MCID: HYP376
MIFTS: 19

Hypouricemia, Renal, 2

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypouricemia, Renal, 2

MalaCards integrated aliases for Hypouricemia, Renal, 2:

Name: Hypouricemia, Renal, 2 57 13 73
Renal Hypouricemia 2 29 6
Rhuc2 57 75
Uric Acid Concentration, Serum, Qtl 2 57
Hypouricemia, Renal, Type 2 40
Hypouricemia Renal 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
some individuals may be clinically asymptomatic
both heterozygous and homozygous mutations have been reported


HPO:

32

Classifications:



External Ids:

OMIM 57 612076
MeSH 44 D015499
SNOMED-CT via HPO 69 263681008 258211005 4519003
UMLS 73 C2677549

Summaries for Hypouricemia, Renal, 2

OMIM : 57 Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by Matsuo et al., 2008). For additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 (220150). (612076)

MalaCards based summary : Hypouricemia, Renal, 2, also known as renal hypouricemia 2, is related to hypouricemia, renal, 1. An important gene associated with Hypouricemia, Renal, 2 is SLC2A9 (Solute Carrier Family 2 Member 9). Related phenotypes are nephrolithiasis and hypouricemia

UniProtKB/Swiss-Prot : 75 Hypouricemia renal 2: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis.

Related Diseases for Hypouricemia, Renal, 2

Diseases in the Hypouricemia, Renal, 1 family:

Hypouricemia, Familial Renal, Due to Tubular Hypersecretion Hypouricemia, Renal, 2

Diseases related to Hypouricemia, Renal, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypouricemia, renal, 1 10.0

Symptoms & Phenotypes for Hypouricemia, Renal, 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
exercise-induced acute renal failure (in some patients)
nephrolithiasis (in some patients)
increased urinary excretion of uric acid

Laboratory Abnormalities:
low serum uric acid
high fractional urinary excretion of uric acid


Clinical features from OMIM:

612076

Human phenotypes related to Hypouricemia, Renal, 2:

32
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 32 occasional (7.5%) HP:0000787
2 hypouricemia 32 HP:0003537

Drugs & Therapeutics for Hypouricemia, Renal, 2

Search Clinical Trials , NIH Clinical Center for Hypouricemia, Renal, 2

Genetic Tests for Hypouricemia, Renal, 2

Genetic tests related to Hypouricemia, Renal, 2:

# Genetic test Affiliating Genes
1 Renal Hypouricemia 2 29 SLC2A9

Anatomical Context for Hypouricemia, Renal, 2

Publications for Hypouricemia, Renal, 2

Variations for Hypouricemia, Renal, 2

UniProtKB/Swiss-Prot genetic disease variations for Hypouricemia, Renal, 2:

75
# Symbol AA change Variation ID SNP ID
1 SLC2A9 p.Leu75Arg VAR_065772 rs863225072
2 SLC2A9 p.Thr125Met VAR_065773 rs181509591
3 SLC2A9 p.Arg171Cys VAR_065774 rs776127501
4 SLC2A9 p.Arg198Cys VAR_065775 rs121908322
5 SLC2A9 p.Arg380Trp VAR_065776 rs121908321

ClinVar genetic disease variations for Hypouricemia, Renal, 2:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A9 NM_020041.2(SLC2A9): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic rs121908321 GRCh37 Chromosome 4, 9892311: 9892311
2 SLC2A9 NM_020041.2(SLC2A9): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic rs121908321 GRCh38 Chromosome 4, 9890687: 9890687
3 SLC2A9 NM_001001290.1(SLC2A9): c.1148C> G (p.Pro383Arg) single nucleotide variant Pathogenic rs121908323 GRCh37 Chromosome 4, 9889247: 9889247
4 SLC2A9 NM_001001290.1(SLC2A9): c.1148C> G (p.Pro383Arg) single nucleotide variant Pathogenic rs121908323 GRCh38 Chromosome 4, 9887623: 9887623
5 SLC2A9 NM_020041.2(SLC2A9): c.224T> G (p.Leu75Arg) single nucleotide variant Pathogenic rs863225072 GRCh37 Chromosome 4, 10020624: 10020624
6 SLC2A9 NM_020041.2(SLC2A9): c.224T> G (p.Leu75Arg) single nucleotide variant Pathogenic rs863225072 GRCh38 Chromosome 4, 10019000: 10019000
7 SLC2A9 NM_001001290.1(SLC2A9): c.595_727del133 deletion Pathogenic GRCh38 Chromosome 4, 9920573: 9980591
8 SLC2A9 NM_001001290.1(SLC2A9): c.595_727del133 deletion Pathogenic GRCh37 Chromosome 4, 9922197: 9982215
9 SLC2A9 NM_020041.2(SLC2A9): c.511C> T (p.Arg171Cys) single nucleotide variant Pathogenic rs776127501 GRCh37 Chromosome 4, 9987317: 9987317
10 SLC2A9 NM_020041.2(SLC2A9): c.511C> T (p.Arg171Cys) single nucleotide variant Pathogenic rs776127501 GRCh38 Chromosome 4, 9985693: 9985693
11 SLC2A9 NM_020041.2(SLC2A9): c.374C> T (p.Thr125Met) single nucleotide variant Pathogenic rs181509591 GRCh37 Chromosome 4, 9998441: 9998441
12 SLC2A9 NM_020041.2(SLC2A9): c.374C> T (p.Thr125Met) single nucleotide variant Pathogenic rs181509591 GRCh38 Chromosome 4, 9996817: 9996817
13 SLC2A9 SLC2A9, EX8-12DEL deletion Pathogenic

Expression for Hypouricemia, Renal, 2

Search GEO for disease gene expression data for Hypouricemia, Renal, 2.

Pathways for Hypouricemia, Renal, 2

GO Terms for Hypouricemia, Renal, 2

Sources for Hypouricemia, Renal, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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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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