GCKDHI
MCID: GLM024
MIFTS: 15

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (GCKDHI) malady

Categories: Genetic diseases

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

Aliases & Descriptions for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

Name: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 54 66 29 13
Gckdhi 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 609886
MedGen 40 C1835934
MeSH 42 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

OMIM : 54 Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal... (609886) more...

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

UniProtKB/Swiss-Prot : 66 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
id Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 hyperuricemia 32 HP:0002149
3 abnormality of the renal tubule 32 HP:0000091
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:

id Genetic test Affiliating Genes
1 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 29

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

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

39
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:

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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