GCKDHI
MCID: GLM024
MIFTS: 15

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (GCKDHI)

Categories: Genetic diseases, Nephrological 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 58 76 30 13 6
Kidney Disease, Glomerulocystic, with Hyperuricemia and Isosthenuria 41
Gckdhi 76

Characteristics:

HPO:

33
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609886
MeSH 45 D052177
MedGen 43 C1835934

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

OMIM : 58 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 kidney disease, glomerulocystic, with hyperuricemia and isosthenuria. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotypes are renal insufficiency and hyperuricemia

UniProtKB/Swiss-Prot : 76 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...

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

33
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 33 HP:0000083
2 hyperuricemia 33 HP:0002149
3 abnormality of the renal tubule 33 HP:0000091
4 multiple glomerular cysts 33 HP:0100611

Clinical features from OMIM:

609886

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 30 UMOD

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

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

42
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:

76
# 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.898T> G (p.Cys300Gly) single nucleotide variant Pathogenic rs121917772 GRCh38 Chromosome 16, 20348298: 20348298
3 UMOD NM_003361.3(UMOD): c.943T> C (p.Cys315Arg) single nucleotide variant Pathogenic rs121917773 GRCh37 Chromosome 16, 20359575: 20359575
4 UMOD NM_003361.3(UMOD): c.943T> C (p.Cys315Arg) single nucleotide variant Pathogenic rs121917773 GRCh38 Chromosome 16, 20348253: 20348253

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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