RHUC1
MCID: HYP761
MIFTS: 44

Hypouricemia, Renal, 1 (RHUC1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypouricemia, Renal, 1

MalaCards integrated aliases for Hypouricemia, Renal, 1:

Name: Hypouricemia, Renal, 1 57
Renal Hypouricemia 57 20 43 73 36 71
Hypouricemia, Renal 57 20 13 54
Hereditary Renal Hypouricemia 43 58 6
Familial Renal Hypouricemia 43 29 6
Dalmatian Hypouricemia 57 20 73
Rhuc1 57 73
Familial Renal Hypouricaemia 43
Hypouricemia, Renal, Type 1 39
Hypouricemia Renal 1 73
Rhuc 43

Characteristics:

Orphanet epidemiological data:

58
hereditary renal hypouricemia
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
usually asymptomatic
about 10% of patients develop exercise-induced renal failure and nephrolithiasis


HPO:

31
hypouricemia, renal, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM® 57 220150
KEGG 36 H00948
MeSH 44 D015499
Orphanet 58 ORPHA94088
MedGen 41 C0473219
UMLS 71 C0473219

Summaries for Hypouricemia, Renal, 1

MedlinePlus Genetics : 43 Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much urate in the body is toxic, so excess urate is removed from the body in urine.People with renal hypouricemia have little to no urate in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours.Because an excessive amount of urate passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from urate crystals. These urate stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.

MalaCards based summary : Hypouricemia, Renal, 1, also known as renal hypouricemia, is related to nephrolithiasis and hyperuricemia. An important gene associated with Hypouricemia, Renal, 1 is SLC22A12 (Solute Carrier Family 22 Member 12), and among its related pathways/superpathways is Uricosurics Pathway, Pharmacodynamics. The drugs Febuxostat and Uric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are acute kidney injury and increased urinary urate

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94088DefinitionHereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).Visit the Orphanet disease page for more resources.

OMIM® : 57 Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008). (220150) (Updated 05-Mar-2021)

KEGG : 36 Renal hypouricemia (RHUC) is a disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption is controlled via two proximal tubular urate transporters: apical URAT1 (SLC22A12) and basolateral GLUT9 (SLC2A9). And it has been suggested that RHUC is caused by mutations in URAT1 or GLUT9. Most of patients were asymptomatic, but some had nephrolithiasis or were predisposed to exercise-induced acute renal failure.

UniProtKB/Swiss-Prot : 73 Hypouricemia renal 1: 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, 1

Diseases in the Hypouricemia, Renal, 1 family:

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

Diseases related to Hypouricemia, Renal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 29.7 SLC2A9 SLC22A12 HPRT1
2 hyperuricemia 29.4 SLC2A9 SLC22A12 HPRT1
3 gout 29.2 SLC2A9 SLC22A12 HPRT1
4 nephrolithiasis, uric acid 28.9 SLC2A9 SLC22A12 HPRT1
5 hypouricemia, renal, 2 11.0
6 acute kidney failure 10.7
7 kidney disease 10.6
8 urolithiasis 10.5
9 acute kidney tubular necrosis 10.3
10 urate oxidase, pseudogene 10.1
11 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
12 polycystic kidney disease 10.1
13 fanconi syndrome 10.1
14 nephrotic syndrome 10.1
15 bilirubin metabolic disorder 10.1
16 iga glomerulonephritis 10.1
17 autosomal dominant polycystic kidney disease 10.1
18 bladder cancer 9.9
19 renal glucosuria 9.9
20 hypouricemia, familial renal, due to tubular hypersecretion 9.9
21 maturity-onset diabetes of the young, type 3 9.9
22 alacrima, achalasia, and mental retardation syndrome 9.9
23 cholangiocarcinoma 9.9
24 myoglobinuria 9.9
25 lipoid nephrosis 9.9
26 cholestasis 9.9
27 alcoholic liver cirrhosis 9.9
28 neuronal ceroid lipofuscinosis 9.9
29 glomerulonephritis 9.9
30 severe acute respiratory syndrome 9.9
31 anuria 9.9
32 gallbladder cancer 9.9
33 inappropriate adh syndrome 9.9
34 intrahepatic cholangiocarcinoma 9.9
35 liver cirrhosis 9.9
36 end stage renal disease 9.9
37 chronic kidney disease 9.9
38 appendicitis 9.9
39 glucose transporter type 1 deficiency syndrome 9.9
40 48,xxyy syndrome 9.9
41 48,xyyy 9.9
42 aminoaciduria 9.9
43 idiopathic edema 9.9
44 encephalopathy 9.9
45 idiopathic hypercalciuria 9.9
46 xanthinuria 9.4 SLC2A9 SLC22A12
47 purine-pyrimidine metabolic disorder 9.4 SLC2A9 SLC22A12 HPRT1
48 tubulointerstitial kidney disease, autosomal dominant, 1 9.4 SLC2A9 SLC22A12 HPRT1
49 lesch-nyhan syndrome 9.3 SLC2A9 SLC22A12 HPRT1

Graphical network of the top 20 diseases related to Hypouricemia, Renal, 1:



Diseases related to Hypouricemia, Renal, 1

Symptoms & Phenotypes for Hypouricemia, Renal, 1

Human phenotypes related to Hypouricemia, Renal, 1:

31
# Description HPO Frequency HPO Source Accession
1 acute kidney injury 31 HP:0001919
2 increased urinary urate 31 HP:0012611
3 uric acid nephrolithiasis 31 HP:0000791
4 renal tubular epithelial necrosis 31 HP:0008682
5 hypouricemia 31 HP:0003537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
increased urinary urate
hypouricemia
increased fractional excretion of urate (greater than 50%)

Genitourinary Kidneys:
uric acid nephrolithiasis
uric acid urolithiasis
tubular defect in presecretory reabsorption of urate
exercise-induced acute renal failure with acute tubular necrosis

Clinical features from OMIM®:

220150 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.32 SLC22A12
2 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.32 SLC22A12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.32 SLC2A9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.32 SLC22A12
5 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.32 SLC2A9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.32 SLC2A9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.32 SLC2A9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.32 SLC2A9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.32 SLC22A12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.32 SLC22A12

MGI Mouse Phenotypes related to Hypouricemia, Renal, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.13 HPRT1 SLC22A12 SLC2A9
2 renal/urinary system MP:0005367 8.8 HPRT1 SLC22A12 SLC2A9

Drugs & Therapeutics for Hypouricemia, Renal, 1

Drugs for Hypouricemia, Renal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Febuxostat Approved Phase 4 144060-53-7 134018
2
Uric acid Investigational Phase 4 69-93-2 1175
3 Antirheumatic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Department of Urology, Shanghai Xu-hui Central Hospital Enrolling by invitation NCT04398251 Phase 4 Febuxostat 40mg Tab

Search NIH Clinical Center for Hypouricemia, Renal, 1

Genetic Tests for Hypouricemia, Renal, 1

Genetic tests related to Hypouricemia, Renal, 1:

# Genetic test Affiliating Genes
1 Familial Renal Hypouricemia 29 SLC22A12

Anatomical Context for Hypouricemia, Renal, 1

MalaCards organs/tissues related to Hypouricemia, Renal, 1:

40
Kidney, Skin

Publications for Hypouricemia, Renal, 1

Articles related to Hypouricemia, Renal, 1:

(show top 50) (show all 178)
# Title Authors PMID Year
1
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. 54 61 6 57
18492088 2008
2
Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. 54 61 6 57
14655203 2003
3
Molecular identification of a renal urate anion exchanger that regulates blood urate levels. 6 57
12024214 2002
4
Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. 54 6 61
15634722 2005
5
Hereditary renal hypouricemia in children. 61 57
4009341 1985
6
Hereditary renal hypouricemia. Isolated tubular defect of urate reabsorption. 57 61
7365584 1980
7
Familial hypouricemia due to isolated renal tubular abnormality. 57 61
667288 1978
8
Hypouricemia due to familial isolated renal tubular uricosuria. Evaluation with the combined pyrazinamide-probenecid test. 57
2811790 1989
9
Xanthine oxidase deficiency and 'Dalmatian' hypouricaemia: incidence and effect of exercise. 57
6422142 1983
10
Hypouricemia due to an increment in renal tubular urate secretion. 57
7125770 1982
11
Familial hypouricaemia associated with renal tubular uricosuria and uric acid calculi: case report. 57
7430362 1980
12
Familial renal hypouricaemia: two additional cases with uric acid lithiasis. 57
465979 1979
13
Familial hypouricaemia due to renal tubular defect of urate transport. 57
1239977 1975
14
Hypouricemia due to renal uricosuria. A case study. 57
4694039 1973
15
Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man. 57
5054729 1972
16
Oxidative imbalance in idiopathic renal hypouricemia. 61 54
18936980 2009
17
Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia. 54 61
19092327 2008
18
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome. 61 54
18760270 2008
19
A case of renal hypouricemia caused by urate transporter 1 gene mutations. 54 61
16724660 2006
20
Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature. 61 54
16703794 2006
21
Mutational analysis of idiopathic renal hypouricemia in Korea. 61 54
15912381 2005
22
Renal urate handling: clinical relevance of recent advances. 61 54
15919000 2005
23
Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese. 61 54
15772829 2005
24
Function and localization of urate transporter 1 in mouse kidney. 61 54
14747372 2004
25
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. 61 54
14694169 2004
26
Uric acid nephrolithiasis. 61 54
7783706 1994
27
Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report. 61
32677916 2020
28
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression. 61
32166738 2020
29
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
30
Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation. 61
32355774 2020
31
A Case of Acute Kidney Injury in a Patient with Renal Hypouricemia without Intense Exercise. 61
32309296 2020
32
Modified forearm ischemic test in hypouricemic patients. 61
32312155 2020
33
Idiopathic renal hypouricemia: A case report and literature review. 61
31638209 2019
34
Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report. 61
31771519 2019
35
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes. 61
31591475 2019
36
Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados. 61
30704753 2019
37
Management of a pregnant woman with hypouricemia: a case report. 61
31198571 2019
38
Exercise-Induced Acute Kidney Injury in a Police Officer with Hereditary Renal Hypouricemia. 61
31602378 2019
39
Clinical practice guideline for renal hypouricemia (1st edition). 61
30783949 2019
40
SLC2A9 (GLUT9) mediates urate reabsorption in the mouse kidney. 61
30105595 2018
41
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review. 61
30097038 2018
42
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia. 61
29486147 2018
43
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia. 61
29958533 2018
44
Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing. 61
29590654 2018
45
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
46
Exercise-induced acute renal failure in a trainee cyclist without hypouricemia: Successful athletic career post-treatment. 61
29264080 2017
47
Prevalence of URAT1 allelic variants in the Roma population. 61
27906637 2016
48
A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia. 61
27780716 2016
49
Urat1-Uox double knockout mice are experimental animal models of renal hypouricemia and exercise-induced acute kidney injury. 61
27906636 2016
50
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase. 61
28508967 2016

Variations for Hypouricemia, Renal, 1

ClinVar genetic disease variations for Hypouricemia, Renal, 1:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC22A12 NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter) SNV Pathogenic 3512 rs121907892 11:64361219-64361219 11:64593747-64593747
2 SLC22A12 NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met) SNV Pathogenic 3513 rs121907893 11:64361020-64361020 11:64593548-64593548
3 SLC22A12 NM_144585.4(SLC22A12):c.894G>T (p.Glu298Asp) SNV Pathogenic 3514 rs121907894 11:64366051-64366051 11:64598579-64598579
4 SLC22A12 NM_144585.4(SLC22A12):c.1253T>G (p.Leu418Arg) SNV Pathogenic 3515 rs121907895 11:64367330-64367330 11:64599858-64599858
5 SLC22A12 NM_144585.4(SLC22A12):c.1082G>T (p.Gly361Val) SNV Pathogenic 3517 rs121907897 11:64367159-64367159 11:64599687-64599687
6 SLC22A12 NM_144585.4(SLC22A12):c.269G>A (p.Arg90His) SNV Pathogenic 3516 rs121907896 11:64359297-64359297 11:64591825-64591825
7 SLC22A12 NM_144585.4(SLC22A12):c.269G>A (p.Arg90His) SNV Pathogenic 3516 rs121907896 11:64359297-64359297 11:64591825-64591825
8 SLC22A12 NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) SNV Likely pathogenic 305239 rs765990518 11:64367222-64367222 11:64599750-64599750
9 SLC22A12 NM_144585.4(SLC22A12):c.*476del Deletion Uncertain significance 305256 rs886048454 11:64369499-64369499 11:64602027-64602027
10 SLC22A12 NM_144585.4(SLC22A12):c.1254C>T (p.Leu418=) SNV Uncertain significance 305242 rs142344676 11:64367331-64367331 11:64599859-64599859
11 SLC22A12 NM_144585.4(SLC22A12):c.1329C>T (p.Gly443=) SNV Uncertain significance 305245 rs61743169 11:64367882-64367882 11:64600410-64600410
12 SLC22A12 NM_144585.4(SLC22A12):c.1572C>T (p.Pro524=) SNV Uncertain significance 305248 rs138485972 11:64368384-64368384 11:64600912-64600912
13 SLC22A12 NM_144585.4(SLC22A12):c.402+13C>T SNV Uncertain significance 305232 rs369172656 11:64359443-64359443 11:64591971-64591971
14 SLC22A12 NM_144585.4(SLC22A12):c.*43_*45TCT[1] Microsatellite Uncertain significance 305251 rs755213790 11:64369064-64369066 11:64601592-64601594
15 SLC22A12 NM_144585.4(SLC22A12):c.570T>C (p.Ala190=) SNV Uncertain significance 305235 rs200340948 11:64360940-64360940 11:64593468-64593468
16 SLC22A12 NM_144585.4(SLC22A12):c.-248G>A SNV Uncertain significance 305223 rs577512029 11:64358781-64358781 11:64591309-64591309
17 SLC22A12 NM_144585.4(SLC22A12):c.-93C>T SNV Uncertain significance 305226 rs886048451 11:64358936-64358936 11:64591464-64591464
18 SLC22A12 NM_144585.4(SLC22A12):c.327C>T (p.Ser109=) SNV Uncertain significance 305231 rs371053482 11:64359355-64359355 11:64591883-64591883
19 SLC22A12 NM_144585.4(SLC22A12):c.1509G>A (p.Thr503=) SNV Uncertain significance 305247 rs140671173 11:64368321-64368321 11:64600849-64600849
20 SLC22A12 NM_144585.4(SLC22A12):c.1626G>A (p.Thr542=) SNV Uncertain significance 305250 rs143053863 11:64368987-64368987 11:64601515-64601515
21 SLC22A12 NM_144585.4(SLC22A12):c.*616T>C SNV Uncertain significance 305259 rs886048456 11:64369639-64369639 11:64602167-64602167
22 SLC22A12 NM_144585.4(SLC22A12):c.564G>A (p.Thr188=) SNV Uncertain significance 305234 rs200050310 11:64360934-64360934 11:64593462-64593462
23 SLC22A12 NM_144585.4(SLC22A12):c.-332A>G SNV Uncertain significance 305221 rs886048450 11:64358697-64358697 11:64591225-64591225
24 SLC22A12 NM_144585.4(SLC22A12):c.1460G>A (p.Arg487Gln) SNV Uncertain significance 305246 rs151308640 11:64368272-64368272 11:64600800-64600800
25 SLC22A12 NM_144585.4(SLC22A12):c.1612G>A (p.Ala538Thr) SNV Uncertain significance 305249 rs199535450 11:64368973-64368973 11:64601501-64601501
26 SLC22A12 NM_144585.4(SLC22A12):c.-10A>C SNV Uncertain significance 305228 rs749437340 11:64359019-64359019 11:64591547-64591547
27 SLC22A12 NM_144585.4(SLC22A12):c.*553A>T SNV Uncertain significance 305258 rs886048455 11:64369576-64369576 11:64602104-64602104
28 SLC22A12 NM_144585.4(SLC22A12):c.603G>C (p.Leu201=) SNV Uncertain significance 305236 rs886048452 11:64360973-64360973 11:64593501-64593501
29 SLC22A12 NM_144585.4(SLC22A12):c.*397C>T SNV Uncertain significance 305255 rs540414048 11:64369420-64369420 11:64601948-64601948
30 SLC22A12 NM_144585.4(SLC22A12):c.1005C>T (p.Ala335=) SNV Uncertain significance 305238 rs749139459 11:64366330-64366330 11:64598858-64598858
31 SLC22A12 NM_144585.4(SLC22A12):c.*643A>G SNV Uncertain significance 305261 rs886048458 11:64369666-64369666 11:64602194-64602194
32 SLC22A12 NM_144585.4(SLC22A12):c.1230C>T (p.Ala410=) SNV Uncertain significance 305240 rs757020167 11:64367307-64367307 11:64599835-64599835
33 SLC22A12 NM_144585.4(SLC22A12):c.*626G>A SNV Uncertain significance 305260 rs886048457 11:64369649-64369649 11:64602177-64602177
34 SLC22A12 NM_144585.4(SLC22A12):c.-310A>C SNV Uncertain significance 305222 rs372424252 11:64358719-64358719 11:64591247-64591247
35 SLC22A12 NM_144585.4(SLC22A12):c.1285+6G>C SNV Uncertain significance 305243 rs549880430 11:64367368-64367368 11:64599896-64599896
36 SLC22A12 NM_144585.4(SLC22A12):c.661+1G>A SNV Uncertain significance 631663 rs980726718 11:64361032-64361032 11:64593560-64593560
37 SLC22A12 NM_144585.4(SLC22A12):c.850C>T (p.Arg284Ter) SNV Uncertain significance 632165 rs752017508 11:64366007-64366007 11:64598535-64598535
38 SLC22A12 NM_144585.4(SLC22A12):c.1216C>T (p.Arg406Cys) SNV Uncertain significance 632166 rs770757659 11:64367293-64367293 11:64599821-64599821
39 SLC22A12 NM_144585.4(SLC22A12):c.1650_1651CA[2] (p.Gln552fs) Microsatellite Uncertain significance 632167 rs1565142996 11:64369011-64369012 11:64601539-64601540
40 SLC22A12 NM_144585.4(SLC22A12):c.730G>A (p.Gly244Ser) SNV Uncertain significance 877259 11:64361175-64361175 11:64593703-64593703
41 SLC22A12 NM_144585.4(SLC22A12):c.798G>A (p.Ser266=) SNV Uncertain significance 877260 11:64361243-64361243 11:64593771-64593771
42 SLC22A12 NM_144585.4(SLC22A12):c.1044C>T (p.Phe348=) SNV Uncertain significance 877261 11:64366369-64366369 11:64598897-64598897
43 SLC22A12 NM_144585.4(SLC22A12):c.1062G>A (p.Thr354=) SNV Uncertain significance 877262 11:64366387-64366387 11:64598915-64598915
44 SLC22A12 NM_144585.4(SLC22A12):c.1075G>A (p.Ala359Thr) SNV Uncertain significance 877263 11:64367152-64367152 11:64599680-64599680
45 SLC22A12 NM_144585.4(SLC22A12):c.1195C>T (p.Leu399=) SNV Uncertain significance 877264 11:64367272-64367272 11:64599800-64599800
46 SLC22A12 NM_144585.4(SLC22A12):c.224T>C (p.Ile75Thr) SNV Uncertain significance 878232 11:64359252-64359252 11:64591780-64591780
47 SLC22A12 NM_144585.4(SLC22A12):c.233C>T (p.Pro78Leu) SNV Uncertain significance 878233 11:64359261-64359261 11:64591789-64591789
48 SLC22A12 NM_144585.4(SLC22A12):c.1289T>C (p.Met430Thr) SNV Uncertain significance 878305 11:64367842-64367842 11:64600370-64600370
49 SLC22A12 NM_144585.4(SLC22A12):c.1301G>A (p.Arg434His) SNV Uncertain significance 720713 rs147647315 11:64367854-64367854 11:64600382-64600382
50 SLC22A12 NM_144585.4(SLC22A12):c.*741G>A SNV Uncertain significance 878343 11:64369764-64369764 11:64602292-64602292

UniProtKB/Swiss-Prot genetic disease variations for Hypouricemia, Renal, 1:

73
# Symbol AA change Variation ID SNP ID
1 SLC22A12 p.Arg90His VAR_036721 rs121907896
2 SLC22A12 p.Val138Met VAR_036723 rs149722479
3 SLC22A12 p.Gly164Ser VAR_036724 rs201181059
4 SLC22A12 p.Thr217Met VAR_036725 rs121907893
5 SLC22A12 p.Glu298Asp VAR_036730 rs121907894
6 SLC22A12 p.Gln382Leu VAR_036734 rs765990518
7 SLC22A12 p.Leu418Arg VAR_036735 rs121907895
8 SLC22A12 p.Met430Thr VAR_036736
9 SLC22A12 p.Arg477His VAR_036737 rs773677616
10 SLC22A12 p.Gly366Arg VAR_075344 rs104797695

Expression for Hypouricemia, Renal, 1

Search GEO for disease gene expression data for Hypouricemia, Renal, 1.

Pathways for Hypouricemia, Renal, 1

Pathways related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.7 SLC2A9 SLC22A12

GO Terms for Hypouricemia, Renal, 1

Cellular components related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 SLC2A9 SLC22A12

Biological processes related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 urate metabolic process GO:0046415 8.96 SLC2A9 SLC22A12
2 urate transport GO:0015747 8.62 SLC2A9 SLC22A12

Molecular functions related to Hypouricemia, Renal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.96 SLC2A9 SLC22A12
2 urate transmembrane transporter activity GO:0015143 8.62 SLC2A9 SLC22A12

Sources for Hypouricemia, Renal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....