61 / 7739
20
 (HPO:0001878) Hemolytic anemia 23371835; 11453975 IBIS 83 / 7739
21
 (HPO:0002090) Pneumonia 8931706; 11453975 IBIS 59 / 7739
22
 (HPO:0040088) Abnormal lymphocyte count 11453975 IBIS 3 / 7739
23
 (HPO:0000750) Delayed speech and language development 11453975 IBIS 197 / 7739
24
 (HPO:0010862) Delayed fine motor development 11453975 IBIS 3 / 7739
25
 (HPO:0001251) Ataxia 11453975 IBIS 413 / 7739
26
 (HPO:0012410) Pure red cell aplasia 11453975 IBIS 1 / 7739
27
 (MedDRA:10057343) Parvovirus infection 11453975 IBIS 1 / 7739
28
 (HPO:0002194) Delayed gross motor development 11453975 IBIS 37 / 7739
29
 (HPO:0002665) Lymphoma 8931706 IBIS 60 / 7739
30
 (HPO:0002028) Chronic diarrhea 8931706 IBIS 51 / 7739
31
 (HPO:0100806) Sepsis 8931706 IBIS 48 / 7739
32
 (HPO:0002837) Recurrent bronchitis 8931706 IBIS 21 / 7739
33
 (HPO:0000238) Hydrocephalus 23371835 IBIS 278 / 7739
34
 (HPO:0012444) Brain atrophy 23371835 IBIS 24 / 7739
35
 (HPO:0011227) Elevated C-reactive protein level 23371835 IBIS 55 / 7739
36
 (HPO:0002910) Elevated hepatic transaminases 23371835 IBIS 158 / 7739
37
 (HPO:0001263) Global developmental delay 23371835 IBIS 853 / 7739
38
 (HPO:0006829) Severe muscular hypotonia 23371835 IBIS 29 / 7739
39
 (HPO:0009098) Chronic oral candidiasis 23371835 IBIS 5 / 7739
40
 (HPO:0030813) Absent tonsils 23371835 IBIS 1 / 7739
41
 (HPO:0002732) Lymph node hypoplasia 23371835 IBIS 3 / 7739
42
 (HPO:0001510) Growth delay 23371835 IBIS 295 / 7739
43
 (HPO:0002098) Respiratory distress 23371835 IBIS 75 / 7739
44
 (HPO:0001945) Fever 23371835 IBIS 218 / 7739
45
 (HPO:0002014) Diarrhea 23371835 IBIS 225 / 7739
46
 (HPO:0002205) Recurrent respiratory infections 23371835 IBIS 254 / 7739
47
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
48
 (HPO:0000246) Sinusitis 73 / 7739
49
 (HPO:0000388) Otitis media 28 / 7739
50
 (HPO:0002273) Tetraparesis 15 / 7739
51
 (HPO:0001276) Hypertonia 317 / 7739
52
 (HPO:0000708) Behavioral abnormality 212 / 7739
53
 (HPO:0001337) Tremor 200 / 7739
54
 (HPO:0001264) Spastic diplegia 24 / 7739
55
 (HPO:0001744) Splenomegaly 337 / 7739
56
 (HPO:0005318) Cerebral vasculitis 2 / 7739
57
 (HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
58
 (HPO:0005409) Markedly reduced T cell function 1 / 7739
59
 (HPO:0005372) Abnormality of B cell physiology 2 / 7739
60
 (HPO:0001904) Autoimmune neutropenia 5 / 7739
61
 (HPO:0003537) Hypouricemia 13 / 7739
62
 (HPO:0002783) Recurrent lower respiratory tract infections 8 / 7739
63
 (HPO:0004429) Recurrent viral infections 20 / 7739
64
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
65
 (HPO:0005390) Recurrent opportunistic infections 4 / 7739
66
 (HPO:0010547) Muscle flaccidity 466 / 7739
67
 (HPO:0001324) Muscle weakness 859 / 7739
68
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
69
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

PNP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Hagberg et al. (1970) described brother and sister with ataxic diplegia and defective cellular immunity. At age 15 months, the sister had vaccinia gangrenosa, which was successfully drug-treated. She died of generalized varicella at age 4.5 years. The brother ...
Molecular genetics OMIM In a patient with nucleoside phosphorylase deficiency, Williams et al. (1987) identified a homozygous mutation in the PNP gene (E89K; 164050.0001).

Aust et al. (1992) identified compound heterozygosity for 2 mutations in the PNP gene (D128G, 164050.0003; ...