RHUC2
MCID: HYP376
MIFTS: 25

Hypouricemia, Renal, 2 (RHUC2)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypouricemia, Renal, 2

MalaCards integrated aliases for Hypouricemia, Renal, 2:

Name: Hypouricemia, Renal, 2 56 13 71
Renal Hypouricemia 2 29 6
Rhuc2 56 73
Uric Acid Concentration, Serum, Qtl 2 56
Hypouricemia, Renal, Type 2 39
Hypouricemia Renal 2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

31

Classifications:



External Ids:

OMIM 56 612076
MeSH 43 D015499
SNOMED-CT via HPO 68 258211005 263681008 4519003
UMLS 71 C2677549

Summaries for Hypouricemia, Renal, 2

OMIM : 56 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 and gout. An important gene associated with Hypouricemia, Renal, 2 is SLC2A9 (Solute Carrier Family 2 Member 9). Affiliated tissues include kidney, and related phenotypes are nephrolithiasis and hypouricemia

UniProtKB/Swiss-Prot : 73 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 10.2
2 gout 10.2
3 acute kidney failure 10.2
4 glucose transporter type 1 deficiency syndrome 10.2

Symptoms & Phenotypes for Hypouricemia, Renal, 2

Human phenotypes related to Hypouricemia, Renal, 2:

31
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 31 occasional (7.5%) HP:0000787
2 hypouricemia 31 HP:0003537

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
nephrolithiasis (in some patients)
exercise-induced acute renal failure (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

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

MalaCards organs/tissues related to Hypouricemia, Renal, 2:

40
Kidney

Publications for Hypouricemia, Renal, 2

Articles related to Hypouricemia, Renal, 2:

(show all 15)
# Title Authors PMID Year
1
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 56 61 6
21810765 2012
2
Vanishing urate, acute kidney injury episodes and a homozygous SLC2A9 mutation. 56 6
25966807 2015
3
Homozygous SLC2A9 mutations cause severe renal hypouricemia. 56 6
19926891 2010
4
Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family. 56 6
19189137 2009
5
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 56 6
19026395 2008
6
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. 56 6
18327256 2008
7
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. 56 6
18327257 2008
8
Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2. 6 61
24940677 2014
9
Identification of low-frequency variants associated with gout and serum uric acid levels. 56
21983786 2011
10
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. 56
18834626 2008
11
Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans. 6
18701466 2008
12
Idiopathic renal hypouricemia: A case report and literature review. 61
31638209 2019
13
A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia. 61
27116386 2016
14
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 61
24397858 2014
15
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). 61
22132964 2011

Variations for Hypouricemia, Renal, 2

ClinVar genetic disease variations for Hypouricemia, Renal, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A9 NM_020041.3(SLC2A9):c.1235C>G (p.Pro412Arg)SNV Pathogenic 4598 rs121908323 4:9889247-9889247 4:9887623-9887623
2 SLC2A9 NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)SNV Pathogenic 217418 rs863225072 4:10020624-10020624 4:10019000-10019000
3 SLC2A9 NM_001001290.1(SLC2A9):c.595_727deldeletion Pathogenic 217419 4:9922197-9982215 4:9920573-9980591
4 SLC2A9 NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys)SNV Pathogenic 217420 rs776127501 4:9987317-9987317 4:9985693-9985693
5 SLC2A9 NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)SNV Pathogenic 217421 rs181509591 4:9998441-9998441 4:9996817-9996817
6 SLC2A9 SLC2A9, EX8-12DELdeletion Pathogenic 217422
7 SLC2A9 NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)duplication Uncertain significance 350238 rs772429581 4:9998461-9998461 4:9996837-9996837
8 SLC2A9 NM_020041.3(SLC2A9):c.512G>A (p.Arg171His)SNV Uncertain significance 632448 rs769968441 4:9987316-9987316 4:9985692-9985692
9 SLC2A9 NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)SNV Uncertain significance 4596 rs121908321 4:9892311-9892311 4:9890687-9890687
10 SLC2A9 NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys)SNV Likely benign 4597 rs121908322 4:9982305-9982305 4:9980681-9980681

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

73
# 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

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

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68 SNOMED-CT via HPO
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