MCID: PRM002
MIFTS: 58

Primary Hyperoxaluria

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

Aliases & Classifications for Primary Hyperoxaluria

MalaCards integrated aliases for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 12 77 26 60 38 30 6 15 74
Hyperoxaluria, Primary 77 26 45
Primary Oxalosis 26 74
Hyperoxaluria 45 74
Oxalosis 26 74
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 26
D-Glycerate Dehydrogenase Deficiency 26
Primary Hyperoxaluria, Type I 74
Primary Hyperoxaluria Type 2 74
Hepatic Agt Deficiency 26
Hyperoxaluria Primary 56
Congenital Oxaluria 26
Glycolic Aciduria 26
Glyceric Aciduria 26
Oxaluria, Primary 26
Primary Oxaluria 26

Characteristics:

Orphanet epidemiological data:

60
primary hyperoxaluria
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:2977
KEGG 38 H00117
NCIt 51 C123158
SNOMED-CT 69 17901006
ICD10 34 E72.53
MESH via Orphanet 46 D006959
ICD10 via Orphanet 35 E74.8
UMLS via Orphanet 75 C0020500 C0020501
Orphanet 60 ORPHA416

Summaries for Primary Hyperoxaluria

Genetics Home Reference : 26 Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

MalaCards based summary : Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to nephrolithiasis, calcium oxalate and peroxisomal disease, and has symptoms including bone pain An important gene associated with Primary Hyperoxaluria is AGXT (Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Glyoxylate and dicarboxylate metabolism. The drugs Calcium and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone marrow, and related phenotypes are failure to thrive and abnormality of the dentition

Wikipedia : 77 Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of... more...

Related Diseases for Primary Hyperoxaluria

Diseases in the Primary Hyperoxaluria family:

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

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 32.3 AGXT GRHPR
2 peroxisomal disease 29.5 AGXT PEX5
3 d-glyceric aciduria 12.9
4 hyperoxaluria, primary, type ii 12.4
5 hyperoxaluria, primary, type i 12.3
6 hyperoxaluria, primary, type iii 12.3
7 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
8 hydroxycarboxylic aciduria 11.2
9 crystal arthropathies 11.1
10 nephrocalcinosis 10.5
11 end stage renal failure 10.3
12 glycine encephalopathy 10.3
13 kidney disease 10.3
14 renal osteodystrophy 10.2
15 steatorrhea 10.2
16 intestinal disease 10.2
17 west syndrome 10.2
18 encephalopathy 10.2
19 rickets 10.1
20 atrial standstill 1 10.1
21 nephrolithiasis 10.1
22 hypothyroidism 10.1
23 peripheral nervous system disease 10.1
24 neuropathy 10.1
25 leptin deficiency or dysfunction 10.1
26 pulmonary aspergilloma 10.0
27 aspergillus niger infection 10.0
28 peroxisomal acyl-coa oxidase deficiency 10.0 AGXT PEX5
29 bone disease 10.0
30 pancytopenia 10.0
31 calcinosis 10.0
32 thrombophilia 10.0
33 adenosine deaminase deficiency 10.0
34 chronic kidney failure 10.0
35 ureteral obstruction 10.0
36 renal tubular acidosis, distal 10.0
37 carbohydrate metabolic disorder 9.9 AGXT GRHPR HOGA1
38 fundus albipunctatus 9.9
39 3-methylglutaconic aciduria, type iii 9.9
40 aspergillosis 9.9
41 arthritis 9.9
42 spinal stenosis 9.9
43 bone resorption disease 9.9
44 osteomalacia 9.9
45 short bowel syndrome 9.9
46 interstitial nephritis 9.9
47 secondary hyperparathyroidism 9.9
48 hyperparathyroidism 9.9
49 beriberi 9.9
50 myelophthisic anemia 9.9

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



Diseases related to Primary Hyperoxaluria

Symptoms & Phenotypes for Primary Hyperoxaluria

Human phenotypes related to Primary Hyperoxaluria:

60 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 Frequent (79-30%)
2 abnormality of the dentition 60 Frequent (79-30%)
3 optic atrophy 60 Frequent (79-30%)
4 retinopathy 60 Frequent (79-30%)
5 acrocyanosis 60 Occasional (29-5%)
6 generalized osteosclerosis 60 Frequent (79-30%)
7 peripheral neuropathy 60 Frequent (79-30%)
8 elevated hepatic transaminase 60 Frequent (79-30%)
9 cardiomyopathy 60 Very rare (<4-1%)
10 reduced visual acuity 60 Frequent (79-30%)
11 hypercalciuria 60 Occasional (29-5%)
12 heart block 60 Frequent (79-30%)
13 hematuria 60 Frequent (79-30%)
14 nephrocalcinosis 60 Frequent (79-30%)
15 recurrent fractures 60 Frequent (79-30%)
16 bone pain 60 Frequent (79-30%)
17 optic disc pallor 60 Frequent (79-30%)
18 metabolic acidosis 60 Frequent (79-30%)
19 gangrene 60 Frequent (79-30%)
20 cutis marmorata 60 Very rare (<4-1%)
21 chronic kidney disease 60 Frequent (79-30%)
22 raynaud phenomenon 60 Frequent (79-30%)
23 stage 5 chronic kidney disease 60 Occasional (29-5%)
24 abnormality of the dental pulp 60 Frequent (79-30%)
25 intermittent claudication 60 Frequent (79-30%)
26 hyperoxaluria 60 Very frequent (99-80%)
27 calcium oxalate nephrolithiasis 60 Very frequent (99-80%)
28 rootless teeth 60 Frequent (79-30%)
29 choroidal neovascularization 60 Frequent (79-30%)
30 aciduria 60 Frequent (79-30%)
31 arterial occlusion 60 Frequent (79-30%)
32 elevated urine glycolate 60 Frequent (79-30%)
33 calcinosis cutis 60 Very rare (<4-1%)

UMLS symptoms related to Primary Hyperoxaluria:


bone pain

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.1 AGXT2 GPI GRHPR GSR HSPA8 PRODH2

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 AGXT AGXT2 GRHPR HOGA1 PEX5

Drugs & Therapeutics for Primary Hyperoxaluria

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 2, Phase 3,Phase 1,Not Applicable 7440-70-2 271
2 Calcium, Dietary Phase 2, Phase 3,Phase 1,Not Applicable
3 Bone Density Conservation Agents Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5 Protective Agents Phase 3,Not Applicable
6 Antihypertensive Agents Phase 3,Not Applicable
7
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
8
Pravastatin Approved Phase 2 81093-37-0 54687
9
Zoledronic Acid Approved Phase 2 118072-93-8 68740
10
Stiripentol Approved Phase 2 49763-96-4
11
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
12
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
15
Lonafarnib Investigational Phase 2 193275-84-2 148195
16 Vitamin B 6 Phase 2
17 Vitamins Phase 2,Not Applicable
18 Trace Elements Phase 2,Not Applicable
19 Vitamin B Complex Phase 2
20 Vitamin B9 Phase 2
21 Nutrients Phase 2,Not Applicable
22 Folate Phase 2
23 Pharmaceutical Solutions Phase 2,Phase 1
24 Micronutrients Phase 2,Not Applicable
25 Hypolipidemic Agents Phase 2
26 Lipid Regulating Agents Phase 2
27 Antimetabolites Phase 2
28 Gastrointestinal Agents Phase 2,Not Applicable
29 leucine Phase 1, Phase 2
30 Histone Deacetylase Inhibitors Phase 2
31 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
32 Anticholesteremic Agents Phase 2
33 Anticonvulsants Phase 2
34
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
35 Liver Extracts Phase 1
36
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
37
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
38
Clarithromycin Approved Not Applicable 81103-11-9 84029
39
Amoxicillin Approved, Vet_approved Not Applicable 26787-78-0 33613
40
Metronidazole Approved Not Applicable 443-48-1 4173
41
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
42
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
43
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
44
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
45
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
46 Tocotrienol Investigational Not Applicable 6829-55-6
47 lysine Not Applicable
48 ferric gluconate Not Applicable
49 carnitine Not Applicable
50 Hematinics Not Applicable

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Completed NCT00638703 Phase 2, Phase 3 Placebo
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
3 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
4 A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 Recruiting NCT03905694 Phase 3 Lumasiran
5 A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 Recruiting NCT03681184 Phase 3 Lumasiran;Sterile Normal Saline (0.9% NaCl)
6 A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Recruiting NCT03116685 Phase 3
7 An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Recruiting NCT03938272 Phase 3
8 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
9 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
10 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2 Placebo capsules
11 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Completed NCT02706886 Phase 1, Phase 2 Lumasiran;Sterile Normal Saline (0.9% NaCl)
12 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
13 Hydroxyproline Influence on Oxalate Metabolism Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
14 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2 vorinostat
15 Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Recruiting NCT03391804 Phase 2 ALLN-177
16 A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 Recruiting NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
17 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Active, not recruiting NCT02000219 Phase 2
18 An Extension Study of an Investigational Drug, ALN-GO1, in Patients With Primary Hyperoxaluria Type 1 Enrolling by invitation NCT03350451 Phase 2 ALN-GO1
19 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
20 Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria Not yet recruiting NCT03819647 Phase 2 stiripentol (Diacomit)
21 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
22 Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria Active, not recruiting NCT03392896 Phase 1 DCR-PHXC;Placebo
23 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1 C-13 labeled oxalate
24 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PH1
25 Proteomics of Primary Hyperoxaluria Type 1 Unknown status NCT03067142
26 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
27 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 Not Applicable L-Canitine
28 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
29 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225
30 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009 Not Applicable
31 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
32 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994 Not Applicable
33 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786 Not Applicable Quadruple therapy;Triple therapy
34 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
35 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
36 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Recruiting NCT02794649
37 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
38 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
39 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
40 Comparison of the Impact of Diet vs Thiazide in BMD in Children With Idiopathic Hypercalciuria Recruiting NCT03951558 Not Applicable Hydrochlorothiazide
41 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
42 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
43 Clinical Evaluation of the Lenstec Softec HP1 Intraocular Lens Not yet recruiting NCT03900260 Not Applicable
44 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Primary Hyperoxaluria

Cochrane evidence based reviews: hyperoxaluria, primary

Genetic Tests for Primary Hyperoxaluria

Genetic tests related to Primary Hyperoxaluria:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria 30

Anatomical Context for Primary Hyperoxaluria

MalaCards organs/tissues related to Primary Hyperoxaluria:

42
Kidney, Testes, Bone Marrow, Skin, Liver, Eye, Spinal Cord

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 739)
# Title Authors Year
1
Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association. ( 30889567 )
2019
2
Nephrogenic systemic fibrosis: in a child with primary hyperoxaluria. ( 30198190 )
2019
3
Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria. ( 30373392 )
2019
4
Molecular basis of primary hyperoxaluria: clues to innovative treatments. ( 30430197 )
2019
5
Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience. ( 30475440 )
2019
6
Re: Metabolic Profile and Impact of Diet in Patients with Primary Hyperoxaluria. ( 30634332 )
2019
7
Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I. ( 30635080 )
2019
8
Systemic Alanine Glyoxylate Aminotransferase Messenger RNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1. ( 30676254 )
2019
9
Are two operations better than one? The debate over combined versus sequential liver-kidney transplantation from a single live donor in the treatment of primary hyperoxaluria 1. ( 31081215 )
2019
10
The ocular phenotype in primary hyperoxaluria type 1. ( 31078535 )
2019
11
Reduction in urinary oxalate excretion in mouse models of Primary Hyperoxaluria by RNA interference inhibition of liver lactate dehydrogenase activity. ( 31055082 )
2019
12
Re: CRISPR/Cas9-Mediated Glycolate Oxidase Disruption is an Efficacious and Safe Treatment for Primary Hyperoxaluria Type I. ( 31009976 )
2019
13
The experience of combined and sequential liver and kidney transplantation from a single living donor in patients with primary hyperoxaluria type 1. ( 30932299 )
2019
14
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation. ( 30787879 )
2019
15
Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I. ( 30276532 )
2019
16
Paraplegia as a presentation of primary hyperoxaluria. ( 29959618 )
2018
17
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report. ( 30397603 )
2018
18
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones. ( 30488096 )
2018
19
Generation of a Primary Hyperoxaluria Type 1 Disease Model Via CRISPR/Cas9 System in Rats. ( 30539697 )
2018
20
Novel therapeutic approaches in primary hyperoxaluria. ( 30540923 )
2018
21
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population. ( 30541997 )
2018
22
CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I. ( 30575740 )
2018
23
Liver-kidney simultaneous transplantation in adult patients with primary hyperoxaluria. Experience at Hospital Universitario 12 de Octubre. ( 29106285 )
2018
24
Type 1 primary hyperoxaluria: A case report and focus on bone impairment of systemic oxalosis. ( 29102553 )
2018
25
Folding Defects Leading to Primary Hyperoxaluria. ( 29071511 )
2018
26
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29068142 )
2018
27
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals. ( 29066173 )
2018
28
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 28718073 )
2018
29
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2018
30
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. ( 28660284 )
2018
31
Multimodal Imaging Findings in Primary Hyperoxaluria. ( 31047557 )
2018
32
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. ( 30341509 )
2018
33
Imaging features of primary hyperoxaluria. ( 30253334 )
2018
34
Recurrent oxalosis in a combined liver-kidney transplant patient with primary hyperoxaluria type 1 resulting in graft failure. ( 30251314 )
2018
35
Targeting kidney inflammation as a new therapy for primary hyperoxaluria? ( 30169827 )
2018
36
Metabolic profile and impact of diet in patients with primary hyperoxaluria. ( 30039216 )
2018
37
Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1. ( 30028141 )
2018
38
Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster. ( 29980178 )
2018
39
Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria. ( 29914758 )
2018
40
Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report. ( 29882304 )
2018
41
Metabolite diagnosis of primary hyperoxaluria type 3. ( 29705963 )
2018
42
Re: Plasma Oxalate in Relation to eGFR in Patients with Primary Hyperoxaluria, Enteric Hyperoxaluria and Urinary Stone Disease. ( 29642351 )
2018
43
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III. ( 29637271 )
2018
44
Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria. ( 29588429 )
2018
45
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report. ( 29545831 )
2018
46
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital. ( 29456205 )
2018
47
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1. ( 29244539 )
2018
48
Bilateral native nephrectomy to reduce oxalate stores in children at the time of combined liver-kidney transplantation for primary hyperoxaluria type 1. ( 29243158 )
2018
49
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29160959 )
2018
50
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6. ( 29110180 )
2018

Variations for Primary Hyperoxaluria

ClinVar genetic disease variations for Primary Hyperoxaluria:

6 (show top 50) (show all 192)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRHPR NM_012203.1(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh37 Chromosome 9, 37426542: 37426542
2 GRHPR NM_012203.1(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh38 Chromosome 9, 37426545: 37426545
3 AGXT NM_000030.2(AGXT): c.32C> T (p.Pro11Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34116584 GRCh37 Chromosome 2, 241808314: 241808314
4 AGXT NM_000030.2(AGXT): c.32C> T (p.Pro11Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34116584 GRCh38 Chromosome 2, 240868897: 240868897
5 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
6 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh38 Chromosome 2, 240875159: 240875159
7 GRHPR NM_012203.1(GRHPR): c.579A> G (p.Ala193=) single nucleotide variant Benign rs309458 GRCh37 Chromosome 9, 37429814: 37429814
8 GRHPR NM_012203.1(GRHPR): c.579A> G (p.Ala193=) single nucleotide variant Benign rs309458 GRCh38 Chromosome 9, 37429817: 37429817
9 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh37 Chromosome 2, 241810850: 241810850
10 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh38 Chromosome 2, 240871433: 240871433
11 AGXT NM_000030.2(AGXT): c.1020A> G (p.Ile340Met) single nucleotide variant Conflicting interpretations of pathogenicity rs4426527 GRCh37 Chromosome 2, 241817516: 241817516
12 AGXT NM_000030.2(AGXT): c.1020A> G (p.Ile340Met) single nucleotide variant Conflicting interpretations of pathogenicity rs4426527 GRCh38 Chromosome 2, 240878099: 240878099
13 AGXT NM_000030.2(AGXT): c.557C> T (p.Ala186Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117195882 GRCh37 Chromosome 2, 241812428: 241812428
14 AGXT NM_000030.2(AGXT): c.557C> T (p.Ala186Val) single nucleotide variant Conflicting interpretations of pathogenicity rs117195882 GRCh38 Chromosome 2, 240873011: 240873011
15 AGXT NM_000030.2(AGXT): c.590G> A (p.Arg197Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34664134 GRCh37 Chromosome 2, 241812461: 241812461
16 AGXT NM_000030.2(AGXT): c.590G> A (p.Arg197Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34664134 GRCh38 Chromosome 2, 240873044: 240873044
17 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh37 Chromosome 9, 37432134: 37432135
18 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh38 Chromosome 9, 37432137: 37432138
19 AGXT NM_000030.2(AGXT): c.654G> A (p.Ser218=) single nucleotide variant Conflicting interpretations of pathogenicity rs33958047 GRCh37 Chromosome 2, 241813453: 241813453
20 AGXT NM_000030.2(AGXT): c.654G> A (p.Ser218=) single nucleotide variant Conflicting interpretations of pathogenicity rs33958047 GRCh38 Chromosome 2, 240874036: 240874036
21 AGXT NM_000030.2(AGXT): c.35A> G (p.Lys12Arg) single nucleotide variant Uncertain significance rs142969817 GRCh37 Chromosome 2, 241808317: 241808317
22 AGXT NM_000030.2(AGXT): c.35A> G (p.Lys12Arg) single nucleotide variant Uncertain significance rs142969817 GRCh38 Chromosome 2, 240868900: 240868900
23 AGXT NM_000030.2(AGXT): c.65A> G (p.Asn22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34885252 GRCh37 Chromosome 2, 241808347: 241808347
24 AGXT NM_000030.2(AGXT): c.65A> G (p.Asn22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34885252 GRCh38 Chromosome 2, 240868930: 240868930
25 AGXT NM_000030.2(AGXT): c.264C> T (p.Ala88=) single nucleotide variant Conflicting interpretations of pathogenicity rs35698882 GRCh37 Chromosome 2, 241808685: 241808685
26 AGXT NM_000030.2(AGXT): c.264C> T (p.Ala88=) single nucleotide variant Conflicting interpretations of pathogenicity rs35698882 GRCh38 Chromosome 2, 240869268: 240869268
27 AGXT NM_000030.2(AGXT): c.358+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs34995778 GRCh38 Chromosome 2, 240869375: 240869375
28 AGXT NM_000030.2(AGXT): c.358+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs34995778 GRCh37 Chromosome 2, 241808792: 241808792
29 AGXT NM_000030.2(AGXT): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs147601535 GRCh38 Chromosome 2, 240871414: 240871414
30 AGXT NM_000030.2(AGXT): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs147601535 GRCh37 Chromosome 2, 241810831: 241810831
31 AGXT NM_000030.2(AGXT): c.705G> A (p.Thr235=) single nucleotide variant Likely benign rs35977912 GRCh37 Chromosome 2, 241814550: 241814550
32 AGXT NM_000030.2(AGXT): c.705G> A (p.Thr235=) single nucleotide variant Likely benign rs35977912 GRCh38 Chromosome 2, 240875133: 240875133
33 AGXT NM_000030.3(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh37 Chromosome 2, 241816990: 241816990
34 AGXT NM_000030.3(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh38 Chromosome 2, 240877573: 240877573
35 AGXT NM_000030.2(AGXT): c.*19G> A single nucleotide variant Uncertain significance rs143458283 GRCh37 Chromosome 2, 241818257: 241818257
36 AGXT NM_000030.2(AGXT): c.*19G> A single nucleotide variant Uncertain significance rs143458283 GRCh38 Chromosome 2, 240878840: 240878840
37 AGXT NM_000030.2(AGXT): c.*41C> A single nucleotide variant Benign rs4273214 GRCh37 Chromosome 2, 241818279: 241818279
38 AGXT NM_000030.2(AGXT): c.*41C> A single nucleotide variant Benign rs4273214 GRCh38 Chromosome 2, 240878862: 240878862
39 AGXT NM_000030.2(AGXT): c.*289A> C single nucleotide variant Benign rs4344931 GRCh37 Chromosome 2, 241818527: 241818527
40 AGXT NM_000030.2(AGXT): c.*289A> C single nucleotide variant Benign rs4344931 GRCh38 Chromosome 2, 240879110: 240879110
41 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh37 Chromosome 9, 37426524: 37426524
42 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh38 Chromosome 9, 37426527: 37426527
43 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh37 Chromosome 9, 37429729: 37429729
44 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh38 Chromosome 9, 37429732: 37429732
45 GRHPR NM_012203.1(GRHPR): c.734+9G> A single nucleotide variant Likely benign rs56401536 GRCh38 Chromosome 9, 37430655: 37430655
46 GRHPR NM_012203.1(GRHPR): c.734+9G> A single nucleotide variant Likely benign rs56401536 GRCh37 Chromosome 9, 37430652: 37430652
47 GRHPR NM_012203.1(GRHPR): c.963G> A (p.Pro321=) single nucleotide variant Uncertain significance rs76299266 GRCh37 Chromosome 9, 37436755: 37436755
48 GRHPR NM_012203.1(GRHPR): c.963G> A (p.Pro321=) single nucleotide variant Uncertain significance rs76299266 GRCh38 Chromosome 9, 37436758: 37436758
49 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810
50 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh37 Chromosome 10, 99344567: 99344567

Expression for Primary Hyperoxaluria

Search GEO for disease gene expression data for Primary Hyperoxaluria.

Pathways for Primary Hyperoxaluria

Pathways related to Primary Hyperoxaluria according to KEGG:

38
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Glyoxylate and dicarboxylate metabolism hsa00630

GO Terms for Primary Hyperoxaluria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 AGXT AGXT2 GSR HOGA1
2 peroxisome GO:0005777 9.43 AGXT HAO1 PEX5
3 mitochondrion GO:0005739 9.43 AGXT AGXT2 GSR HOGA1 PEX5 PRODH2
4 peroxisomal matrix GO:0005782 8.8 AGXT GRHPR HAO1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.71 GRHPR GSR HAO1 PRODH2
2 protein targeting to peroxisome GO:0006625 9.5 AGXT HAO1 PEX5
3 pyruvate biosynthetic process GO:0042866 9.37 AGXT HOGA1
4 cellular nitrogen compound metabolic process GO:0034641 9.33 AGXT GRHPR HAO1
5 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.26 AGXT AGXT2
6 glyoxylate catabolic process GO:0009436 9.13 AGXT AGXT2 HOGA1
7 glyoxylate metabolic process GO:0046487 9.02 AGXT AGXT2 GRHPR HOGA1 PRODH2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 GRHPR GSR HAO1 PRODH2
2 pyridoxal phosphate binding GO:0030170 9.32 AGXT AGXT2
3 NADP binding GO:0050661 9.26 GRHPR GSR
4 transaminase activity GO:0008483 8.96 AGXT AGXT2
5 alanine-glyoxylate transaminase activity GO:0008453 8.62 AGXT AGXT2

Sources for Primary Hyperoxaluria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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