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Disease Browser
Parent Node:
expandHyperuricemia (D033461)
Parent Node:
expandKidney Diseases, Cystic (D052177)
..Starting node
..expandGlomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)

       Child Nodes:



 Sister Nodes: 
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBrachymesomelia renal syndrome (C537096)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandCystic Kidney Disease with Ventriculomegaly (C565657)
..expandGlomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert syndrome 4 (C536296)
..expandJoubert Syndrome 7 (C566916)
..expandMedullary Sponge Kidney (D007691) Child1
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandNEPHRONOPHTHISIS 11 (OMIM:613550)
..expandNephronophthisis 2 (C566582)
..expandNephronophthisis 3 (C565780)
..expandNephronophthisis 4 (C564640)
..expandNephronophthisis 7 (C566930)
..expandNephronophthisis, familial juvenile (C537699)
..expandPolycystic Kidney Diseases (D007690) Child21
..expandRenal cysts and diabetes syndrome (C535520)
..expandRENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken syndrome 4 (C537581)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..expandTsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..expandUlnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4654
Name:Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Definition:
Alternative IDs:OMIM:609886
ParentIDs:MESH:D033461|MESH:D052177
TreeNumbers:C12.777.419.403/C563693 |C13.351.968.419.403/C563693 |C23.550.449/C563693
Synonyms:
Slim Mappings:Pathology (process)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563693
MeSH: C563693
OMIM: 609886;

Genes: UMOD;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000091Abnormal renal tubule morphology
3 HP:0002149Hyperuricemia
4 HP:0100611Multiple glomerular cysts
5 HP:0000083Renal insufficiency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003361.3(UMOD):c.943T>C (p.Cys315Arg)7369UMODPathogenic121917773RCV000013050; NMedGen:C1835934,OMIM:609886162035957520359575NM_003361.3:c.943T>CNP_003352.2:p.Cys315ArgNC_000016.9:g.20359575A>GOMIM Allelic Variant:191845.0010C1835934 609886 Glomerulocystic kidney disease with hyperuricemia and isosthenuria