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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Urolithiasis (D052878)
..Starting node ..Adenine phosphoribosyltransferase deficiency (C538228)
Child Nodes:
Sister Nodes:
..Adenine phosphoribosyltransferase deficiency (C538228)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Nephrolithiasis (D053040) 11
..Ureterolithiasis (D053039) 1
..Urinary Calculi (D014545) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

259

Name:

Adenine phosphoribosyltransferase deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D008661|MESH:D052878

TreeNumbers:

C12.777.967/C538228 |C13.351.968.967/C538228 |C16.320.565/C538228 |C18.452.648/C538228

Synonyms:

2,8-Dihydroxyadenine Urolithiasis |2,8-Dihydroxyadeninuria |APRT Deficiency |DHA Crystalline Nephropathy |Urolithiasis, 2,8-Dihydroxyadenine

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C538228
MeSH: C538228
OMIM: 614723;

Genes: APRT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000787	Nephrolithiasis
3	HP:0000083	Renal insufficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000485.2(APRT):c.542G>C (p.Ter181Ser)	353	APRT	Pathogenic	387906584	RCV000019964;	N	MedGen:C0268120,OMIM:614723	16	88876107	88876107	NM_000485.2:c.542G>C	NP_000476.1:p.Ter181Ser	NC_000016.9:g.88876107C>G	OMIM Allelic Variant:102600.0009	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.517_519delTTC (p.Phe174del)	353	APRT	Pathogenic	121912681	RCV000019956;	N	MedGen:C0268120,OMIM:614723	16	88876130	88876132	NM_000485.2:c.517_519delTTC	NP_000476.1:p.Phe174del	NC_000016.9:g.88876130_88876132delGAA	OMIM Allelic Variant:102600.0001	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.448G>T (p.Val150Phe)	353	APRT	Pathogenic	281860266	RCV000033909;	N	MedGen:C0268120,OMIM:614723	16	88876201	88876201	NM_000485.2:c.448G>T	NP_000476.1:p.Val150Phe	NC_000016.9:g.88876201C>A	-	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.407T>C (p.Met136Thr)	353	APRT	Pathogenic	28999113	RCV000019958; RCV000033908;	N	MedGen:C0268120,OMIM:614723; MedGen:C0268121	16	88876242	88876242	NM_000485.2:c.407T>C	NP_000476.1:p.Met136Thr	NC_000016.9:g.88876242A>G	OMIM Allelic Variant:102600.0003	C0268120 614723 Adenine phosphoribosyltransferase deficiency; C0268121 APRT deficiency, Japanese type
NM_000485.2(APRT):c.400+2dupT	353	APRT	Pathogenic	745594160	RCV000192216;	N	MedGen:C0268120,OMIM:614723	16	88876476	88876476	NM_000485.2:c.400+2dupT		NC_000016.9:g.88876476dupA	-	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.329T>C (p.Leu110Pro)	353	APRT	Pathogenic	104894508	RCV000019962;	N	MedGen:C0268120,OMIM:614723	16	88876549	88876549	NM_000485.2:c.329T>C	NP_000476.1:p.Leu110Pro	NC_000016.9:g.88876549A>G	OMIM Allelic Variant:102600.0007	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.321+2dupT	353	APRT	Pathogenic	281860263	RCV000033907;	N	MedGen:C0268120,OMIM:614723	16	88876829	88876829	NM_000485.2:c.321+2dupT		NC_000016.9:g.88876829dupA	OMIM Allelic Variant:102600.0002	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.297C>T (p.Ala99=)	353	APRT	Benign	281860262	RCV000033906;	N	MedGen:C0268120,OMIM:614723	16	88876855	88876855	NM_000485.2:c.297C>T	NP_000476.1:p.Ala99=	NC_000016.9:g.88876855G>A	-	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.294G>A (p.Trp98Ter)	353	APRT	Pathogenic	104894507	RCV000033905;	N	MedGen:C0268120,OMIM:614723	16	88876858	88876858	NM_000485.2:c.294G>A	NP_000476.1:p.Trp98Ter	NC_000016.9:g.88876858C>T	OMIM Allelic Variant:102600.0005	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.258_261dupCCGA (p.Lys88Profs)	353	APRT	Pathogenic	281860265	RCV000033904;	N	MedGen:C0268120,OMIM:614723	16	88876891	88876894	NM_000485.2:c.258_261dupCCGA	NP_000476.1:p.Lys88Profs	NC_000016.9:g.88876891_88876894dupTCGG	OMIM Allelic Variant:102600.0006	C0268120 614723 Adenine phosphoribosyltransferase deficiency
NM_000485.2(APRT):c.194A>T (p.Asp65Val)	353	APRT	Pathogenic	104894506	RCV000033903;	N	MedGen:C0268120,OMIM:614723	16	88876958	88876958	NM_000485.2:c.194A>T	NP_000476.1:p.Asp65Val	NC_000016.9:g.88876958T>A	OMIM Allelic Variant:102600.0004	C0268120 614723 Adenine phosphoribosyltransferase deficiency