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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: Glycosuria (D006029)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Glycosuria, Renal (D006030)
Child Nodes:
........Cataract, Juvenile, With Microcornea And Glucosuria (C567434)
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4736

Name:

Glycosuria, Renal

Definition:

An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.

Alternative IDs:

OMIM:233100

ParentIDs:

MESH:D006029|MESH:D015499

TreeNumbers:

C12.777.419.815.532 |C12.777.934.363.450 |C13.351.968.419.815.532 |C13.351.968.934.363.450 |C16.320.565.861.532 |C18.452.394.937.450 |C18.452.648.861.532

Synonyms:

GLYCOSURIA, RENAL |GLYS1 |Renal Glucosuria |Renal Glycosuria

Slim Mappings:

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

Reference:

MedGen: D006030
MeSH: D006030
OMIM: 233100;

Genes: SLC5A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0010677	Enuresis nocturna	HP:0040283
4	HP:0003076	Glycosuria
5	HP:0001959	Polydipsia
6	HP:0002591	Polyphagia
7	HP:0000103	Polyuria
8	HP:0003828	Variable expressivity

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_003041.3(SLC5A2):c.1961A>G (p.Asn654Ser)	-1	-	Pathogenic	61742739	RCV000013768;	N	Gene:2759,MedGen:C0017980,OMIM:233100,ORPHA:69076,SNOMED CT:226309007	16	31501798	31501798	NM_003041.3:c.1961A>G	NP_003032.1:p.Asn654Ser	NC_000016.9:g.31501798A>G	OMIM Allelic Variant:182381.0002	C0017980 233100 Familial renal glucosuria
NM_003041.3(SLC5A2):c.294C>A (p.Phe98Leu)	6524	SLC5A2	Pathogenic	398122802	RCV000022763;	N	Gene:2759,MedGen:C0017980,OMIM:233100,ORPHA:69076,SNOMED CT:226309007	16	31496235	31496235	NM_003041.3:c.294C>A	NP_003032.1:p.Phe98Leu	NC_000016.9:g.31496235C>A	OMIM Allelic Variant:182381.0006	C0017980 233100 Familial renal glucosuria
NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs)	6524	SLC5A2	Pathogenic	267607067	RCV000013769;	N	Gene:2759,MedGen:C0017980,OMIM:233100,ORPHA:69076,SNOMED CT:226309007	16	31497522	31497522	NM_003041.3:c.500delA	NP_003032.1:p.Gln167Argfs	NC_000016.9:g.31497522delA	OMIM Allelic Variant:182381.0003	C0017980 233100 Familial renal glucosuria
NM_003041.3(SLC5A2):c.1320G>A (p.Trp440Ter)	6524	SLC5A2	Pathogenic	121918621	RCV000013767;	N	Gene:2759,MedGen:C0017980,OMIM:233100,ORPHA:69076,SNOMED CT:226309007	16	31500240	31500240	NM_003041.3:c.1320G>A	NP_003032.1:p.Trp440Ter	NC_000016.9:g.31500240G>A	OMIM Allelic Variant:182381.0001	C0017980 233100 Familial renal glucosuria