eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| purine nucleoside phosphorylase deficiency | ||||
| Disease ID | 531 |
|---|---|
| Disease | purine nucleoside phosphorylase deficiency |
| Definition | PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency. |
| Synonym | deficiency of inosine phosphorylase deficiency of purine-nucleoside phosphorylase deficiency of purine-nucleoside phosphorylase (disorder) np - nucleoside phosphorylase deficiency np deficiency nucleoside phophorylase deficiency nucleoside phosphorylase deficiency pnp - purine nucleoside phosphorylase deficiency pnp deficiency purine nucleoside phosphorylase deficiency (disorder) purine-nucleoside phosphorylase deficiency purine-nucleoside phosphorylase deficiency (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268125 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) |
| Locus | Symbol | Locus(Total Locus:1) PNP | 14q11.2 |
| Disease ID | 531 |
|---|---|
| Disease | purine nucleoside phosphorylase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0001973 | Autoimmune thrombocytopenia HP:0003537 | Low blood uric acid levels HP:0001888 | Lymphocytopenia HP:0001904 | Autoimmune neutropenia HP:0005409 | Markedly reduced T cell function HP:0001890 | Autoimmune hemolytic anemia HP:0004429 | Recurrent viral infections HP:0001251 | Ataxia HP:0002783 | Chronic lung infections HP:0001264 | Spastic diplegia HP:0001270 | Motor retardation HP:0001249 | Mental retardation HP:0000010 | Frequent urinary tract infections HP:0001252 | Hypotonia HP:0000388 | Otitis media HP:0005372 | Reduced B cell function HP:0002718 | Recurrent pyogenic infections HP:0002665 | Lymphoma HP:0000708 | Behavioral problems HP:0001508 | Weight faltering HP:0005318 | Cerebral vasculitis HP:0002788 | Recurrent upper respiratory infection HP:0001744 | Splenomegaly HP:0005390 | Recurrent opportunistic infections HP:0000246 | Sinus inflammation HP:0001337 | Tremor HP:0002090 | Pneumonia HP:0002273 | Tetraparesis HP:0002732 | Lymph node hypoplasia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 531 |
|---|---|
| Disease | purine nucleoside phosphorylase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894450 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20474870 | A | G |
| rs104894451 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20476432 | G | A,C |
| rs104894452 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20475175 | A | G |
| rs104894453 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20474555 | G | A |
| rs104894454 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20475120 | G | C,T |
| rs104894455 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20472366 | C | T |
| rs104894460 | NA | 4860 | PNP | umls:C0268125 | CLINVAR | NA | 0.561085767 | NA | PNP | 14 | 20472468 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001973 | Autoimmune thrombocytopenia | MP:0003179 | thrombocytopenia | fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0000388 | Otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0005409 | Markedly reduced T cell function | MP:0010186 | increased T follicular helper cell number | greater number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody p |
| HP:0002788 | Recurrent upper respiratory tract infections | MP:0010955 | abnormal respiratory electron transport chain | anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0002732 | Lymph node hypoplasia | MP:0008522 | abnormal lymph node germinal center morphology | any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plas |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002718 | Recurrent bacterial infections | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0005372 | Abnormality of B cell physiology | MP:0008182 | decreased marginal zone B cell number | reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL |
| HP:0004429 | Recurrent viral infections | MP:0009791 | increased susceptibility to viral infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002783 | Recurrent lower respiratory tract infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005390 | Recurrent opportunistic infections | MP:0013593 | enlarged thymus cortex | increased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000388 | Otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002732 | Lymph node hypoplasia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001264 | Spastic diplegia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003537 | Hypouricemia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0005318 | Cerebral vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002788 | Recurrent upper respiratory tract infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001904 | Autoimmune neutropenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005409 | Markedly reduced T cell function | MP:0011597 | decreased purine-nucleoside phosphorylase activity | reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0004429 | Recurrent viral infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002090 | Pneumonia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002273 | Tetraparesis | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0002718 | Recurrent bacterial infections | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0005372 | Abnormality of B cell physiology | MP:0011597 | decreased purine-nucleoside phosphorylase activity | reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate |
| HP:0001888 | Lymphopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001973 | Autoimmune thrombocytopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 531 |
|---|---|
| Disease | purine nucleoside phosphorylase deficiency |
| Case | (Waiting for update.) |