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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

Disease Browser
Parent Node: Anemia (D000740)
Parent Node: Hyperuricemia (D033461)
Parent Node: Renal Insufficiency (D051437)
..Starting node ..Hyperuricemic Nephropathy, Familial Juvenile 2 (C567760)
Child Nodes:
Sister Nodes:
..Acute Kidney Injury (D058186) 2
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..Cardio-Renal Syndrome (D059347)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Hyperuricemic Nephropathy, Familial Juvenile 2 (C567760)
..Lutz Richner Landolt syndrome (C537726)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Papillorenal syndrome (C537168)
..Renal Insufficiency, Chronic (D051436) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5526

Name:

Hyperuricemic Nephropathy, Familial Juvenile 2

Definition:

Alternative IDs:

OMIM:613092

ParentIDs:

MESH:D000740|MESH:D033461|MESH:D051437

TreeNumbers:

C12.777.419.780/C567760 |C13.351.968.419.780/C567760 |C15.378.071/C567760 |C23.550.449/C567760

Synonyms:

Early-Onset Hyperuricemia, Anemia, And Progressive Kidney Failure |Hnfj2 |HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2

Slim Mappings:

Blood disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C567760
MeSH: C567760
OMIM: 613092;

Genes: REN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001903	Anemia
3	HP:0012622	Chronic kidney disease
4	HP:0000097	Focal segmental glomerulosclerosis
5	HP:0004719	Hyperechogenic kidneys
6	HP:0002149	Hyperuricemia
7	HP:0000089	Renal hypoplasia
8	HP:0000092	Renal tubular atrophy
9	HP:0005576	Tubulointerstitial fibrosis

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	Disease_hgmd
NM_000537.3(REN):c.47T>G (p.Leu16Arg)	5972	REN	Pathogenic	121917743	RCV000014006;	N	MedGen:C2751310,OMIM:613092,ORPHA:217330	1	204135375	204135375	NM_000537.3:c.47T>G	NP_000528.1:p.Leu16Arg	NC_000001.10:g.204135375A>C	OMIM Allelic Variant:179820.0005	C2751310 613092 Hyperuricemic nephropathy, familial juvenile, 2