PedAM

Pediatric Disease Annotations & Medicines


	purine nucleoside phosphorylase deficiency

Disease ID	295
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	ORPHANET:760
OMIM	OMIM:613179
DOID	DOID:5813
UMLS	C0268125
SNOMED-CT	SNOMEDCT_US_2016_09_01:60743005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0035333 \| retinitis \| 1 C0019360 \| zoster \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PNP \| 4860 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 158 \| ADSL \| DISEASES 191 \| AHCY \| DISEASES 5471 \| PPAT \| DISEASES 2065 \| ERBB3 \| DISEASES 5226 \| PGD \| DISEASES 3606 \| IL18 \| DISEASES 132 \| ADK \| DISEASES 1633 \| DCK \| DISEASES 3251 \| HPRT1 \| DISEASES 5896 \| RAG1 \| DISEASES 7275 \| TUB \| DISEASES 55 \| ACPP \| DISEASES 6241 \| RRM2 \| DISEASES 4860 \| PNP \| DISEASES 5631 \| PRPS1 \| DISEASES 100 \| ADA \| DISEASES 4878 \| NPPA \| DISEASES 353 \| APRT \| DISEASES 6736 \| SRY \| DISEASES 5634 \| PRPS2 \| DISEASES 3718 \| JAK3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PNP \| 14q11.2

Disease ID	295
Disease	purine nucleoside phosphorylase deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:29) HP:0002090 \| Pneumonia HP:0005318 \| Cerebral vasculitis HP:0001264 \| Spastic diplegia HP:0001973 \| Autoimmune thrombocytopenia HP:0001890 \| Autoimmune hemolytic anemia HP:0000246 \| Sinus inflammation HP:0001904 \| Autoimmune neutropenia HP:0001508 \| Weight faltering HP:0001270 \| Motor retardation HP:0005390 \| Recurrent opportunistic infections HP:0001888 \| Lymphocytopenia HP:0001251 \| Ataxia HP:0001249 \| Mental retardation HP:0001252 \| Hypotonia HP:0001744 \| Splenomegaly HP:0002788 \| Recurrent upper respiratory infection HP:0002732 \| Lymph node hypoplasia HP:0004429 \| Recurrent viral infections HP:0000708 \| Behavioral problems HP:0003537 \| Low blood uric acid levels HP:0002783 \| Chronic lung infections HP:0005372 \| Reduced B cell function HP:0000010 \| Frequent urinary tract infections HP:0002665 \| Lymphoma HP:0002718 \| Recurrent pyogenic infections HP:0000388 \| Otitis media HP:0002273 \| Tetraparesis HP:0005409 \| Markedly reduced T cell function HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0002721 \| Immunodeficiency \| 1

Disease ID	295
Disease	purine nucleoside phosphorylase deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1373218 \| immunosuppression C0042373 \| vascular disease C0038454 \| stroke C0023524 \| progressive multifocal leukoencephalopathy C0021051 \| immunodeficiency C0002880 \| autoimmune hemolytic anemia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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