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Hello! Guest! Please Login or Register! Clinician Mode

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: Renal Tubular Transport, Inborn Errors (D015499)
Parent Node: Urinary Calculi (D014545)
..Starting node ..Renal hypouricemia (C537757)
Child Nodes:
Sister Nodes:
..Kidney Calculi (D007669) 2
..Renal hypouricemia (C537757)
..Ureteral Calculi (D014514)
..Urinary Bladder Calculi (D001744)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9657

Name:

Renal hypouricemia

Definition:

Alternative IDs:

OMIM:220150

ParentIDs:

MESH:D014545|MESH:D015499

TreeNumbers:

C12.777.419.815/C537757 |C12.777.967.500/C537757 |C13.351.968.419.815/C537757 |C13.351.968.967.500/C537757 |C16.320.565.861/C537757 |C18.452.648.861/C537757 |C23.300.175.850/C537757

Synonyms:

Dalmatian hypouricemia |Hypouricemia, renal |Hypouricemia, Renal, 1 |RENAL HYPOURICEMIA |RHUC1

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C537757
MeSH: C537757
OMIM: 220150;

Genes: SLC22A12;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001919	Acute kidney injury
3	HP:0003537	Hypouricemia
4	HP:0012611	Increased urinary urate
5	HP:0000791	Uric acid nephrolithiasis

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_144585.3(SLC22A12):c.269G>A (p.Arg90His)	116085	SLC22A12	Pathogenic	121907896	RCV000003693;	N	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	11	64359297	64359297	NM_144585.3:c.269G>A	NP_653186.2:p.Arg90His	NC_000011.9:g.64359297G>A	OMIM Allelic Variant:607096.0005	C0473219 220150 Familial renal hypouricemia
NM_144585.3(SLC22A12):c.650C>T (p.Thr217Met)	116085	SLC22A12	Pathogenic	121907893	RCV000003690;	N	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	11	64361020	64361020	NM_144585.3:c.650C>T	NP_653186.2:p.Thr217Met	NC_000011.9:g.64361020C>T	OMIM Allelic Variant:607096.0002	C0473219 220150 Familial renal hypouricemia
NM_144585.3(SLC22A12):c.774G>A (p.Trp258Ter)	116085	SLC22A12	Pathogenic	121907892	RCV000003689;	N	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	11	64361219	64361219	NM_144585.3:c.774G>A	NP_653186.2:p.Trp258Ter	NC_000011.9:g.64361219G>A	OMIM Allelic Variant:607096.0001	C0473219 220150 Familial renal hypouricemia
NM_144585.3(SLC22A12):c.894G>T (p.Glu298Asp)	116085	SLC22A12	Pathogenic	121907894	RCV000003691;	N	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	11	64366051	64366051	NM_144585.3:c.894G>T	NP_653186.2:p.Glu298Asp	NC_000011.9:g.64366051G>T	OMIM Allelic Variant:607096.0003	C0473219 220150 Familial renal hypouricemia
NM_144585.3(SLC22A12):c.1082G>T (p.Gly361Val)	116085	SLC22A12	Pathogenic	121907897	RCV000003694;	N	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	11	64367159	64367159	NM_144585.3:c.1082G>T	NP_653186.2:p.Gly361Val	NC_000011.9:g.64367159G>T	OMIM Allelic Variant:607096.0006	C0473219 220150 Familial renal hypouricemia
NM_144585.3(SLC22A12):c.1253T>G (p.Leu418Arg)	116085	SLC22A12	Pathogenic	121907895	RCV000003692;	N	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	11	64367330	64367330	NM_144585.3:c.1253T>G	NP_653186.2:p.Leu418Arg	NC_000011.9:g.64367330T>G	OMIM Allelic Variant:607096.0004	C0473219 220150 Familial renal hypouricemia