PedAM

Pediatric Disease Annotations & Medicines


	renal glucosuria

Disease ID	473
Disease	renal glucosuria
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.
Synonym	(renal glycosuria) or (renal diabetes) (renal glycosuria) or (renal diabetes) (disorder) diabetes renal glycosuria renal glycosuria, renal glycosuria, renal [disease/finding] glys glys1 renal diabetes renal diabetes (disorder) renal glucosuria (disorder) renal glucosuria (disorder) [ambiguous] renal glucosuria, nos renal glycosuria renal glycosuria (disorder) renal glycosuria, nos
Orphanet	ORPHANET:69076
OMIM	OMIM:233100
DOID	DOID:9432
UMLS	C0017980
MeSH	D006030
SNOMED-CT	SNOMEDCT_US_2016_09_01:236367002;SNOMEDCT_US_2016_09_01:267430007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0010690 \| cystinosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) GLYS1 \| 2759 \| CTD_human SLC5A2 \| 6524 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:30) 3630 \| INS \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 6927 \| HNF1A \| DISEASES 60482 \| SLC5A7 \| DISEASES 5443 \| POMC \| DISEASES 6527 \| SLC5A4 \| DISEASES 6523 \| SLC5A1 \| DISEASES 5972 \| REN \| DISEASES 4863 \| NPAT \| DISEASES 51181 \| DCXR \| DISEASES 6578 \| SLCO2A1 \| DISEASES 6569 \| SLC34A1 \| DISEASES 348932 \| SLC6A18 \| DISEASES 6514 \| SLC2A2 \| DISEASES 6524 \| SLC5A2 \| DISEASES 1187 \| CLCNKA \| DISEASES 4842 \| NOS1 \| DISEASES 26136 \| TES \| DISEASES 10724 \| MGEA5 \| DISEASES 55811 \| ADCY10 \| DISEASES 1491 \| CTH \| DISEASES 7809 \| BSND \| DISEASES 1184 \| CLCN5 \| DISEASES 3107 \| HLA-C \| DISEASES 5251 \| PHEX \| DISEASES 551 \| AVP \| DISEASES 3106 \| HLA-B \| DISEASES 6513 \| SLC2A1 \| DISEASES 5333 \| PLCD1 \| DISEASES 567 \| B2M \| DISEASES
Locus	(Waiting for update.)

Disease ID	473
Disease	renal glucosuria
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	473
Disease	renal glucosuria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0020438 \| hypercalciuria
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918621	NA	6524	SLC5A2	umls:C0017980	CLINVAR	NA	0.481900093	NA	SLC5A2;LOC105371171	16	31488919	G	A
rs267607067	NA	6524	SLC5A2	umls:C0017980	CLINVAR	NA	0.481900093	NA	SLC5A2	16	31486201	A	-
rs398122801	NA	6524	SLC5A2	umls:C0017980	CLINVAR	NA	0.481900093	NA	SLC5A2	16	31484657	C	A,T
rs398122802	NA	6524	SLC5A2	umls:C0017980	CLINVAR	NA	0.481900093	NA	SLC5A2	16	31484914	C	A
rs61742739	14614622	6524	SLC5A2	umls:C0017980	UNIPROT	Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.	0.481900093	2004	SLC5A2;C16orf58;LOC105371171	16	31490477	A	G

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0017980	rifampin	D012293	13292-46-1	glycosuria, renal	MESH:D006030	marker/mechanism	946666
C0017980	streptozocin	D013311	18883-66-4	glycosuria, renal	MESH:D006030	marker/mechanism	11219485

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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