HP2
MCID: HYP602
MIFTS: 50

Hyperoxaluria, Primary, Type Ii (HP2)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperoxaluria, Primary, Type Ii

MalaCards integrated aliases for Hyperoxaluria, Primary, Type Ii:

Name: Hyperoxaluria, Primary, Type Ii 57 13 54 39
Primary Hyperoxaluria Type 2 12 25 20 58 44 15 70
D-Glycerate Dehydrogenase Deficiency 57 12 73 20 58 72
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 57 25 20 72
Hp2 57 12 20 72
L-Glyceric Aciduria 12 58 72
Glyceric Aciduria 57 20 72
Primary Hyperoxaluria, Type Ii 29 6
Oxalosis Ii 57 72
Oxalosis Iiglyoxylate Reductase/hydroxypyruvate Reductase Deficiency 12
Hyperoxaluria Primary Type Ii 72
Primary Hyperoxaluria Type Ii 72
Hyperoxaluria Primary 2 72
Oxalosis 2 20
Ph2 72

Characteristics:

Orphanet epidemiological data:

58
primary hyperoxaluria type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM®:

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

Miscellaneous:
variable severity
some patients may be asymptomatic
onset usually in infancy or early childhood


HPO:

31
hyperoxaluria, primary, type ii:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111671
OMIM® 57 260000
OMIM Phenotypic Series 57 PS259900
NCIt 50 C123213
SNOMED-CT 67 40951006
ICD10 via Orphanet 33 E74.8
UMLS via Orphanet 71 C0268165
Orphanet 58 ORPHA93599
MedGen 41 C0268165
UMLS 70 C0268165

Summaries for Hyperoxaluria, Primary, Type Ii

GARD : 20 Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.

MalaCards based summary : Hyperoxaluria, Primary, Type Ii, also known as primary hyperoxaluria type 2, is related to primary hyperoxaluria and hyperoxaluria, primary, type iii. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase), and among its related pathways/superpathways are ATP/ITP metabolism and IgA-Producing B Cells in the Intestine. Affiliated tissues include kidney, liver and ovary, and related phenotypes are nephrocalcinosis and nephrolithiasis

Disease Ontology : 12 A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has material basis in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2.

UniProtKB/Swiss-Prot : 72 Hyperoxaluria primary 2: A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease.

Wikipedia : 73 D-glycerate dehydrogenase deficiency or PHGDH is a rare autosomal metabolic disease where the young... more...

More information from OMIM: 260000 PS259900
GeneReviews: NBK2692

Related Diseases for Hyperoxaluria, Primary, Type Ii

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type I Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

Diseases related to Hyperoxaluria, Primary, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 primary hyperoxaluria 32.0 TSPAN16 HP H2AC18 GRHPR EXOSC9
2 hyperoxaluria, primary, type iii 31.9 GRHPR EXOSC9 EXOSC8 EXOSC1 DET1 DDB1
3 hyperoxaluria, primary, type i 30.5 TSPAN16 HP H2AC18
4 d-glyceric aciduria 11.9
5 aortic valve prolapse 10.4 EXOSC9 EXOSC8
6 pulmonary hypertension, primary, 2 10.3
7 autosomal recessive disease 10.3
8 snail allergy 10.3 TPM3 GRHPR
9 microcephaly 10.3
10 nephrolithiasis 10.3
11 actinic prurigo 10.3 VCAM1 ITGA4
12 pontocerebellar hypoplasia, type 1b 10.3 EXOSC9 EXOSC8 EXOSC1
13 x-linked nephrolithiasis type i 10.3 EXOSC9 EXOSC8 EXOSC1
14 urolithiasis 10.3
15 urinary tract infection 10.3
16 pontocerebellar hypoplasia type 1 10.2 EXOSC9 EXOSC8
17 migraine, familial hemiplegic, 1 10.2 TSPAN16 TPM3 SLC1A3
18 crustacean allergy 10.2 TPM3 CCR6
19 familial hemiplegic migraine 10.2 TSPAN16 TPM3 SLC1A3
20 shrimp allergy 10.2 TPM3 CCR6
21 glycine encephalopathy 10.2
22 metabolic acidosis 10.2
23 hypotonia 10.2
24 atrial standstill 1 10.2
25 carbohydrate metabolic disorder 10.2 TSPAN16 HP H2AC18 GRHPR
26 acute cystitis 10.2
27 dysentery 10.2 HP H2AC18 CCR6
28 parasitic protozoa infectious disease 10.1 HP H2AC18 CCR6
29 trypanosomiasis 10.1 VCAM1 HP H2AC18
30 goodpasture syndrome 10.1 VCAM1 H2AC18 CCR6
31 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.1 VCAM1 H2AC18 CD163
32 migraine with or without aura 1 10.1 TSPAN16 TPM3 SLC1A3 H2AC18
33 yemenite deaf-blind hypopigmentation syndrome 10.1
34 branchiootic syndrome 1 10.1
35 west syndrome 10.1
36 cortical blindness 10.1
37 nephrocalcinosis 10.1
38 acute kidney failure 10.1
39 early myoclonic encephalopathy 10.1
40 kidney disease 10.1
41 inherited metabolic disorder 10.1
42 cerebral atrophy 10.1
43 encephalopathy 10.1
44 hemolytic uremic syndrome, atypical 1 10.0
45 hemolytic-uremic syndrome 10.0
46 thrombocytopenia 10.0
47 restrictive cardiomyopathy 10.0
48 hemolytic anemia 10.0
49 amyloidosis 10.0
50 autoimmune disease of central nervous system 10.0 VCAM1 H2AC18 CCR6

Graphical network of the top 20 diseases related to Hyperoxaluria, Primary, Type Ii:



Diseases related to Hyperoxaluria, Primary, Type Ii

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Ii

Human phenotypes related to Hyperoxaluria, Primary, Type Ii:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000121
2 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
3 hyperoxaluria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003159
4 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
5 ureteral obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0006000
6 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
7 aminoaciduria 31 HP:0003355
8 hematuria 31 HP:0000790
9 calcium oxalate nephrolithiasis 31 HP:0008672

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
hematuria
nephrocalcinosis
renal failure (in some patients)
calcium oxalate urolithiasis

Laboratory Abnormalities:
increased urinary oxylate
increased urinary l-glycerate
decreased grhpr activity

Clinical features from OMIM®:

260000 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Hyperoxaluria, Primary, Type Ii according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.02 DLC1
2 Decreased viability GR00249-S 10.02 CD163 CD300C EXOSC9 GRHPR HP TSPAN3
3 Decreased viability GR00381-A-1 10.02 CD163 DDB1 EXOSC1 GRHPR
4 Decreased viability GR00381-A-2 10.02 CD163
5 Decreased viability GR00381-A-3 10.02 CD163
6 Decreased viability GR00386-A-1 10.02 CD300C EXOSC1 SLC1A3
7 Decreased viability GR00402-S-2 10.02 CD163 CD300C DDB1 EXOSC1 EXOSC8 EXOSC9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.77 TPM3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.77 TPM3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.77 TPM3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.77 EXOSC9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.77 TPM3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.77 MCHR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.77 MCHR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.77 MCHR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 EXOSC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.77 EXOSC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.77 EXOSC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.77 MCHR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.77 MCHR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.77 EXOSC9
22 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.77 TPM3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.77 EXOSC9
24 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.77 MCHR1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.77 TPM3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.77 MCHR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 EXOSC1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.77 TPM3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.77 MCHR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.77 EXOSC1 TPM3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.77 EXOSC1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.77 EXOSC9
33 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.77 MCHR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 EXOSC9

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Ii

Search Clinical Trials , NIH Clinical Center for Hyperoxaluria, Primary, Type Ii

Cochrane evidence based reviews: primary hyperoxaluria type 2

Genetic Tests for Hyperoxaluria, Primary, Type Ii

Genetic tests related to Hyperoxaluria, Primary, Type Ii:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type Ii 29 GRHPR

Anatomical Context for Hyperoxaluria, Primary, Type Ii

MalaCards organs/tissues related to Hyperoxaluria, Primary, Type Ii:

40
Kidney, Liver, Ovary

Publications for Hyperoxaluria, Primary, Type Ii

Articles related to Hyperoxaluria, Primary, Type Ii:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). 54 25 57 6
11030416 2000
2
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 6 57 61
24116921 2014
3
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. 6 57 54
10484776 1999
4
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. 61 25 6
17510093 2007
5
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. 25 6 61
16306119 2005
6
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 61 25 6
14635115 2003
7
Primary hyperoxaluria type 2 in children. 6 25 61
12185464 2002
8
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? 61 6 25
11477177 2001
9
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 61 6
19296982 2009
10
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. 6 61
15327387 2004
11
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. 6 61
11728965 2001
12
Primary hyperoxaluria type 2. 57 61
9243228 1997
13
L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families. 61 57
6434867 1984
14
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. 25 61
28681512 2018
15
Calcified nodules on fingers in primary hyperoxaluria type 2. 25 61
26542998 2016
16
A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II. 6
25410531 2015
17
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 6
25644115 2015
18
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
19
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 6
25629080 2015
20
The case: A boy with recurrent stones. 6
18560364 2008
21
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. 61 25
16597637 2006
22
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. 61 25
16756993 2006
23
Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2. 61 25
9463747 1998
24
Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children. 57
2040928 1991
25
Coenzyme specificity of mammalian liver D-glycerate dehydrogenase. 57
2689175 1989
26
Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria. 57
3974685 1985
27
Hyperoxaluria in L-glyceric aciduria: possible pathogenic mechanism. 57
4321474 1971
28
L-glyceric aciduria. A new genetic variant of primary hyperoxaluria. 57
5635456 1968
29
A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. 25
27924398 2017
30
Primary hyperoxaluria. 25
23944302 2013
31
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 25
22547750 2012
32
Fat malabsorption and increased intestinal oxalate absorption are common after Roux-en-Y gastric bypass surgery. 25
21295813 2011
33
Metabolic syndrome and bariatric surgery in stone disease etiology. 25
21191301 2011
34
The effect of restrictive bariatric surgery on urinary stone risk factors. 25
20381135 2010
35
Effect of dietary changes on urinary oxalate excretion and calcium oxalate supersaturation in patients with hyperoxaluric stone formation. 25
19118878 2009
36
Roux-en-Y gastric bypass is associated with early increased risk factors for development of calcium oxalate nephrolithiasis. 25
18501812 2008
37
Nephrolithiasis after bariatric surgery for obesity. 25
18359397 2008
38
Bariatric surgery, hyperoxaluria, and nephrolithiasis: a plea for close postoperative management of risk factors. 25
17597787 2007
39
Hyperoxaluria in kidney stone formers treated with modern bariatric surgery. 25
17222634 2007
40
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. 25
16955107 2006
41
Secondary oxalosis due to excess vitamin C intake. 25
17080154 2006
42
Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. 25
16309382 2006
43
Images in cardiovascular medicine. Cardiomyopathy resulting from primary hyperoxaluria type II. 25
16432059 2006
44
Mitochondrial hydroxyproline metabolism: implications for primary hyperoxaluria. 25
15849464 2005
45
The impact of dietary oxalate on kidney stone formation. 25
15221245 2004
46
A young patient with end-stage renal disease, dyspnoea, weakness, peripheral neuropathy and an unsuspected underlying disease. 25
12897114 2003
47
The primary hyperoxalurias. 25
11518794 2001
48
Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. 25
11135054 2001
49
Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. 25
8865249 1996
50
Primary hyperoxaluria type 2 successfully treated with combined liver-kidney transplantation after failure of isolated kidney transplantation. 61
32090455 2020

Variations for Hyperoxaluria, Primary, Type Ii

ClinVar genetic disease variations for Hyperoxaluria, Primary, Type Ii:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRHPR NM_012203.2(GRHPR):c.246_247TG[1] (p.Val83fs) Microsatellite Pathogenic 162021 rs672601351 GRCh37: 9:37425950-37425951
GRCh38: 9:37425953-37425954
2 GRHPR NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) SNV Pathogenic 204232 rs180177305 GRCh37: 9:37424961-37424961
GRCh38: 9:37424964-37424964
3 GRHPR NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) SNV Pathogenic 204233 rs796052078 GRCh37: 9:37425991-37425991
GRCh38: 9:37425994-37425994
4 GRHPR NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) SNV Pathogenic 204234 rs180177312 GRCh37: 9:37428554-37428554
GRCh38: 9:37428557-37428557
5 GRHPR NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) SNV Pathogenic 204236 rs796052079 GRCh37: 9:37432013-37432013
GRCh38: 9:37432016-37432016
6 GRHPR NM_012203.2(GRHPR):c.905G>A (p.Arg302His) SNV Pathogenic 204237 rs180177323 GRCh37: 9:37436697-37436697
GRCh38: 9:37436700-37436700
7 GRHPR NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) SNV Pathogenic 204238 rs180177324 GRCh37: 9:37436726-37436726
GRCh38: 9:37436729-37436729
8 GRHPR NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) SNV Pathogenic 204239 rs180177325 GRCh37: 9:37436757-37436757
GRCh38: 9:37436760-37436760
9 GRHPR NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) SNV Pathogenic 204240 rs180177325 GRCh37: 9:37436757-37436757
GRCh38: 9:37436760-37436760
10 GRHPR NM_012203.2(GRHPR):c.-4_-3delinsAT Indel Pathogenic 204230 rs796052077 GRCh37: 9:37422744-37422745
GRCh38: 9:37422747-37422748
11 GRHPR NM_012203.2(GRHPR):c.45del (p.Ala17fs) Deletion Pathogenic 204245 rs180177311 GRCh37: 9:37422792-37422792
GRCh38: 9:37422795-37422795
12 GRHPR NM_012203.2(GRHPR):c.84-13_84-12del Deletion Pathogenic 204246 rs796052080 GRCh37: 9:37424828-37424829
GRCh38: 9:37424831-37424832
13 GRHPR NM_012203.2(GRHPR):c.288-2_288del Deletion Pathogenic 204247 rs796052081 GRCh37: 9:37426531-37426533
GRCh38: 9:37426534-37426536
14 GRHPR NG_008135.1:g.8888_8892delins7465_7744 Indel Pathogenic 204248 GRCh37: 9:37426597-37426598
GRCh38: 9:37426600-37426601
15 GRHPR NM_012203.2(GRHPR):c.375del (p.Leu126fs) Deletion Pathogenic 204249 rs180177308 GRCh37: 9:37426621-37426621
GRCh38: 9:37426624-37426624
16 GRHPR NM_012203.2(GRHPR):c.540del (p.Leu181fs) Deletion Pathogenic 204251 rs180177315 GRCh37: 9:37429773-37429773
GRCh38: 9:37429776-37429776
17 GRHPR NM_012203.2(GRHPR):c.84-2A>G SNV Pathogenic 204241 rs180177319 GRCh37: 9:37424840-37424840
GRCh38: 9:37424843-37424843
18 GRHPR NM_012203.2(GRHPR):c.103del (p.Asp35fs) Deletion Pathogenic 5636 rs80356708 GRCh37: 9:37424859-37424859
GRCh38: 9:37424862-37424862
19 GRHPR NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) SNV Pathogenic 5637 rs119490108 GRCh37: 9:37426542-37426542
GRCh38: 9:37426545-37426545
20 GRHPR NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) Deletion Pathogenic 204252 rs180177316 GRCh37: 9:37430517-37430518
GRCh38: 9:37430520-37430521
21 GRHPR NM_012203.2(GRHPR):c.694del (p.Gln232fs) Deletion Pathogenic 204253 rs796052082 GRCh37: 9:37430602-37430602
GRCh38: 9:37430605-37430605
22 GRHPR NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) SNV Pathogenic 204235 rs180177314 GRCh37: 9:37429729-37429729
GRCh38: 9:37429732-37429732
23 GRHPR NM_012203.2(GRHPR):c.404+3_404+6del Microsatellite Pathogenic/Likely pathogenic 204250 rs180177309 GRCh37: 9:37426650-37426653
GRCh38: 9:37426653-37426656
24 GRHPR NM_012203.2(GRHPR):c.862_863TG[2] (p.Val289fs) Microsatellite Pathogenic/Likely pathogenic 162020 rs180177321 GRCh37: 9:37432132-37432133
GRCh38: 9:37432135-37432136
25 GRHPR NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) SNV Pathogenic/Likely pathogenic 162022 rs180177322 GRCh37: 9:37436696-37436696
GRCh38: 9:37436699-37436699
26 GRHPR NM_012203.2(GRHPR):c.493+2T>A SNV Likely pathogenic 204243 rs180177313 GRCh37: 9:37428571-37428571
GRCh38: 9:37428574-37428574
27 GRHPR NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) SNV Likely pathogenic 204231 rs180177304 GRCh37: 9:37424860-37424860
GRCh38: 9:37424863-37424863
28 GRHPR NM_012203.2(GRHPR):c.515del (p.Leu172fs) Deletion Likely pathogenic 371081 rs1057516990 GRCh37: 9:37429750-37429750
GRCh38: 9:37429753-37429753
29 GRHPR NM_012203.2(GRHPR):c.755dup (p.Asp252fs) Duplication Likely pathogenic 370863 rs1057516823 GRCh37: 9:37432024-37432025
GRCh38: 9:37432027-37432028
30 GRHPR NM_012203.2(GRHPR):c.597del (p.Phe199fs) Deletion Likely pathogenic 370176 rs1057516292 GRCh37: 9:37429830-37429830
GRCh38: 9:37429833-37429833
31 GRHPR NM_012203.2(GRHPR):c.954del (p.Glu320fs) Deletion Likely pathogenic 370871 rs1057516831 GRCh37: 9:37436746-37436746
GRCh38: 9:37436749-37436749
32 GRHPR NM_012203.2(GRHPR):c.214+2T>G SNV Likely pathogenic 371598 rs1057517398 GRCh37: 9:37424974-37424974
GRCh38: 9:37424977-37424977
33 GRHPR NM_012203.2(GRHPR):c.404del (p.Asn135fs) Deletion Likely pathogenic 370187 rs1057516299 GRCh37: 9:37426650-37426650
GRCh38: 9:37426653-37426653
34 GRHPR NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) Deletion Likely pathogenic 371518 rs1057517333 GRCh37: 9:37428511-37428512
GRCh38: 9:37428514-37428515
35 GRHPR NM_012203.2(GRHPR):c.228dup (p.Val77fs) Duplication Likely pathogenic 371394 rs1057517238 GRCh37: 9:37425929-37425930
GRCh38: 9:37425932-37425933
36 GRHPR NM_012203.2(GRHPR):c.154del (p.Ala52fs) Deletion Likely pathogenic 371365 rs751101495 GRCh37: 9:37424908-37424908
GRCh38: 9:37424911-37424911
37 GRHPR NM_012203.2(GRHPR):c.437_438TG[2] (p.Cys147fs) Microsatellite Likely pathogenic 371124 rs1057517026 GRCh37: 9:37428513-37428514
GRCh38: 9:37428516-37428517
38 GRHPR NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) SNV Likely pathogenic 371535 rs180177307 GRCh37: 9:37426584-37426584
GRCh38: 9:37426587-37426587
39 GRHPR NM_012203.2(GRHPR):c.598+1G>T SNV Likely pathogenic 550070 rs111256477 GRCh37: 9:37429834-37429834
GRCh38: 9:37429837-37429837
40 GRHPR NM_012203.2(GRHPR):c.188_189del (p.Val63fs) Deletion Likely pathogenic 550123 rs1554746565 GRCh37: 9:37424945-37424946
GRCh38: 9:37424948-37424949
41 GRHPR NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) Duplication Likely pathogenic 551167 rs1554748534 GRCh37: 9:37432052-37432053
GRCh38: 9:37432055-37432056
42 GRHPR NM_012203.2(GRHPR):c.215-2_215-1del Deletion Likely pathogenic 551215 rs1554746793 GRCh37: 9:37425917-37425918
GRCh38: 9:37425920-37425921
43 GRHPR NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) Indel Likely pathogenic 551312 rs1554748528 GRCh37: 9:37432051-37432052
GRCh38: 9:37432054-37432055
44 GRHPR NM_012203.2(GRHPR):c.214+1G>T SNV Likely pathogenic 551339 rs1244822375 GRCh37: 9:37424973-37424973
GRCh38: 9:37424976-37424976
45 GRHPR NM_012203.2(GRHPR):c.496del (p.Gln166fs) Deletion Likely pathogenic 550345 rs1554747871 GRCh37: 9:37429730-37429730
GRCh38: 9:37429733-37429733
46 GRHPR NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) SNV Likely pathogenic 551406 rs1554746097 GRCh37: 9:37422749-37422749
GRCh38: 9:37422752-37422752
47 GRHPR NM_012203.2(GRHPR):c.214+1G>C SNV Likely pathogenic 552245 rs1244822375 GRCh37: 9:37424973-37424973
GRCh38: 9:37424976-37424976
48 GRHPR NM_012203.2(GRHPR):c.849dup (p.Thr284fs) Duplication Likely pathogenic 553655 rs1554748574 GRCh37: 9:37432118-37432119
GRCh38: 9:37432121-37432122
49 GRHPR NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) Deletion Likely pathogenic 599224 rs1564300888 GRCh37: 9:37430524-37430578
GRCh38: 9:37430527-37430581
50 GRHPR NM_012203.2(GRHPR):c.735-1G>A SNV Likely pathogenic 204244 rs180177317 GRCh37: 9:37432004-37432004
GRCh38: 9:37432007-37432007

Expression for Hyperoxaluria, Primary, Type Ii

Search GEO for disease gene expression data for Hyperoxaluria, Primary, Type Ii.

Pathways for Hyperoxaluria, Primary, Type Ii

Pathways related to Hyperoxaluria, Primary, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 EXOSC9 EXOSC8 EXOSC1
2 10.95 VCAM1 ITGA4 CCR6
3
Show member pathways
10.56 EXOSC9 EXOSC8 EXOSC1

GO Terms for Hyperoxaluria, Primary, Type Ii

Cellular components related to Hyperoxaluria, Primary, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 VCAM1 TSPAN3 TPM3 SLC1A1 ITGA4 HP
2 cell surface GO:0009986 9.83 VCAM1 SLC1A3 SLC1A1 ITGA4 CCR6
3 integral component of plasma membrane GO:0005887 9.61 VCAM1 TSPAN3 TSPAN16 SLC1A3 SLC1A1 MCHR1
4 cullin-RING ubiquitin ligase complex GO:0031461 9.4 DET1 DDB1
5 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.37 DET1 DDB1
6 exosome (RNase complex) GO:0000178 9.33 EXOSC9 EXOSC8 EXOSC1
7 cytoplasmic exosome (RNase complex) GO:0000177 9.32 EXOSC9 EXOSC8
8 nuclear exosome (RNase complex) GO:0000176 8.8 EXOSC9 EXOSC8 EXOSC1

Biological processes related to Hyperoxaluria, Primary, Type Ii according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of mRNA stability GO:0043488 9.77 EXOSC9 EXOSC8 EXOSC1
2 L-glutamate transmembrane transport GO:0015813 9.58 SLC1A3 SLC1A1
3 rRNA catabolic process GO:0016075 9.58 EXOSC9 EXOSC8
4 acute inflammatory response GO:0002526 9.57 VCAM1 HP
5 transepithelial transport GO:0070633 9.56 SLC1A3 SLC1A1
6 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.55 EXOSC9 EXOSC8
7 L-glutamate import across plasma membrane GO:0098712 9.54 SLC1A3 SLC1A1
8 nuclear mRNA surveillance GO:0071028 9.52 EXOSC9 EXOSC8
9 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.51 EXOSC9 EXOSC8
10 U4 snRNA 3'-end processing GO:0034475 9.49 EXOSC9 EXOSC8
11 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.48 EXOSC9 EXOSC8
12 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.46 EXOSC9 EXOSC8
13 D-aspartate import across plasma membrane GO:0070779 9.43 SLC1A3 SLC1A1
14 L-aspartate import across plasma membrane GO:0140009 9.4 SLC1A3 SLC1A1
15 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.37 EXOSC9 EXOSC8
16 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.33 EXOSC9 EXOSC8 EXOSC1
17 U5 snRNA 3'-end processing GO:0034476 9.32 EXOSC9 EXOSC8
18 U1 snRNA 3'-end processing GO:0034473 9.26 EXOSC9 EXOSC8
19 cell-cell adhesion in response to extracellular stimulus GO:0140039 8.96 VCAM1 ITGA4
20 L-glutamate import GO:0051938 8.62 SLC1A3 SLC1A1

Molecular functions related to Hyperoxaluria, Primary, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-glutamate transmembrane transporter activity GO:0005313 9.32 SLC1A3 SLC1A1
2 glutamate binding GO:0016595 9.26 SLC1A3 SLC1A1
3 high-affinity glutamate transmembrane transporter activity GO:0005314 9.16 SLC1A3 SLC1A1
4 glutamate:sodium symporter activity GO:0015501 8.96 SLC1A3 SLC1A1
5 exoribonuclease activity GO:0004532 8.8 EXOSC9 EXOSC8 EXOSC1

Sources for Hyperoxaluria, Primary, Type Ii

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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