Nucleoside Phosphorylase Deficiency malady

Genetics Home Reference: Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Infants with SCID typically grow much more slowly than healthy children and experience pneumonia, chronic diarrhea, and widespread skin rashes. Without successful treatment to restore immune function, children with SCID usually do not survive past early childhood.¹⁷

MalaCards: Nucleoside Phosphorylase Deficiency, also known as purine-nucleoside phosphorylase deficiency, is related to hypouricemia and purine nucleoside phosphorylase deficiency. An important gene associated with Nucleoside Phosphorylase Deficiency is PNP (purine nucleoside phosphorylase), and among its related pathways are Pentose phosphate pathway and Purine metabolism. The compounds 2,2-difluorodeoxyguanosine and 9-deazaguanine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and t cells, and related mouse phenotype renal/urinary system.

nucleoside phosphorylase deficiency 7 purine-nucleoside phosphorylase deficiency 43

Diseases related to nucleoside phosphorylase deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 51)

id	Related Disease	Score	Top Affiliating Genes
1	hypouricemia	31.5	HPRT1, PNP
2	purine nucleoside phosphorylase deficiency	30.8	APRT, ADA, ADK, FAS, LOC647275, HPRT1
3	lymphopenia	29.3	ADA, PNP, FAS
4	common variable immunodeficiency	29.2	ADA, PNP, FAS
5	immunodeficiency	29.2	ADA, ADK, DCK, DGUOK, AHCY, PNP
6	adenosine deaminase deficiency	28.6	ADA, ADK, DCK, AHCY, PNP
7	mitochondrial dna depletion myopathy	13.2	DCK, DGUOK
8	nezelof syndrome	13.2	PNP, DGUOK
9	adenine phosphoribosyltransferase deficiency	13.1	HPRT1, APRT
10	hypermethioninemia	12.9	AHCY, ADK
11	phosphoribosylpyrophosphate synthetase superactivity	12.9	PRPS1, HPRT1
12	macroglobulinemia	12.7	DGUOK, DCK, ADA
13	purine-pyrimidine metabolic disorder	12.7	ADA, HPRT1, APRT
14	bcg infection	12.7	FAS, ADA
15	bilirubin metabolic disorder	12.7	ADA, PNP, APRT
16	combined immunodeficiency	12.7	PNP, AHCY, ADA
17	severe combined immunodeficiency	12.6	ADA, AHCY, PNP
18	autoimmune thyroiditis	12.6	DCK, PNP, FAS
19	urolithiasis	12.6	PRPS1, HPRT1, APRT
20	cutaneous t cell lymphoma	12.6	ADA, PNP, FAS
21	hematologic cancer	12.6	ADA, DCK, DGUOK, PNP
22	cutaneous leishmaniasis	12.5	FAS, PNP, ADA
23	adult t-cell leukemia	12.4	ADA, PNP, FAS
24	hairy cell leukemia	12.4	DCK, ADA
25	acute lymphoblastic leukemia	12.3	ADA, DCK, PNP, HPRT1
26	mayer-rokitansky-kuster-hauser syndrome	12.3	ADA, PNP, HPRT1, APRT
27	gout	12.2	PRPS1, PNP, HPRT1, APRT
28	non-hodgkin lymphoma	12.1	ADA, PNP, HPRT1, FAS
29	t-cell leukemia	12.1	ADA, PNP, FAS
30	xeroderma pigmentosum	12.1	APRT, FAS, HPRT1, ADA
31	down syndrome	11.9	HPRT1, AHCY, DCK, ADA
32	acute leukemia	11.8	DCK, PNP, HPRT1, FAS
33	acute myeloid leukemia	11.7	ADA, DCK, AHCY, PNP, FAS
34	lesch-nyhan syndrome	11.5	APRT, HPRT1, PNP, PRPS1, PRPS2
35	lymphoblastic leukemia	11.5	ADA, DCK, DGUOK, PNP, HPRT1, FAS
36	chronic lymphocytic leukemia	11.4	ADA, ADK, DCK, DGUOK, PNP, FAS
37	hyperuricemia	11.4	ADA, PRPS2, PRPS1, HPRT1, APRT
38	colon carcinoma	11.2	ADA, ADK, DCK, PNP, HPRT1, FAS
39	glioblastoma	11.2	ADA, ADK, DCK, FAS, APRT
40	anemia	11.2	ADA, ADK, AHCY, HPRT1, FAS, APRT
41	pneumonia	11.0	ADA, PRPS2, PRPS1, PNP, HPRT1, APRT
42	lymphocytic leukemia	11.0	ADA, ADK, DCK, DGUOK, PNP, HPRT1
43	neuroblastoma	10.9	ADA, ADK, DCK, AHCY, PNP, HPRT1
44	leukemia	10.2	ADA, ADK, DCK, DGUOK, AHCY, PNP
45	colorectal cancer	9.9	ADA, ADK, PRPS2, PRPS1, AHCY, HPRT1
46	tuberculosis	9.6	ADA, ADK, PRPS2, PRPS1, AHCY, PNP
47	immunodeficiency due to purine nucleoside phosphorylase deficiency	7.9
48	paraplegia	7.9
49	spastic paraplegia	7.9
50	spasticity	7.9

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to nucleoside phosphorylase deficiency:

²²

MGI Mouse Phenotypes related to nucleoside phosphorylase deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.5	APRT, FAS, HPRT1, PNP, ADA

Articles related to nucleoside phosphorylase deficiency:

(show all 27)

id	Title	Authors	Year	Affiliating Genes
1	Purine nucleoside phosphorylase deficiency with fatal course in two sisters. (19657670)	Aytekin C.... Ikinciogullari A.	2010	PNP
2	Purine nucleoside phosphorylase deficiency in two unr elated Saudi patients. (19584574)	Alangari A.... Hershfield M.	2009	PNP
3	Lentivirus gene therapy for purine nucleoside phosphorylase deficiency. (18924118)	Liao P.... Grunebaum E.	2008	PNP
4	An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. (18208442)	Aytekin C.... Ikinciogullari A.	2008	PNP
5	Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. (16949240)	Parvaneh N.... Parvaneh L.	2007	PNP
6	Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. (17910661)	Delicou S.... Grafakos S.	2007	PNP
7	Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. (17641261)	Ozkinay F.... Ozkinay C.	2007	PNP, LOC647275
8	Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. (15571269)	Grunebaum E.... Roifman C.M.	2004	PNP
9	Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. (15520787)	Myers L.A.... Kurtzberg J.	2004	PNP
10	Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. (14711904)	Dror Y.... Roifman C.M.	2004	FAS, PNP
11	Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. (12693783)	Tabarki B.... Essoussi A.S.	2003	PNP
12	Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious. (12483996)	Moallem H.J.... Fikrig S.	2002	PNP
13	Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. (11902746)	Baguette C.... Cornu G.	2002	PNP
14	High IL-18 (interferon-gamma inducing factor) concentration in a purine nucleoside phosphorylase deficient patient. (10490534)	Yamamoto T.... Higashino K.	1999	PNP
15	Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)	Fleischman A.... Winkelstein J.A.	1998	ADA, PNP
16	Mutations in purine nucleoside phosphorylase deficiency. (9067751)	Markert M.L.... Ward F.E.	1997	PNP
17	Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation. (8673045)	Carpenter P.A.... Vowels M.R.	1996	PNP
18	Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. (8665699)	Timms P.M.... Bold A.M.	1996	PNP
19	Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency. (8595732)	Chantin C.... Bory C.	1996	PNP
20	Stroke in purine nucleoside phosphorylase deficiency. (7779212)	Tam D.A.... Leshner R.T.	1995	PNP
21	Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. (7918681)	Snyder F.F.... Mably E.R.	1994	ADK, DCK, PNP
22	Correction of purine nucleoside phosphorylase deficiency by retroviral-mediated gene transfer in mouse S49 T cell lymphoma: a model for gene therapy of T cell immunodeficiency. (1482702)	Foresman M.D.... McIvor R.S.	1992	PNP
23	Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (1384322)	Aust M.R.... Markert M.L.	1992	PNP
24	Hypouricemia and cellular immunodeficiency associated with purine-nucleoside phosphorylase deficiency (1929018)	GarcA-a AmorA-n Z.... LA^pez Sastre J.	1991	PNP
25	Purine nucleoside phosphorylase deficiency. (1931007)	Markert M.L.	1991	PNP
26	Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency. (2104895)	Fairbanks L.D.... Simmonds H.A.	1990	HPRT1, DCK, PNP
27	A human purine nucleoside phosphorylase deficiency caused by a single base change. (3029074)	Williams S.R.... Martin D.W. Jr.	1987	PNP

Genes related to nucleoside phosphorylase deficiency according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	PNP	purine nucleoside phosphorylase	11.1	Summaries, Publications
2	LOC647275	purine nucleoside phosphorylase pseudogene	11.1	Publications
3	DGUOK	deoxyguanosine kinase	11.1	Publications
4	DCK	deoxycytidine kinase	11.1	Publications
5	APRT	adenine phosphoribosyltransferase	11.1
6	AHCY	adenosylhomocysteinase	11.1
7	ADA	adenosine deaminase	11.1	Publications
8	HPRT1	hypoxanthine phosphoribosyltransferase 1	11.1	Publications
9	FAS	Fas (TNF receptor superfamily, member 6)	11.1	Publications
10	ADK	adenosine kinase	11.1	Publications
11	PRPS2	phosphoribosyl pyrophosphate synthetase 2	11.0
12	PRPS1	phosphoribosyl pyrophosphate synthetase 1	11.0

Pathways related to nucleoside phosphorylase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Pentose phosphate pathway20	9.1	PRPS1, PRPS2
2	Purine metabolism38	8.5	APRT, HPRT1, DGUOK, ADK, ADA
3	ATP/ITP metabolism41	8.3	ADA, APRT, HPRT1, PNP, ADK
4	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics34	8.1	ADK, PRPS1, AHCY, HPRT1, ADA
5	ATP/ITP metabolism10	8.1	ADA, ADK, PNP, HPRT1, APRT
6	Purine metabolism20	6.6	APRT, ADA, ADK, PRPS2, PRPS1, DCK
7	Metabolic pathways20	6.1	HPRT1, PNP, AHCY, DGUOK, DCK, PRPS1

Compounds related to nucleoside phosphorylase deficiency according to GeneDecks:

(show top 50)    (show all 102)

id	Compound	Score	Top Affiliating Genes
1	2,2-difluorodeoxyguanosine32	10.0	DCK, DGUOK
2	9-deazaguanine32 9 9	11.9	PNP, HPRT1
3	deoxyuridine32 18	10.8	PNP, DGUOK, DCK
4	8-azaguanine32 9 9	11.8	PNP, HPRT1
5	6 thioguanine32	9.7	HPRT1, PNP, DCK
6	9-(beta-d-arabinofuranosyl)guanine32	9.6	ADA, DCK, DGUOK, PNP
7	nelarabine32 9 9	11.6	PNP, ADA, DCK, DGUOK
8	2,8-dihydroxyadenine32	9.6	APRT, HPRT1
9	5-amino-5-deoxyadenosine32	9.6	ADA, ADK
10	adenylosuccinate32	9.6	APRT, ADK, PNP
11	tubercidin32	9.5	AHCY, ADK
12	allopurinol32 9 9	11.5	HPRT1, ADA, APRT
13	dgtp32 18	10.5	PNP, DGUOK, DCK, HPRT1
14	ribose32	9.4	ADK, AHCY, PNP
15	didanosine32 9 9	11.4	ADA, HPRT1, DGUOK, PNP
16	Alpha-Phosphoribosylpyrophosphoric Acid9 9	10.4	APRT, HPRT1
17	pentostatin32 42 9 9	12.3	ADA, ADK, PNP, DCK
18	deoxynucleoside32	9.2	DCK, DGUOK, ADK, ADA
19	vidarabine32 9 9	11.2	ADK, DCK, ADA, DGUOK
20	cytarabine32 34 9 9	12.2	DGUOK, ADA, DCK, FAS
21	uric acid32 18	10.2	APRT, PRPS1, HPRT1, PNP
22	2 chloroadenosine32	9.1	AHCY, ADK, DCK, ADA
23	ribavirin32 34 9 9	12.1	PNP, AHCY, ADK, ADA
24	2-chlorodeoxyadenosine32	9.1	DGUOK, PNP, FAS, DCK, ADA
25	fludarabine32 9 9	11.0	ADA, DCK, DGUOK, PNP, FAS
26	guanine32 9 18 9	12.0	ADA, PNP, DCK, APRT, HPRT1
27	thymidylate32	9.0	HPRT1, DCK, DGUOK, PNP, FAS
28	pyrimidine32 18	9.9	ADA, PNP, DCK, DGUOK, ADK
29	guanosine32 9 18 9	11.9	DCK, PNP, ADA, ADK, DGUOK
30	Adenosine9 18 9	10.9	ADA, PNP, AHCY, DCK, ADK
31	5-methylthioadenosine32	8.9	PNP, ADA, ADK, AHCY, APRT
32	s-adenosylhomocysteine32 18	9.8	APRT, PNP, AHCY, ADK, ADA
33	carbon32	8.8	ADA, PNP, HPRT1, FAS
34	inosine monophosphate32	8.8	ADK, AHCY, APRT, HPRT1, PNP
35	xanthine32 18	9.8	APRT, PNP, ADK, ADA, HPRT1
36	thymidine32 18	9.6	DGUOK, FAS, DCK, APRT, PNP, HPRT1
37	deoxyguanosine32 18	9.5	DCK, DGUOK, PNP, HPRT1, ADK, ADA
38	deoxycytidine32 18	9.5	ADK, DGUOK, DCK, ADA, PNP, HPRT1
39	inosine32 18	9.4	ADA, ADK, AHCY, PNP, APRT, HPRT1
40	hypoxanthine32 9 18 9	11.4	AHCY, PNP, HPRT1, APRT, ADK, ADA
41	adenine32 9 18 9	11.4	ADK, HPRT1, APRT, PNP, ADA, AHCY
42	deoxyadenosine32 18	9.3	ADA, APRT, PNP, AHCY, DGUOK, DCK
43	atp32	8.1	APRT, DCK, ADA, ADK, DGUOK, AHCY
44	adenylate32	8.1	HPRT1, PNP, DGUOK, DCK, ADK, ADA
45	purine nucleoside32	7.8	APRT, HPRT1, PNP, AHCY, DGUOK, DCK
46	nucleoside32	7.8	HPRT1, ADA, DGUOK, APRT, PNP, AHCY
47	Adenosine monophosphate9 18 9	9.7	ADK, PRPS2, PRPS1, DCK, HPRT1, APRT
48	prpp32	7.6	APRT, HPRT1, PNP, ADK, PRPS1, DCK
49	pyrophosphate32 18	8.5	PNP, DCK, PRPS2, ADK, APRT, PRPS1
50	purine32 18	8.3	ADA, APRT, HPRT1, PNP, AHCY, DCK

Cellular components related to nucleoside phosphorylase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	6.3	APRT, ADK, PRPS1, DCK, DGUOK, AHCY

Biological processes related to nucleoside phosphorylase deficiency according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	urate biosynthetic process	GO:034418	9.8	PRPS1, PNP
2	AMP salvage	GO:044209	9.7	APRT, ADK
3	grooming behavior	GO:007625	9.7	APRT, HPRT1
4	positive regulation of alpha-beta T cell differentiation	GO:046638	9.5	PNP, ADA
5	purine nucleotide biosynthetic process	GO:006164	9.4	PRPS1, HPRT1
6	purine ribonucleoside salvage	GO:006166	9.3	APRT, HPRT1, ADK
7	5-phosphoribose 1-diphosphate biosynthetic process	GO:006015	9.2	PRPS2, PRPS1
8	AMP biosynthetic process	GO:006167	9.2	PRPS1, PRPS2
9	nucleoside metabolic process	GO:009116	9.1	PRPS2, PRPS1
10	purine-containing compound salvage	GO:043101	8.0	HPRT1, PNP, DGUOK, DCK, ADK, APRT
11	nucleobase-containing small molecule metabolic process	GO:055086	8.0	HPRT1, PNP, DGUOK, ADA, APRT, ADK
12	purine nucleobase metabolic process	GO:006144	7.5	DCK, ADA, ADK, PRPS1, APRT, HPRT1
13	small molecule metabolic process	GO:044281	7.1	HPRT1, PNP, AHCY, DGUOK, PRPS1, ADK

Molecular functions related to nucleoside phosphorylase deficiency according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphotransferase activity, alcohol group as acceptor	GO:016773	9.3	DCK, ADK, DGUOK
2	ribose phosphate diphosphokinase activity	GO:004749	9.1	PRPS2, PRPS1
3	ADP binding	GO:043531	9.0	PRPS1, PRPS2
4	AMP binding	GO:016208	8.9	PRPS2, PRPS1, APRT
5	GDP binding	GO:019003	8.8	PRPS1, PRPS2
6	magnesium ion binding	GO:000287	8.4	HPRT1, PRPS2, PRPS1, DCK
7	protein homodimerization activity	GO:042803	8.4	HPRT1, DCK, PRPS1, PRPS2