HP2
MCID: HYP602
MIFTS: 31

Hyperoxaluria, Primary, Type Ii (HP2) malady

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

Aliases & Classifications for Hyperoxaluria, Primary, Type Ii

Aliases & Descriptions for Hyperoxaluria, Primary, Type Ii:

Name: Hyperoxaluria, Primary, Type Ii 54 24 13 52
D-Glycerate Dehydrogenase Deficiency 23 50 24 56 66
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 23 50 24 66
Primary Hyperoxaluria Type 2 23 50 56 69
L-Glyceric Aciduria 23 24 56 66
Primary Hyperoxaluria Type Ii 66 29
Glyceric Aciduria 50 66
Hp2 50 66
Glyoxylate Reductase/hydroxypyruvate Reductase 13
Glyoxylate Reductase Deficiency 24
Hyperoxaluria, Primary, Type 2 24
Hyperoxaluria Primary Type Ii 66
Hyperoxaluria Primary 2 66
Oxalosis Ii 66
Oxalosis 2 50
Ph2 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:



External Ids:

OMIM 54 260000
Orphanet 56 ORPHA93599
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 primary hyperoxaluria, and has symptoms including renal insufficiency, aminoaciduria and hematuria. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase). The drugs Vitamin E and Tocopherols have been mentioned in the context of this disorder. Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 66 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 primary hyperoxaluria 11.4
3 d-glycericacidemia 11.0
4 hyperoxaluria, primary, type 1 10.9
5 end stage renal failure 9.9
6 nephrocalcinosis 9.9
7 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 by clinical synopsis from OMIM:

260000

Clinical features from OMIM:

260000

Human phenotypes related to Hyperoxaluria, Primary, Type Ii:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 aminoaciduria 32 HP:0003355
3 hematuria 32 HP:0000790
4 nephrocalcinosis 32 HP:0000121
5 calcium oxalate nephrolithiasis 32 HP:0008672
6 hyperoxaluria 32 HP:0003159

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Ii

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
2 Tocopherols Phase 2, Phase 3
3 Tocotrienols Phase 2, Phase 3
4 Trace Elements Phase 2, Phase 3
5 Vitamins Phase 2, Phase 3
6 Protective Agents Phase 2, Phase 3
7 Micronutrients Phase 2, Phase 3
8 Antioxidants Phase 2, Phase 3
9 Tocopherol Nutraceutical Phase 2, Phase 3
10 Tocotrienol Nutraceutical Phase 2, Phase 3
11
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
12 Histone Deacetylase Inhibitors Phase 2
13
Iron Approved 7439-89-6 23925
14 ferric gluconate
15 Hematinics
16 Anti-Bacterial Agents
17 Antibiotics, Antitubercular
18 lysine Nutraceutical
19 carnitine Nutraceutical
20 methionine Nutraceutical

Interventional clinical trials:

(show all 21)
id Name Status NCT ID Phase
1 Endothelial Function in a Sample Group of Patients From the ICARE Study Completed NCT00314379 Phase 2, Phase 3
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3
3 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3
4 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2
5 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225 Phase 1
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
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 Haptoglobin and Diabetes Complications in Pregnancy Recruiting NCT01758016
16 Severe Obesity Outcome Network Cohort (SOON) Recruiting NCT02264431
17 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
18 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
19 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
20 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
21 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

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 GRCh37 Chromosome 9, 37436696: 37436696
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 GRCh38 Chromosome 9, 37436760: 37436760
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 GRCh37 Chromosome 9, 37425932: 37425932
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 GRCh37 Chromosome 9, 37426651: 37426651
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 GRCh37 Chromosome 9, 37428517: 37428518
36 GRHPR NM_012203.1(GRHPR): c.454dupA (p.Thr152Asnfs) duplication Likely pathogenic rs1057516941 GRCh37 Chromosome 9, 37428530: 37428530
37 GRHPR NM_012203.1(GRHPR): c.515delT (p.Leu172Argfs) deletion Likely pathogenic rs1057516990 GRCh37 Chromosome 9, 37429750: 37429750
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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Pathways for Hyperoxaluria, Primary, Type Ii

GO Terms for Hyperoxaluria, Primary, Type Ii

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