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	adenine phosphoribosyltransferase deficiency

Disease ID	526
Disease	adenine phosphoribosyltransferase deficiency
Definition	An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones.
Synonym	adenine phosphoribosyl transferase deficiency adenine phosphoribosyltransferase deficiency (disorder) aprt deficiency aprtd deficiency of adenine phosphoribosyltransferase deficiency of adenine phosphoribosyltransferase (disorder) deficiency of amp pyrophorylase deficiency of transphosphoribosidase
Orphanet	ORPHANET:976
OMIM	OMIM:614723
DOID	DOID:0060350
UMLS	C0268120
SNOMED-CT	SNOMEDCT_US_2016_09_01:124274002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0035078 \| renal failure \| 2 C0392525 \| nephrolithiasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 353 \| APRT \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:9) 100 \| ADA \| 1.958 \| DISEASES 229 \| ALDOB \| 2.407 \| DISEASES 353 \| APRT \| 7.049 \| DISEASES 23109 \| DDN \| 3.517 \| DISEASES 4519 \| MT-CYB \| 2.035 \| DISEASES 4860 \| PNP \| 2.297 \| DISEASES 54790 \| TET2 \| 1.128 \| DISEASES 7498 \| XDH \| 4.412 \| DISEASES 7507 \| XPA \| 1.778 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) APRT \| 16q24.3

Disease ID	526
Disease	adenine phosphoribosyltransferase deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0100518 \| Dysuria HP:0000787 \| Nephrolithiasis HP:0003774 \| Stage 5 chronic kidney disease HP:0000790 \| Hematuria HP:0000010 \| Recurrent urinary tract infections HP:0000083 \| Renal insufficiency
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0000083 \| Renal insufficiency \| 2 HP:0000787 \| Renal calculi \| 1

Disease ID	526
Disease	adenine phosphoribosyltransferase deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0268120 \| 2,8-dihydroxyadenine urolithiasis C0002896 \| sideroblastic anemia
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:13)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894506	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88810550	T	A
rs104894507	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88810450	C	T
rs104894508	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88810141	A	G
rs121912681	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT;CDT1	16	88809722	GAA	-
rs200392753	15571218	353	APRT	umls:C0268120	BeFree	We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.	0.442714419	2004	APRT	16	88810494	C	T
rs200392753	15571218	353	APRT	umls:C0268120	UNIPROT	We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.	0.442714419	2004	APRT	16	88810494	C	T
rs281860263	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88810420	-	A
rs281860265	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88810482	-	TCGG
rs281860266	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88809793	C	A
rs28999113	21635362	353	APRT	umls:C0268120	UNIPROT	A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.	0.442714419	2011	APRT	16	88809834	A	G
rs28999113	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88809834	A	G
rs387906584	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT;CDT1	16	88809699	C	G
rs745594160	NA	353	APRT	umls:C0268120	CLINVAR	NA	0.442714419	NA	APRT	16	88810067	-	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
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:0000083	Renal insufficiency	MP:0003335	exocrine pancreatic insufficiency	inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0003774	Stage 5 chronic kidney disease	MP:0011534	granular kidney	a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the develop

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100518	Dysuria	MP:0011414	erythruria	passage of red colored urine
HP:0000790	Hematuria	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0003774	Stage 5 chronic kidney disease	MP:0014040	increased cellular sensitivity to DNA damaging agents	greater incidence of cell death following exposure to agents that cause DNA damage
HP:0000083	Renal insufficiency	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000787	Nephrolithiasis	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

Disease ID	526
Disease	adenine phosphoribosyltransferase deficiency
Case	(Waiting for update.)

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