MCID: GLM024
MIFTS: 14

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Categories: Genetic diseases

Aliases & Classifications for Glomerulocystic Kidney Disease with Hyperuricemia and...

MalaCards integrated aliases for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

Name: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 53 71 28 13
Gckdhi 71

Characteristics:

HPO:

31
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 609886
MedGen 39 C1835934
MeSH 41 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

OMIM : 53 Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (189907) as part of the clinical phenotype of renal cysts and diabetes syndrome (137920). (609886)

MalaCards based summary : Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria, is also known as gckdhi, and has symptoms including renal insufficiency, abnormality of the renal tubule and hyperuricemia. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (Uromodulin). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 71 Glomerulocystic kidney disease with hyperuricemia and isosthenuria: A renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability.

Related Diseases for Glomerulocystic Kidney Disease with Hyperuricemia and...

Symptoms & Phenotypes for Glomerulocystic Kidney Disease with Hyperuricemia and...

Clinical features from OMIM:

609886

Human phenotypes related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

31
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 31 HP:0000083
2 abnormality of the renal tubule 31 HP:0000091
3 hyperuricemia 31 HP:0002149
4 multiple glomerular cysts 31 HP:0100611

Drugs & Therapeutics for Glomerulocystic Kidney Disease with Hyperuricemia and...

Search Clinical Trials , NIH Clinical Center for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Genetic Tests for Glomerulocystic Kidney Disease with Hyperuricemia and...

Genetic tests related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

# Genetic test Affiliating Genes
1 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 28 UMOD

Anatomical Context for Glomerulocystic Kidney Disease with Hyperuricemia and...

MalaCards organs/tissues related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

38
Kidney

Publications for Glomerulocystic Kidney Disease with Hyperuricemia and...

Variations for Glomerulocystic Kidney Disease with Hyperuricemia and...

UniProtKB/Swiss-Prot genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

71
# Symbol AA change Variation ID SNP ID
1 UMOD p.Cys315Arg VAR_025961 rs121917773

ClinVar genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UMOD NM_003361.3(UMOD): c.898T> G (p.Cys300Gly) single nucleotide variant Pathogenic rs121917772 GRCh37 Chromosome 16, 20359620: 20359620
2 UMOD NM_003361.3(UMOD): c.943T> C (p.Cys315Arg) single nucleotide variant Pathogenic rs121917773 GRCh37 Chromosome 16, 20359575: 20359575

Expression for Glomerulocystic Kidney Disease with Hyperuricemia and...

Search GEO for disease gene expression data for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria.

Pathways for Glomerulocystic Kidney Disease with Hyperuricemia and...

GO Terms for Glomerulocystic Kidney Disease with Hyperuricemia and...

Sources for Glomerulocystic Kidney Disease with Hyperuricemia and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....