MCID: PRM002
MIFTS: 54

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, liver and bone, and related phenotypes are shRNA abundance <= 50% and renal/urinary system

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 106)
# 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 12.3
5 hyperoxaluria, primary, type i 12.1
6 hyperoxaluria, primary, type iii 11.9
7 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.1
8 hydroxycarboxylic aciduria 11.1
9 crystal arthropathies 11.1
10 nephrocalcinosis 10.4
11 end stage renal failure 10.3
12 renal osteodystrophy 10.2
13 west syndrome 10.2
14 encephalopathy 10.2
15 steatorrhea 10.2
16 intestinal disease 10.2
17 kidney disease 10.2
18 rickets 10.1
19 atrial standstill 1 10.1
20 distal trisomy 9q 10.1
21 nephrolithiasis 10.1
22 hypothyroidism 10.1
23 peripheral nervous system disease 10.1
24 neuropathy 10.1
25 morbid obesity 10.0
26 peroxisomal acyl-coa oxidase deficiency 10.0 AGXT PEX5
27 pulmonary aspergilloma 10.0
28 aspergillus niger infection 10.0
29 bone disease 10.0
30 pancytopenia 10.0
31 calcinosis 10.0
32 thrombophilia 10.0
33 ureteral obstruction 10.0
34 renal tubular acidosis, distal 10.0
35 carbohydrate metabolic disorder 9.9 AGXT GRHPR HOGA1
36 fundus albipunctatus 9.9
37 neuroblastoma 9.9
38 3-methylglutaconic aciduria, type iii 9.9
39 aspergillosis 9.9
40 arthritis 9.9
41 joint disorders 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

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 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7440-70-2 271
2 Calcium, Dietary Phase 2, Phase 3,Phase 1
3 Bone Density Conservation Agents Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5 Protective Agents Phase 3,Not Applicable
6
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
7
Zoledronic Acid Approved Phase 2 118072-93-8 68740
8
Pravastatin Approved Phase 2 81093-37-0 54687
9
Stiripentol Approved Phase 2 49763-96-4
10
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
11
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
14
Lonafarnib Investigational Phase 2 193275-84-2 148195
15 Vitamins Phase 2,Not Applicable
16 Trace Elements Phase 2,Not Applicable
17 Vitamin B Complex Phase 2
18 Nutrients Phase 2,Not Applicable
19 Micronutrients Phase 2,Not Applicable
20 Folate Phase 2
21 Vitamin B9 Phase 2
22 Vitamin B 6 Phase 2
23 Pharmaceutical Solutions Phase 2,Phase 1
24 Gastrointestinal Agents Phase 2,Not Applicable
25 Lipid Regulating Agents Phase 2
26 Antimetabolites Phase 2
27 Hypolipidemic Agents Phase 2
28 leucine Phase 1, Phase 2
29 Histone Deacetylase Inhibitors Phase 2
30 Anticholesteremic Agents Phase 2
31 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
32 Anticonvulsants Phase 2
33
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
34 Liver Extracts Phase 1
35
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 23925 27284
36
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
37
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
38
Amoxicillin Approved, Vet_approved Not Applicable 26787-78-0 33613
39
Metronidazole Approved Not Applicable 443-48-1 4173
40
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
41
Clarithromycin Approved Not Applicable 81103-11-9 84029
42
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
43
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
44 Tocotrienol Investigational Not Applicable 6829-55-6
45 lysine Not Applicable
46 carnitine Not Applicable
47 ferric gluconate Not Applicable
48 Hematinics Not Applicable
49 Anti-Bacterial Agents ,Not Applicable
50 Antibiotics, Antitubercular

Interventional clinical trials:

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

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 736)
# 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
Re: Metabolic Profile and Impact of Diet in Patients with Primary Hyperoxaluria. ( 30634332 )
2019
4
Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I. ( 30635080 )
2019
5
Systemic Alanine Glyoxylate Aminotransferase Messenger RNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1. ( 30676254 )
2019
6
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation. ( 30787879 )
2019
7
Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience. ( 30475440 )
2019
8
Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria. ( 29914758 )
2018
9
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report. ( 29545831 )
2018
10
Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria. ( 29588429 )
2018
11
Metabolite diagnosis of primary hyperoxaluria type 3. ( 29705963 )
2018
12
Re: Plasma Oxalate in Relation to eGFR in Patients with Primary Hyperoxaluria, Enteric Hyperoxaluria and Urinary Stone Disease. ( 29642351 )
2018
13
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29160959 )
2018
14
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III. ( 29637271 )
2018
15
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital. ( 29456205 )
2018
16
Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report. ( 29882304 )
2018
17
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29068142 )
2018
18
Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster. ( 29980178 )
2018
19
Paraplegia as a presentation of primary hyperoxaluria. ( 29959618 )
2018
20
Liver-kidney simultaneous transplantation in adult patients with primary hyperoxaluria. Experience at Hospital Universitario 12 de Octubre. ( 29106285 )
2018
21
Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1. ( 30028141 )
2018
22
Metabolic profile and impact of diet in patients with primary hyperoxaluria. ( 30039216 )
2018
23
Targeting kidney inflammation as a new therapy for primary hyperoxaluria? ( 30169827 )
2018
24
Recurrent oxalosis in a combined liver-kidney transplant patient with primary hyperoxaluria type 1 resulting in graft failure. ( 30251314 )
2018
25
Imaging features of primary hyperoxaluria. ( 30253334 )
2018
26
Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I. ( 30276532 )
2018
27
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. ( 30341509 )
2018
28
Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria. ( 30373392 )
2018
29
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report. ( 30397603 )
2018
30
Molecular basis of primary hyperoxaluria: clues to innovative treatments. ( 30430197 )
2018
31
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones. ( 30488096 )
2018
32
Generation of a primary hyperoxaluria type 1 disease model via CRISPR/Cas9 system in rats. ( 30539697 )
2018
33
Novel therapeutic approaches in primary hyperoxaluria. ( 30540923 )
2018
34
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population. ( 30541997 )
2018
35
CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I. ( 30575740 )
2018
36
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria. ( 28651815 )
2017
37
Primary hyperoxaluria detected by bone marrow biopsy: case report. ( 28943803 )
2017
38
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals. ( 29066173 )
2017
39
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 28718073 )
2017
40
Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. ( 28764885 )
2017
41
Re: An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria. ( 29539912 )
2017
42
Re: Use of Polymer Conjugates for the Intraperoxisomal Delivery of Engineered Humanalanine:Glyoxylate Aminotransferase as a Protein Therapy for Primary Hyperoxaluria Type I. ( 29370645 )
2017
43
Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria 1. ( 28598458 )
2017
44
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2017
45
Re: A Randomised Phase I/II Trial to Evaluate the Efficacy and Safety of Orally Administered Oxalobacter formigenes to Treat Primary Hyperoxaluria. ( 28505910 )
2017
46
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations. ( 28969594 )
2017
47
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. ( 28619084 )
2017
48
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1. ( 29244539 )
2017
49
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. ( 28904440 )
2017
50
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. ( 28569194 )
2017

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.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh37 Chromosome 9, 37432134: 37432135
2 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh38 Chromosome 9, 37432137: 37432138
3 AGXT NM_000030.2(AGXT): c.654G> A (p.Ser218=) single nucleotide variant Conflicting interpretations of pathogenicity rs33958047 GRCh37 Chromosome 2, 241813453: 241813453
4 AGXT NM_000030.2(AGXT): c.654G> A (p.Ser218=) single nucleotide variant Conflicting interpretations of pathogenicity rs33958047 GRCh38 Chromosome 2, 240874036: 240874036
5 AGXT NM_000030.2(AGXT): c.35A> G (p.Lys12Arg) single nucleotide variant Uncertain significance rs142969817 GRCh37 Chromosome 2, 241808317: 241808317
6 AGXT NM_000030.2(AGXT): c.35A> G (p.Lys12Arg) single nucleotide variant Uncertain significance rs142969817 GRCh38 Chromosome 2, 240868900: 240868900
7 AGXT NM_000030.2(AGXT): c.65A> G (p.Asn22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34885252 GRCh37 Chromosome 2, 241808347: 241808347
8 AGXT NM_000030.2(AGXT): c.65A> G (p.Asn22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34885252 GRCh38 Chromosome 2, 240868930: 240868930
9 AGXT NM_000030.2(AGXT): c.264C> T (p.Ala88=) single nucleotide variant Conflicting interpretations of pathogenicity rs35698882 GRCh37 Chromosome 2, 241808685: 241808685
10 AGXT NM_000030.2(AGXT): c.264C> T (p.Ala88=) single nucleotide variant Conflicting interpretations of pathogenicity rs35698882 GRCh38 Chromosome 2, 240869268: 240869268
11 AGXT NM_000030.2(AGXT): c.358+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs34995778 GRCh38 Chromosome 2, 240869375: 240869375
12 AGXT NM_000030.2(AGXT): c.358+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs34995778 GRCh37 Chromosome 2, 241808792: 241808792
13 AGXT NM_000030.2(AGXT): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs147601535 GRCh38 Chromosome 2, 240871414: 240871414
14 AGXT NM_000030.2(AGXT): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs147601535 GRCh37 Chromosome 2, 241810831: 241810831
15 AGXT NM_000030.2(AGXT): c.705G> A (p.Thr235=) single nucleotide variant Likely benign rs35977912 GRCh37 Chromosome 2, 241814550: 241814550
16 AGXT NM_000030.2(AGXT): c.705G> A (p.Thr235=) single nucleotide variant Likely benign rs35977912 GRCh38 Chromosome 2, 240875133: 240875133
17 AGXT NM_000030.3(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh37 Chromosome 2, 241816990: 241816990
18 AGXT NM_000030.3(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh38 Chromosome 2, 240877573: 240877573
19 AGXT NM_000030.2(AGXT): c.*19G> A single nucleotide variant Uncertain significance rs143458283 GRCh37 Chromosome 2, 241818257: 241818257
20 AGXT NM_000030.2(AGXT): c.*19G> A single nucleotide variant Uncertain significance rs143458283 GRCh38 Chromosome 2, 240878840: 240878840
21 AGXT NM_000030.2(AGXT): c.*41C> A single nucleotide variant Benign rs4273214 GRCh37 Chromosome 2, 241818279: 241818279
22 AGXT NM_000030.2(AGXT): c.*41C> A single nucleotide variant Benign rs4273214 GRCh38 Chromosome 2, 240878862: 240878862
23 AGXT NM_000030.2(AGXT): c.*289A> C single nucleotide variant Benign rs4344931 GRCh37 Chromosome 2, 241818527: 241818527
24 AGXT NM_000030.2(AGXT): c.*289A> C single nucleotide variant Benign rs4344931 GRCh38 Chromosome 2, 240879110: 240879110
25 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh37 Chromosome 9, 37426524: 37426524
26 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh38 Chromosome 9, 37426527: 37426527
27 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh37 Chromosome 9, 37429729: 37429729
28 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh38 Chromosome 9, 37429732: 37429732
29 GRHPR NM_012203.1(GRHPR): c.734+9G> A single nucleotide variant Likely benign rs56401536 GRCh38 Chromosome 9, 37430655: 37430655
30 GRHPR NM_012203.1(GRHPR): c.734+9G> A single nucleotide variant Likely benign rs56401536 GRCh37 Chromosome 9, 37430652: 37430652
31 GRHPR NM_012203.1(GRHPR): c.963G> A (p.Pro321=) single nucleotide variant Uncertain significance rs76299266 GRCh37 Chromosome 9, 37436755: 37436755
32 GRHPR NM_012203.1(GRHPR): c.963G> A (p.Pro321=) single nucleotide variant Uncertain significance rs76299266 GRCh38 Chromosome 9, 37436758: 37436758
33 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810
34 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh37 Chromosome 10, 99344567: 99344567
35 HOGA1 NM_138413.3(HOGA1): c.396G> A (p.Ala132=) single nucleotide variant Likely benign rs41290456 GRCh38 Chromosome 10, 97599144: 97599144
36 HOGA1 NM_138413.3(HOGA1): c.396G> A (p.Ala132=) single nucleotide variant Likely benign rs41290456 GRCh37 Chromosome 10, 99358901: 99358901
37 HOGA1 NM_138413.3(HOGA1): c.912C> A (p.Ala304=) single nucleotide variant Benign rs12261752 GRCh38 Chromosome 10, 97611587: 97611587
38 HOGA1 NM_138413.3(HOGA1): c.912C> A (p.Ala304=) single nucleotide variant Benign rs12261752 GRCh37 Chromosome 10, 99371344: 99371344
39 GRHPR NM_012203.1(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh37 Chromosome 9, 37426542: 37426542
40 GRHPR NM_012203.1(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 GRCh38 Chromosome 9, 37426545: 37426545
41 AGXT NM_000030.2(AGXT): c.32C> T (p.Pro11Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34116584 GRCh37 Chromosome 2, 241808314: 241808314
42 AGXT NM_000030.2(AGXT): c.32C> T (p.Pro11Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34116584 GRCh38 Chromosome 2, 240868897: 240868897
43 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
44 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh38 Chromosome 2, 240875159: 240875159
45 GRHPR NM_012203.1(GRHPR): c.579A> G (p.Ala193=) single nucleotide variant Benign rs309458 GRCh37 Chromosome 9, 37429814: 37429814
46 GRHPR NM_012203.1(GRHPR): c.579A> G (p.Ala193=) single nucleotide variant Benign rs309458 GRCh38 Chromosome 9, 37429817: 37429817
47 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh37 Chromosome 2, 241810850: 241810850
48 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh38 Chromosome 2, 240871433: 240871433
49 AGXT NM_000030.2(AGXT): c.1020A> G (p.Ile340Met) single nucleotide variant Conflicting interpretations of pathogenicity rs4426527 GRCh37 Chromosome 2, 241817516: 241817516
50 AGXT NM_000030.2(AGXT): c.1020A> G (p.Ile340Met) single nucleotide variant Conflicting interpretations of pathogenicity rs4426527 GRCh38 Chromosome 2, 240878099: 240878099

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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