MCID: HYP602
MIFTS: 37

Hyperoxaluria, Primary, Type Ii

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

Aliases & Classifications for Hyperoxaluria, Primary, Type Ii

MalaCards integrated aliases for Hyperoxaluria, Primary, Type Ii:

Name: Hyperoxaluria, Primary, Type Ii 57 13 55 40
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 57 24 53 75
D-Glycerate Dehydrogenase Deficiency 57 53 59 75
Primary Hyperoxaluria Type 2 24 53 59 73
Glyceric Aciduria 57 53 75
Hp2 57 53 75
Primary Hyperoxaluria, Type Ii 29 6
L-Glyceric Aciduria 59 75
Oxalosis Ii 57 75
Glyoxylate Reductase/hydroxypyruvate Reductase 13
Hyperoxaluria Primary Type Ii 75
Primary Hyperoxaluria Type Ii 75
Hyperoxaluria Primary 2 75
Oxalosis 2 53
Ph2 75

Characteristics:

Orphanet epidemiological data:

59
primary hyperoxaluria type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hyperoxaluria, primary, type ii:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 260000
Orphanet 59 ORPHA93599
UMLS via Orphanet 74 C0268165
ICD10 via Orphanet 34 E74.8
MedGen 42 C0268165
MeSH 44 D006960
UMLS 73 C0268165

Summaries for Hyperoxaluria, Primary, Type Ii

NIH Rare Diseases : 53 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 glyoxylate reductase/hydroxypyruvate reductase deficiency, is related to d-glyceric aciduria and primary hyperoxaluria. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase). The drugs Omeprazole and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and liver, and related phenotypes are renal insufficiency and nephrocalcinosis

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 260000
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:

# Related Disease Score Top Affiliating Genes
1 d-glyceric aciduria 12.7
2 primary hyperoxaluria 11.5
3 hepatocellular carcinoma 10.3
4 hepatitis 10.3
5 west syndrome 10.0
6 end stage renal failure 10.0
7 malaria 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperoxaluria, Primary, Type Ii:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
3 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
4 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
5 ureteral obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0006000
6 hyperoxaluria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003159
7 aminoaciduria 32 HP:0003355
8 hematuria 32 HP:0000790
9 calcium oxalate nephrolithiasis 32 HP:0008672

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Ii

Drugs for Hyperoxaluria, Primary, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
3
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
4
Rifabutin Approved, Investigational Phase 3 72559-06-9 6323490
5
Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3,Not Applicable 1406-66-2 14986
6
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable 59-02-9 14985
7
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
8 tannic acid Approved, Nutraceutical Phase 3
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
10 Micronutrients Phase 2, Phase 3,Phase 3,Not Applicable
11 Tocopherols Phase 2, Phase 3,Not Applicable
12 Tocotrienols Phase 2, Phase 3,Not Applicable
13 Trace Elements Phase 2, Phase 3,Phase 3,Not Applicable
14 Vitamins Phase 2, Phase 3,Phase 3,Not Applicable
15 Antioxidants Phase 2, Phase 3,Not Applicable
16 Protective Agents Phase 2, Phase 3,Not Applicable
17 Anti-Bacterial Agents Phase 3
18 Antibiotics, Antitubercular Phase 3
19 Gastrointestinal Agents Phase 3
20 Dermatologic Agents Phase 3
21 Antacids Phase 3
22 Vitamin B Complex Phase 3
23 Photosensitizing Agents Phase 3
24 Anti-Infective Agents Phase 3
25 Proton Pump Inhibitors Phase 3
26 Antitubercular Agents Phase 3
27 Anti-Ulcer Agents Phase 3
28 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3,Not Applicable 6829-55-6
29 Folate Nutraceutical Phase 3
30 Vitamin B2 Nutraceutical Phase 3
31 Vitamin B9 Nutraceutical Phase 3
32
Iron Approved Not Applicable 7439-89-6 23925
33
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
34 ferric gluconate Not Applicable
35 Hematinics Not Applicable
36 lysine Nutraceutical Not Applicable
37 carnitine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Endothelial Function in a Sample Group of Patients From the ICARE Study Completed NCT00314379 Phase 2, Phase 3 Vitamin E 400IU/day
2 ERADICATE Hp2 - Treating Helicobacter Pylori With RHB-105 Compared to Active Comparator Recruiting NCT03198507 Phase 3 RHB-105;Active Comparator
3 Relationship of Haptoglobin Phenotype to Vascular Function and Response to Vitamin E Supplementation in Patients With Diabetes Mellitus Type 2: The EVAS Trial Unknown status NCT02776397 Not Applicable
4 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
5 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
6 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 Not Applicable L-Canitine
7 Cognitive Dysfunction in People Who Are Obese But Metabolically Healthy Unknown status NCT01928355
8 Epidemiology of Papillomavirus Infection (HPV) on Infected Women by Human Immunodeficience Virus (HIV) in West Indies and French Guiana. Completed NCT01226368
9 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
10 Haptoglobin Phenotype and Cardiovascular Complications in Diabetic Patients Completed NCT00448487
11 Effect of a Novel Nutraceutical on Weight Loss and Weight Maintenance in Obese Subjects Completed NCT01656681 Not Applicable
12 Effect of Sleep Apnea Treatment on Type 1 Diabetes Completed NCT02316665 Not Applicable
13 Severe Obesity Outcome Network Cohort (SOON) Recruiting NCT02264431
14 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
15 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
16 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Hyperoxaluria, Primary, Type Ii

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:

41
Kidney, Endothelial, Liver

Publications for Hyperoxaluria, Primary, Type Ii

Articles related to Hyperoxaluria, Primary, Type Ii:

(show all 30)
# Title Authors Year
1
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report. ( 29545831 )
2018
2
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29160959 )
2018
3
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29068142 )
2018
4
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2017
5
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. ( 28569194 )
2017
6
Calcified nodules on fingers in primary hyperoxaluria type 2. ( 26542998 )
2015
7
Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2. ( 24597735 )
2014
8
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. ( 24116921 )
2013
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. ( 19296982 )
2009
10
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. ( 17510093 )
2007
11
Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2? ( 16820377 )
2006
12
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. ( 16597637 )
2006
13
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. ( 16306119 )
2005
14
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. ( 14635115 )
2003
15
Primary hyperoxaluria type 2 in children. ( 12185464 )
2002
16
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. ( 11728965 )
2001
17
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? ( 11477177 )
2001
18
Recent developments in our understanding of primary hyperoxaluria type 2. ( 10541261 )
1999
19
Primary hyperoxaluria type 2: enzymology. ( 9604806 )
1998
20
Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2. ( 9463747 )
1998
21
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. ( 9090680 )
1997
22
Primary hyperoxaluria type 2. ( 9243228 )
1997
23
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. ( 8865239 )
1996
24
Primary hyperoxaluria type 2. ( 8592629 )
1995
25
Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or end-stage renal failure. ( 8538930 )
1995
26
End-stage renal failure in primary hyperoxaluria type 2. ( 8177288 )
1994
27
Primary Hyperoxaluria Type 2 ( 20301742 )
1993
28
High-performance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. ( 1458609 )
1992
29
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease. ( 2516173 )
1989
30
L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families. ( 6434867 )
1984

Variations for Hyperoxaluria, Primary, Type Ii

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

6
(show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRHPR NM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs) deletion Pathogenic rs80356708 GRCh37 Chromosome 9, 37424861: 37424861
2 GRHPR NM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs) deletion Pathogenic rs80356708 GRCh38 Chromosome 9, 37424864: 37424864
3 GRHPR NM_012203.1(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh37 Chromosome 9, 37426542: 37426542
4 GRHPR NM_012203.1(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh38 Chromosome 9, 37426545: 37426545
5 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh37 Chromosome 9, 37432134: 37432135
6 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh38 Chromosome 9, 37432137: 37432138
7 GRHPR NM_012203.1(GRHPR): c.248_249delTG (p.Val83Glyfs) deletion Pathogenic rs672601351 GRCh38 Chromosome 9, 37425955: 37425956
8 GRHPR NM_012203.1(GRHPR): c.248_249delTG (p.Val83Glyfs) deletion Pathogenic rs672601351 GRCh37 Chromosome 9, 37425952: 37425953
9 GRHPR NM_012203.1(GRHPR): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic rs180177322 GRCh37 Chromosome 9, 37436696: 37436696
10 GRHPR NM_012203.1(GRHPR): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic rs180177322 GRCh38 Chromosome 9, 37436699: 37436699
11 GRHPR NM_012203.1(GRHPR): c.337G> A (p.Glu113Lys) single nucleotide variant Likely pathogenic rs180177307 GRCh38 Chromosome 9, 37426587: 37426587
12 GRHPR NM_012203.1(GRHPR): c.337G> A (p.Glu113Lys) single nucleotide variant Likely pathogenic rs180177307 GRCh37 Chromosome 9, 37426584: 37426584
13 GRHPR NM_012203.1(GRHPR): c.-4_-3delGCinsAT indel Pathogenic rs796052077 GRCh37 Chromosome 9, 37422744: 37422745
14 GRHPR NM_012203.1(GRHPR): c.-4_-3delGCinsAT indel Pathogenic rs796052077 GRCh38 Chromosome 9, 37422747: 37422748
15 GRHPR NM_012203.1(GRHPR): c.45delA (p.Ala17Profs) deletion Pathogenic rs180177311 GRCh37 Chromosome 9, 37422792: 37422792
16 GRHPR NM_012203.1(GRHPR): c.45delA (p.Ala17Profs) deletion Pathogenic rs180177311 GRCh38 Chromosome 9, 37422795: 37422795
17 GRHPR NM_012203.1(GRHPR): c.83+51delG deletion Uncertain significance rs35891798 GRCh38 Chromosome 9, 37422884: 37422884
18 GRHPR NM_012203.1(GRHPR): c.83+51delG deletion Uncertain significance rs35891798 GRCh37 Chromosome 9, 37422881: 37422881
19 GRHPR NM_012203.1(GRHPR): c.84-13_84-12delCC deletion no interpretation for the single variant rs796052080 GRCh37 Chromosome 9, 37424829: 37424830
20 GRHPR NM_012203.1(GRHPR): c.84-13_84-12delCC deletion no interpretation for the single variant rs796052080 GRCh38 Chromosome 9, 37424832: 37424833
21 GRHPR NM_012203.1(GRHPR): c.84-8_84-5delCCCC deletion no interpretation for the single variant rs180177320 GRCh37 Chromosome 9, 37424834: 37424837
22 GRHPR NM_012203.1(GRHPR): c.84-8_84-5delCCCC deletion no interpretation for the single variant rs180177320 GRCh38 Chromosome 9, 37424837: 37424840
23 GRHPR NM_012203.1(GRHPR): c.84-2A> G single nucleotide variant Pathogenic rs180177319 GRCh37 Chromosome 9, 37424840: 37424840
24 GRHPR NM_012203.1(GRHPR): c.84-2A> G single nucleotide variant Pathogenic rs180177319 GRCh38 Chromosome 9, 37424843: 37424843
25 GRHPR NM_012203.1(GRHPR): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs180177304 GRCh37 Chromosome 9, 37424860: 37424860
26 GRHPR NM_012203.1(GRHPR): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs180177304 GRCh38 Chromosome 9, 37424863: 37424863
27 GRHPR NM_012203.1(GRHPR): c.203T> C (p.Leu68Pro) single nucleotide variant Pathogenic rs180177305 GRCh37 Chromosome 9, 37424961: 37424961
28 GRHPR NM_012203.1(GRHPR): c.203T> C (p.Leu68Pro) single nucleotide variant Pathogenic rs180177305 GRCh38 Chromosome 9, 37424964: 37424964
29 GRHPR NM_012203.1(GRHPR): c.215-11C> T single nucleotide variant Uncertain significance rs796052076 GRCh37 Chromosome 9, 37425908: 37425908
30 GRHPR NM_012203.1(GRHPR): c.215-11C> T single nucleotide variant Uncertain significance rs796052076 GRCh38 Chromosome 9, 37425911: 37425911
31 GRHPR NM_012203.1(GRHPR): c.287G> T (p.Arg96Leu) single nucleotide variant Pathogenic rs796052078 GRCh37 Chromosome 9, 37425991: 37425991
32 GRHPR NM_012203.1(GRHPR): c.287G> T (p.Arg96Leu) single nucleotide variant Pathogenic rs796052078 GRCh38 Chromosome 9, 37425994: 37425994
33 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh37 Chromosome 9, 37426524: 37426524
34 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh38 Chromosome 9, 37426527: 37426527
35 GRHPR NM_012203.1(GRHPR): c.288-2_288delAGT deletion Pathogenic rs796052081 GRCh37 Chromosome 9, 37426533: 37426535
36 GRHPR NM_012203.1(GRHPR): c.288-2_288delAGT deletion Pathogenic rs796052081 GRCh38 Chromosome 9, 37426536: 37426538
37 GRHPR NM_012203.1(GRHPR): c.375delG (p.Leu126Cysfs) deletion Pathogenic rs180177308 GRCh37 Chromosome 9, 37426622: 37426622
38 GRHPR NM_012203.1(GRHPR): c.375delG (p.Leu126Cysfs) deletion Pathogenic rs180177308 GRCh38 Chromosome 9, 37426625: 37426625
39 GRHPR NM_012203.1(GRHPR): c.404+3_404+6delAAGT deletion Likely pathogenic rs180177309 GRCh37 Chromosome 9, 37426654: 37426657
40 GRHPR NM_012203.1(GRHPR): c.404+3_404+6delAAGT deletion Likely pathogenic rs180177309 GRCh38 Chromosome 9, 37426657: 37426660
41 GRHPR NM_012203.1(GRHPR): c.478G> A (p.Gly160Arg) single nucleotide variant Pathogenic rs180177312 GRCh37 Chromosome 9, 37428554: 37428554
42 GRHPR NM_012203.1(GRHPR): c.478G> A (p.Gly160Arg) single nucleotide variant Pathogenic rs180177312 GRCh38 Chromosome 9, 37428557: 37428557
43 GRHPR NM_012203.1(GRHPR): c.493+2T> A single nucleotide variant Likely pathogenic rs180177313 GRCh37 Chromosome 9, 37428571: 37428571
44 GRHPR NM_012203.1(GRHPR): c.493+2T> A single nucleotide variant Likely pathogenic rs180177313 GRCh38 Chromosome 9, 37428574: 37428574
45 GRHPR NM_012203.1(GRHPR): c.493+27C> T single nucleotide variant Uncertain significance rs146896070 GRCh38 Chromosome 9, 37428599: 37428599
46 GRHPR NM_012203.1(GRHPR): c.493+27C> T single nucleotide variant Uncertain significance rs146896070 GRCh37 Chromosome 9, 37428596: 37428596
47 GRHPR NM_012203.1(GRHPR): c.494-68A> G single nucleotide variant Uncertain significance rs309459 GRCh37 Chromosome 9, 37429661: 37429661
48 GRHPR NM_012203.1(GRHPR): c.494-68A> G single nucleotide variant Uncertain significance rs309459 GRCh38 Chromosome 9, 37429664: 37429664
49 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh37 Chromosome 9, 37429729: 37429729
50 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh38 Chromosome 9, 37429732: 37429732

Expression for Hyperoxaluria, Primary, Type Ii

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Pathways for Hyperoxaluria, Primary, Type Ii

GO Terms for Hyperoxaluria, Primary, Type Ii

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