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 57 75 29 13 6
Kidney Disease, Glomerulocystic, with Hyperuricemia and Isosthenuria 40
Gckdhi 75

Characteristics:

HPO:

32
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609886
MedGen 42 C1835934
MeSH 44 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

OMIM : 57 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 abnormality of the renal tubule

UniProtKB/Swiss-Prot : 75 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:

32
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 abnormality of the renal tubule 32 HP:0000091
3 hyperuricemia 32 HP:0002149
4 multiple glomerular cysts 32 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 29 UMOD

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

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

41
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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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