MCID: HYP602
MIFTS: 34

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 54 24 13 52
D-Glycerate Dehydrogenase Deficiency 23 50 24 56 71
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 23 50 24 71
Primary Hyperoxaluria Type 2 23 50 56 69
L-Glyceric Aciduria 23 24 56 71
Glyceric Aciduria 50 71
Hp2 50 71
Glyoxylate Reductase/hydroxypyruvate Reductase 13
Glyoxylate Reductase Deficiency 24
Hyperoxaluria, Primary, Type 2 24
Primary Hyperoxaluria, Type Ii 29
Hyperoxaluria Primary Type Ii 71
Primary Hyperoxaluria Type Ii 71
Hyperoxaluria Primary 2 71
Oxalosis Ii 71
Oxalosis 2 50
Ph2 71

Characteristics:

Orphanet epidemiological data:

56
primary hyperoxaluria type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

54
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 54 260000
Orphanet 56 ORPHA93599
UMLS via Orphanet 70 C0268165
ICD10 via Orphanet 34 E74.8
MedGen 40 C0268165
MeSH 42 D006960

Summaries for Hyperoxaluria, Primary, Type Ii

NIH Rare Diseases : 50 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. last updated: 1/3/2013

MalaCards based summary : Hyperoxaluria, Primary, Type Ii, also known as d-glycerate dehydrogenase deficiency, is related to d-glyceric aciduria and d-glycericacidemia, and has symptoms including nephrolithiasis, nephrocalcinosis and recurrent urinary tract infections. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase). The drugs Amoxicillin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and endothelial.

UniProtKB/Swiss-Prot : 71 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 1 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:

id Related Disease Score Top Affiliating Genes
1 d-glyceric aciduria 12.5
2 d-glycericacidemia 11.7
3 primary hyperoxaluria 10.5
4 hepatocellular carcinoma 10.2
5 hepatitis 10.2
6 end stage renal failure 9.9
7 nephrocalcinosis 9.9
8 malaria 9.9

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:

54

Genitourinary- Kidneys:
nephrocalcinosis
hematuria
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:

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

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Ii

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613 2171
2
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
3
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
4
Rifabutin Approved Phase 3 72559-06-9 6323490
5 Tocopherol Approved, Nutraceutical Phase 2, Phase 3
6
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
8
Riboflavin Approved, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
9 tannic acid Approved, Nutraceutical Phase 3
10 Antioxidants Phase 2, Phase 3
11 Micronutrients Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13 Tocopherols Phase 2, Phase 3
14 Tocotrienols Phase 2, Phase 3
15 Trace Elements Phase 2, Phase 3
16 Vitamins Phase 2, Phase 3
17 Anti-Bacterial Agents Phase 3
18 Antibiotics, Antitubercular Phase 3
19 Antacids Phase 3
20 Anti-Infective Agents Phase 3
21 Antitubercular Agents Phase 3
22 Anti-Ulcer Agents Phase 3
23 Dermatologic Agents Phase 3
24 Gastrointestinal Agents Phase 3
25 Photosensitizing Agents Phase 3
26
Proton pump inhibitors Phase 3
27 Vitamin B Complex Phase 3
28 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3 6829-55-6
29 Folate Nutraceutical Phase 3
30 Vitamin B2 Nutraceutical Phase 3
31 Vitamin B9 Nutraceutical Phase 3
32
Iron Approved 7439-89-6 23925
33 ferric gluconate
34 Hematinics
35 carnitine Nutraceutical
36 lysine Nutraceutical
37 methionine Nutraceutical

Interventional clinical trials:

(show all 19)

id 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 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
3 ERADICATE Hp2 - Treating Helicobacter Pylori With RHB-105 Compared to Active Comparator Recruiting NCT03198507 Phase 3 RHB-105;Active Comparator
4 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225 Phase 1
5 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
6 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
7 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 L-Canitine
8 Cognitive Dysfunction in People Who Are Obese But Metabolically Healthy Unknown status NCT01928355
9 Effect of a Novel Nutraceutical on Weight Loss and Weight Maintenance in Obese Subjects Unknown status NCT01656681
10 Epidemiology of Papillomavirus Infection (HPV) on Infected Women by Human Immunodeficience Virus (HIV) in West Indies and French Guiana. Completed NCT01226368
11 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
12 Haptoglobin Phenotype and Cardiovascular Complications in Diabetic Patients Completed NCT00448487
13 Effect of Sleep Apnea Treatment on Type 1 Diabetes Completed NCT02316665
14 Relationship of Haptoglobin Phenotype to Vascular Function and Response to Vitamin E Supplementation in Patients With Diabetes Mellitus Type 2: The EVAS Trial Recruiting NCT02776397
15 Severe Obesity Outcome Network Cohort (SOON) Recruiting NCT02264431
16 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
17 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
18 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
19 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:

id Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type Ii 29
2 Hyperoxaluria, Primary, Type 2 24 GRHPR

Anatomical Context for Hyperoxaluria, Primary, Type Ii

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

39
Kidney, Endothelial

Publications for Hyperoxaluria, Primary, Type Ii

Variations for Hyperoxaluria, Primary, Type Ii

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

6 (show all 40)
id 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.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh37 Chromosome 9, 37426542: 37426542
3 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh37 Chromosome 9, 37432134: 37432135
4 GRHPR NM_012203.1(GRHPR): c.248_249delTG (p.Val83Glyfs) deletion Pathogenic rs672601351 GRCh38 Chromosome 9, 37425955: 37425956
5 GRHPR NM_012203.1(GRHPR): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic rs180177322 GRCh38 Chromosome 9, 37436699: 37436699
6 GRHPR NM_012203.1(GRHPR): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177307 GRCh38 Chromosome 9, 37426587: 37426587
7 GRHPR NM_012203.1(GRHPR): c.-4_-3delGCinsAT indel Pathogenic rs796052077 GRCh37 Chromosome 9, 37422744: 37422745
8 GRHPR NM_012203.1(GRHPR): c.45delA (p.Ala17Profs) deletion Pathogenic rs180177311 GRCh37 Chromosome 9, 37422792: 37422792
9 GRHPR NM_012203.1(GRHPR): c.84-2A> G single nucleotide variant Pathogenic rs180177319 GRCh37 Chromosome 9, 37424840: 37424840
10 GRHPR NM_012203.1(GRHPR): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs180177304 GRCh37 Chromosome 9, 37424860: 37424860
11 GRHPR NM_012203.1(GRHPR): c.203T> C (p.Leu68Pro) single nucleotide variant Pathogenic rs180177305 GRCh37 Chromosome 9, 37424961: 37424961
12 GRHPR NM_012203.1(GRHPR): c.287G> T (p.Arg96Leu) single nucleotide variant Pathogenic rs796052078 GRCh37 Chromosome 9, 37425991: 37425991
13 GRHPR NM_012203.1(GRHPR): c.288-2_288delAGT deletion Pathogenic rs796052081 GRCh37 Chromosome 9, 37426533: 37426535
14 GRHPR NM_012203.1(GRHPR): c.375delG (p.Leu126Cysfs) deletion Pathogenic rs180177308 GRCh37 Chromosome 9, 37426622: 37426622
15 GRHPR NM_012203.1(GRHPR): c.404+3_404+6delAAGT deletion Pathogenic/Likely pathogenic rs180177309 GRCh37 Chromosome 9, 37426654: 37426657
16 GRHPR NM_012203.1(GRHPR): c.478G> A (p.Gly160Arg) single nucleotide variant Pathogenic rs180177312 GRCh37 Chromosome 9, 37428554: 37428554
17 GRHPR NM_012203.1(GRHPR): c.493+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs180177313 GRCh37 Chromosome 9, 37428571: 37428571
18 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh37 Chromosome 9, 37429729: 37429729
19 GRHPR NM_012203.1(GRHPR): c.540delT (p.Leu181Cysfs) deletion Pathogenic rs180177315 GRCh37 Chromosome 9, 37429775: 37429775
20 GRHPR NM_012203.1(GRHPR): c.608_609delCT (p.Pro203Argfs) deletion Pathogenic rs180177316 GRCh37 Chromosome 9, 37430517: 37430518
21 GRHPR NM_012203.1(GRHPR): c.694delC (p.Gln232Argfs) deletion Pathogenic rs796052082 GRCh38 Chromosome 9, 37430606: 37430606
22 GRHPR NM_012203.1(GRHPR): c.735-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs180177317 GRCh37 Chromosome 9, 37432004: 37432004
23 GRHPR NM_012203.1(GRHPR): c.743T> A (p.Val248Asp) single nucleotide variant Pathogenic rs796052079 GRCh37 Chromosome 9, 37432013: 37432013
24 GRHPR NM_012203.1(GRHPR): c.905G> A (p.Arg302His) single nucleotide variant Pathogenic rs180177323 GRCh38 Chromosome 9, 37436700: 37436700
25 GRHPR NM_012203.1(GRHPR): c.934A> G (p.Asn312Asp) single nucleotide variant Pathogenic rs180177324 GRCh38 Chromosome 9, 37436729: 37436729
26 GRHPR NM_012203.1(GRHPR): c.965T> C (p.Met322Thr) single nucleotide variant Pathogenic rs180177325 GRCh37 Chromosome 9, 37436757: 37436757
27 GRHPR NM_012203.1(GRHPR): c.965T> G (p.Met322Arg) single nucleotide variant Pathogenic rs180177325 GRCh37 Chromosome 9, 37436757: 37436757
28 GRHPR NG_008135.1 insertion Pathogenic
29 GRHPR NM_012203.1(GRHPR): c.154delG (p.Ala52Profs) deletion Likely pathogenic rs1057517216 GRCh38 Chromosome 9, 37424915: 37424915
30 GRHPR NM_012203.1(GRHPR): c.214+2T> G single nucleotide variant Likely pathogenic rs1057517398 GRCh37 Chromosome 9, 37424974: 37424974
31 GRHPR NM_012203.1(GRHPR): c.228dupA (p.Val77Serfs) duplication Likely pathogenic rs1057517238 GRCh38 Chromosome 9, 37425935: 37425935
32 GRHPR NM_012203.1(GRHPR): c.337G> T (p.Glu113Ter) single nucleotide variant Likely pathogenic rs180177307 GRCh38 Chromosome 9, 37426587: 37426587
33 GRHPR NM_012203.1(GRHPR): c.404delA (p.Asn135Metfs) deletion Likely pathogenic rs1057516299 GRCh38 Chromosome 9, 37426654: 37426654
34 GRHPR NM_012203.1(GRHPR): c.435_436delGC (p.Trp145Cysfs) deletion Likely pathogenic rs1057517333 GRCh38 Chromosome 9, 37428514: 37428515
35 GRHPR NM_012203.1(GRHPR): c.441_442delTG (p.Cys147Trpfs) deletion Likely pathogenic rs1057517026 GRCh38 Chromosome 9, 37428520: 37428521
36 GRHPR NM_012203.1(GRHPR): c.454dupA (p.Thr152Asnfs) duplication Likely pathogenic rs1057516941 GRCh38 Chromosome 9, 37428533: 37428533
37 GRHPR NM_012203.1(GRHPR): c.515delT (p.Leu172Argfs) deletion Likely pathogenic rs1057516990 GRCh38 Chromosome 9, 37429753: 37429753
38 GRHPR NM_012203.1(GRHPR): c.597delT (p.Phe199Leufs) deletion Likely pathogenic rs1057516292 GRCh37 Chromosome 9, 37429832: 37429832
39 GRHPR NM_012203.1(GRHPR): c.755dupA (p.Asp252Glufs) duplication Likely pathogenic rs1057516823 GRCh38 Chromosome 9, 37432028: 37432028
40 GRHPR NM_012203.1(GRHPR): c.954delA (p.Glu320Serfs) deletion Likely pathogenic rs1057516831 GRCh37 Chromosome 9, 37436746: 37436746

Expression for Hyperoxaluria, Primary, Type Ii

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GO Terms for Hyperoxaluria, Primary, Type Ii

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