RHUC2
MCID: HYP376
MIFTS: 27

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 urolithiasis. 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 urolithiasis 10.2
3 gout 10.2
4 acute kidney failure 10.2
5 glucose transporter type 1 deficiency syndrome 10.2

Graphical network of the top 20 diseases related to Hypouricemia, Renal, 2:



Diseases related to Hypouricemia, Renal, 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 16)
# 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. 6 56
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. 61 6
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
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion. 61
32375679 2020
13
Idiopathic renal hypouricemia: A case report and literature review. 61
31638209 2019
14
A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia. 61
27116386 2016
15
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 61
24397858 2014
16
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 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.374C>T (p.Thr125Met)SNV Pathogenic 217421 rs181509591 4:9998441-9998441 4:9996817-9996817
5 SLC2A9 SLC2A9, EX8-12DELdeletion Pathogenic 217422
6 SLC2A9 NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu)SNV Likely pathogenic 830032 4:9836581-9836581 4:9834957-9834957
7 SLC2A9 NM_020041.3(SLC2A9):c.759G>A (p.Pro253=)SNV Uncertain significance 829962 4:9943592-9943592 4:9941968-9941968
8 SLC2A9 NM_020041.3(SLC2A9):c.227C>T (p.Ser76Leu)SNV Uncertain significance 903584 4:10020621-10020621 4:10018997-10018997
9 SLC2A9 NM_020041.3(SLC2A9):c.50T>G (p.Leu17Arg)SNV Uncertain significance 899982 4:10023004-10023004 4:10021380-10021380
10 SLC2A9 NM_020041.3(SLC2A9):c.*136A>GSNV Uncertain significance 907837 4:9827885-9827885 4:9826261-9826261
11 SLC2A9 NM_020041.3(SLC2A9):c.*4G>ASNV Uncertain significance 907838 4:9828017-9828017 4:9826393-9826393
12 SLC2A9 NM_020041.3(SLC2A9):c.1622A>G (p.Ter541=)SNV Uncertain significance 907839 4:9828022-9828022 4:9826398-9826398
13 SLC2A9 NM_020041.3(SLC2A9):c.1581C>T (p.Ile527=)SNV Uncertain significance 904531 4:9828063-9828063 4:9826439-9826439
14 SLC2A9 NM_020041.3(SLC2A9):c.1004T>C (p.Ile335Thr)SNV Uncertain significance 906924 4:9909968-9909968 4:9908344-9908344
15 SLC2A9 NM_020041.3(SLC2A9):c.937G>A (p.Val313Ile)SNV Uncertain significance 906925 4:9922074-9922074 4:9920450-9920450
16 SLC2A9 NM_020041.3(SLC2A9):c.512G>A (p.Arg171His)SNV Uncertain significance 632448 rs769968441 4:9987316-9987316 4:9985692-9985692
17 SLC2A9 NM_020041.3(SLC2A9):c.619A>G (p.Ile207Val)SNV Uncertain significance 906997 4:9982278-9982278 4:9980654-9980654
18 SLC2A9 NM_020041.3(SLC2A9):c.575T>C (p.Ile192Thr)SNV Uncertain significance 906998 4:9982322-9982322 4:9980698-9980698
19 SLC2A9 NM_020041.3(SLC2A9):c.547A>G (p.Ser183Gly)SNV Uncertain significance 906999 4:9982350-9982350 4:9980726-9980726
20 SLC2A9 NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys)SNV Uncertain significance 217420 rs776127501 4:9987317-9987317 4:9985693-9985693
21 SLC2A9 NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)SNV Uncertain significance 4596 rs121908321 4:9892311-9892311 4:9890687-9890687
22 SLC2A9 NM_020041.3(SLC2A9):c.*129C>ASNV Uncertain significance 350191 rs550035001 4:9827892-9827892 4:9826268-9826268
23 SLC2A9 NM_020041.3(SLC2A9):c.1413C>A (p.Phe471Leu)SNV Uncertain significance 350196 rs745845092 4:9836511-9836511 4:9834887-9834887
24 SLC2A9 NM_020041.3(SLC2A9):c.1392T>C (p.Ala464=)SNV Uncertain significance 350198 rs886059752 4:9836532-9836532 4:9834908-9834908
25 SLC2A9 NM_020041.3(SLC2A9):c.1124T>C (p.Ile375Thr)SNV Uncertain significance 350204 rs755325843 4:9892325-9892325 4:9890701-9890701
26 SLC2A9 NM_020041.3(SLC2A9):c.*48C>GSNV Uncertain significance 350193 rs886059751 4:9827973-9827973 4:9826349-9826349
27 SLC2A9 NM_020041.3(SLC2A9):c.1356C>T (p.Ile452=)SNV Uncertain significance 350200 rs762605826 4:9836568-9836568 4:9834944-9834944
28 SLC2A9 NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)duplication Uncertain significance 350238 rs772429581 4:9998460-9998461 4:9996836-9996837
29 SLC2A9 NM_020041.3(SLC2A9):c.1399C>A (p.Leu467Ile)SNV Uncertain significance 350197 rs779780913 4:9836525-9836525 4:9834901-9834901
30 SLC2A9 NM_020041.3(SLC2A9):c.1085G>A (p.Gly362Asp)SNV Uncertain significance 350206 rs367692082 4:9909887-9909887 4:9908263-9908263
31 SLC2A9 NM_020041.3(SLC2A9):c.879C>G (p.Ser293Arg)SNV Uncertain significance 350214 rs886059753 4:9922132-9922132 4:9920508-9920508
32 SLC2A9 NM_020041.3(SLC2A9):c.798G>A (p.Glu266=)SNV Uncertain significance 350220 rs762538548 4:9943553-9943553 4:9941929-9941929
33 SLC2A9 NM_020041.3(SLC2A9):c.898C>T (p.Arg300Cys)SNV Likely benign 350211 rs74651202 4:9922113-9922113 4:9920489-9920489
34 SLC2A9 NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys)SNV Likely benign 4597 rs121908322 4:9982305-9982305 4:9980681-9980681
35 SLC2A9 NM_020041.3(SLC2A9):c.72C>T (p.Ala24=)SNV Benign/Likely benign 347007 rs138916724 4:10022982-10022982 4:10021358-10021358
36 SLC2A9 NM_020041.3(SLC2A9):c.899G>A (p.Arg300His)SNV Benign/Likely benign 350210 rs145688560 4:9922112-9922112 4:9920488-9920488
37 SLC2A9 NM_020041.3(SLC2A9):c.881G>A (p.Arg294His)SNV Benign 350213 rs3733591 4:9922130-9922130 4:9920506-9920506
38 SLC2A9 NM_020041.3(SLC2A9):c.841G>C (p.Asp281His)SNV Benign 350217 rs73225891 4:9922170-9922170 4:9920546-9920546
39 SLC2A9 NM_020041.3(SLC2A9):c.1368C>T (p.Thr456=)SNV Benign 350199 rs375423927 4:9836556-9836556 4:9834932-9834932
40 SLC2A9 NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=)SNV Benign 350201 rs147534794 4:9836625-9836625 4:9835001-9835001
41 SLC2A9 NM_020041.3(SLC2A9):c.809T>C (p.Val270Ala)SNV Benign 350219 rs116183067 4:9943542-9943542 4:9941918-9941918
42 SLC2A9 NM_020041.3(SLC2A9):c.567T>C (p.Leu189=)SNV Benign 350235 rs13125646 4:9982330-9982330 4:9980706-9980706
43 SLC2A9 NM_020041.3(SLC2A9):c.375G>A (p.Thr125=)SNV Benign 350237 rs10939650 4:9998440-9998440 4:9996816-9996816
44 SLC2A9 NM_020041.3(SLC2A9):c.322T>C (p.Leu108=)SNV Benign 350240 rs13113918 4:9998493-9998493 4:9996869-9996869
45 SLC2A9 NM_020041.3(SLC2A9):c.351C>T (p.Phe117=)SNV Benign 350239 rs148002726 4:9998464-9998464 4:9996840-9996840
46 SLC2A9 NM_020041.3(SLC2A9):c.*110G>TSNV Benign 350192 rs144294717 4:9827911-9827911 4:9826287-9826287
47 SLC2A9 NM_020041.3(SLC2A9):c.249+11G>TSNV Benign 347002 rs377565288 4:10020588-10020588 4:10018964-10018964
48 SLC2A9 NM_020041.3(SLC2A9):c.1203G>A (p.Thr401=)SNV Benign 350203 rs191072192 4:9892246-9892246 4:9890622-9890622
49 SLC2A9 NM_020041.3(SLC2A9):c.957C>T (p.Thr319=)SNV Benign 350209 rs770758004 4:9922054-9922054 4:9920430-9920430
50 SLC2A9 NM_020041.3(SLC2A9):c.1545C>T (p.Ser515=)SNV Benign 350195 rs144428359 4:9828099-9828099 4:9826475-9826475

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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