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MCID: PRM002
MIFTS: 53

Primary Hyperoxaluria

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Primary Hyperoxaluria

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MalaCards integrated aliases for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 12 76 25 59 37 29 6 15 73
Hyperoxaluria, Primary 76 25 44
Primary Oxalosis 25 73
Hyperoxaluria 44 73
Oxalosis 25 73
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 25
D-Glycerate Dehydrogenase Deficiency 25
Primary Hyperoxaluria, Type I 73
Primary Hyperoxaluria Type 2 73
Hepatic Agt Deficiency 25
Hyperoxaluria Primary 55
Congenital Oxaluria 25
Glycolic Aciduria 25
Glyceric Aciduria 25
Oxaluria, Primary 25
Primary Oxaluria 25

Characteristics:

Orphanet epidemiological data:

59
primary hyperoxaluria
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Nephrological diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2977
ICD10 33 E72.53
NCIt 50 C123158
SNOMED-CT 68 17901006
Orphanet 59 ORPHA416
MESH via Orphanet 45 D006959
UMLS via Orphanet 74 C0020500 C0020501
ICD10 via Orphanet 34 E74.8
KEGG 37 H00117
Sources

Summaries for Primary Hyperoxaluria

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Genetics Home Reference : 25 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 Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotype is renal/urinary system.

Wikipedia : 76 Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of... more...

Sources

Related Diseases for Primary Hyperoxaluria

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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 90)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 32.2 AGXT GRHPR
2 peroxisomal disease 29.6 AGXT PEX5
3 d-glyceric aciduria 12.8
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 11.0
10 nephrocalcinosis 10.4
11 end stage renal failure 10.3
12 renal osteodystrophy 10.2
13 west syndrome 10.2
14 steatorrhea 10.1
15 intestinal disease 10.1
16 kidney disease 10.1
17 nephrolithiasis 10.1
18 hypothyroidism 10.1
19 peripheral nervous system disease 10.1
20 neuropathy 10.1
21 peroxisomal acyl-coa oxidase deficiency 10.0 AGXT PEX5
22 pulmonary aspergilloma 10.0
23 aspergillus niger infection 10.0
24 bone disease 10.0
25 pancytopenia 10.0
26 calcinosis 10.0
27 thrombophilia 10.0
28 carbohydrate metabolic disorder 10.0 AGXT GRHPR HOGA1
29 rickets 9.9
30 ureteral obstruction 9.9
31 renal tubular acidosis, distal 9.9
32 fundus albipunctatus 9.9
33 neuroblastoma 9.9
34 3-methylglutaconic aciduria, type iii 9.9
35 arthritis 9.9
36 osteomalacia 9.9
37 short bowel syndrome 9.9
38 interstitial nephritis 9.9
39 beriberi 9.9
40 myelophthisic anemia 9.9
41 olfactory neuroblastoma 9.9
42 paget's disease of bone 9.9
43 amyloidosis 9.9
44 amyloidosis aa 9.9
45 dysphagia 9.9
46 chromosome 2q37 deletion syndrome 9.8
47 patent ductus arteriosus 1 9.8
48 hepatitis 9.8
49 liver cirrhosis 9.8
50 liver disease 9.8

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



Diseases related to Primary Hyperoxaluria
Sources

Symptoms & Phenotypes for Primary Hyperoxaluria

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UMLS symptoms related to Primary Hyperoxaluria:


bone pain

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 AGXT AGXT2 GRHPR HOGA1 PEX5
Sources

Drugs & Therapeutics for Primary Hyperoxaluria

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents Phase 2, Phase 3
2 Calcium, Dietary Phase 2, Phase 3,Phase 1
3 Protective Agents Phase 3,Not Applicable
4
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
5
Zoledronic acid Approved Phase 2 118072-93-8 68740
6
Pravastatin Approved Phase 2 81093-37-0 54687
7
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
8
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
11
Lonafarnib Investigational Phase 2 193275-84-2 148195
12 Vitamin B 6 Phase 2
13 Vitamin B Complex Phase 2
14 Micronutrients Phase 2,Not Applicable
15 Vitamin B9 Phase 2
16 Vitamins Phase 2,Not Applicable
17 Pharmaceutical Solutions Phase 2,Phase 1
18 Trace Elements Phase 2,Not Applicable
19 Folate Phase 2
20 Lipid Regulating Agents Phase 2
21 Gastrointestinal Agents Phase 2,Not Applicable
22 Hypolipidemic Agents Phase 2
23 Antimetabolites Phase 2
24 leucine Phase 1, Phase 2
25 Histone Deacetylase Inhibitors Phase 2
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
27 Diphosphonates Phase 2
28 Anticholesteremic Agents Phase 2
29
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
30 Liver Extracts Phase 1
31
Iron Approved Not Applicable 7439-89-6 23925
32
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
33
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
34
Amoxicillin Approved, Vet_approved Not Applicable 26787-78-0 33613
35
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 119141-88-7 4594 9579578
36
Metronidazole Approved Not Applicable 443-48-1 4173
37
Clarithromycin Approved Not Applicable 81103-11-9 84029
38
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
39
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
40 Tocotrienol Investigational Not Applicable 6829-55-6
41 Hematinics Not Applicable
42 ferric gluconate Not Applicable
43 carnitine Not Applicable
44 lysine Not Applicable
45 Antibiotics, Antitubercular
46 Anti-Bacterial Agents ,Not Applicable
47 Tocopherols Not Applicable
48 Tocotrienols Not Applicable
49 Antioxidants Not Applicable
50 Cytochrome P-450 Enzyme Inhibitors Not Applicable

Interventional clinical trials:

(show all 38)
# 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 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
10 Hydroxyproline Influence on Oxalate Metabolism Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
11 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2 vorinostat
12 Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Recruiting NCT03391804 Phase 2 ALLN-177
13 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Active, not recruiting NCT02000219 Phase 2
14 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Active, not recruiting NCT02706886 Phase 1, Phase 2 Lumasiran;Sterile Normal Saline (0.9% NaCl)
15 An Extension Study of an Investigational Drug, ALN-GO1, in Patients With Primary Hyperoxaluria Type 1 Enrolling by invitation NCT03350451 Phase 2 ALN-GO1
16 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
17 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
18 Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria Recruiting NCT03392896 Phase 1 DCR-PHXC;Placebo
19 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1 C-13 labeled oxalate
20 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PH1
21 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
22 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 Not Applicable L-Canitine
23 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
24 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225
25 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009 Not Applicable
26 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
27 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994 Not Applicable
28 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786 Not Applicable Quadruple therapy;Triple therapy
29 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
30 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
31 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Recruiting NCT02794649
32 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
33 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
34 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
35 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
36 Proteomics of Primary Hyperoxaluria Type 1 Active, not recruiting NCT03067142
37 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
38 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Primary Hyperoxaluria

Cochrane evidence based reviews: hyperoxaluria, primary

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Genetic Tests for Primary Hyperoxaluria

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Genetic tests related to Primary Hyperoxaluria:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria 29
Sources

Anatomical Context for Primary Hyperoxaluria

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MalaCards organs/tissues related to Primary Hyperoxaluria:

41
Kidney, Liver, Bone, Bone Marrow, Testes, Eye, Spinal Cord
Sources

Publications for Primary Hyperoxaluria

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Articles related to Primary Hyperoxaluria:

(show top 50) (show all 730)
# Title Authors Year
1
Nephrogenic systemic fibrosis: in a child with primary hyperoxaluria. ( 30198190 )
2019
2
Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria. ( 29914758 )
2018
3
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report. ( 29545831 )
2018
4
Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria. ( 29588429 )
2018
5
Metabolite diagnosis of primary hyperoxaluria type 3. ( 29705963 )
2018
6
Re: Plasma Oxalate in Relation to eGFR in Patients with Primary Hyperoxaluria, Enteric Hyperoxaluria and Urinary Stone Disease. ( 29642351 )
2018
7
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29160959 )
2018
8
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III. ( 29637271 )
2018
9
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital. ( 29456205 )
2018
10
Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report. ( 29882304 )
2018
11
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29068142 )
2018
12
Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster. ( 29980178 )
2018
13
Paraplegia as a presentation of primary hyperoxaluria. ( 29959618 )
2018
14
Generation of a primary hyperoxaluria type 1 disease model via CRISPR/Cas9 system in rats. ( 30539697 )
2018
15
Novel therapeutic approaches in primary hyperoxaluria. ( 30540923 )
2018
16
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population. ( 30541997 )
2018
17
Liver-kidney simultaneous transplantation in adult patients with primary hyperoxaluria. Experience at Hospital Universitario 12 de Octubre. ( 29106285 )
2018
18
Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1. ( 30028141 )
2018
19
Metabolic profile and impact of diet in patients with primary hyperoxaluria. ( 30039216 )
2018
20
Targeting kidney inflammation as a new therapy for primary hyperoxaluria? ( 30169827 )
2018
21
Recurrent oxalosis in a combined liver-kidney transplant patient with primary hyperoxaluria type 1 resulting in graft failure. ( 30251314 )
2018
22
Imaging features of primary hyperoxaluria. ( 30253334 )
2018
23
Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I. ( 30276532 )
2018
24
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. ( 30341509 )
2018
25
Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria. ( 30373392 )
2018
26
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report. ( 30397603 )
2018
27
Molecular basis of primary hyperoxaluria: clues to innovative treatments. ( 30430197 )
2018
28
Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience. ( 30475440 )
2018
29
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones. ( 30488096 )
2018
30
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria. ( 28651815 )
2017
31
Primary hyperoxaluria detected by bone marrow biopsy: case report. ( 28943803 )
2017
32
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals. ( 29066173 )
2017
33
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 28718073 )
2017
34
Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. ( 28764885 )
2017
35
Re: An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria. ( 29539912 )
2017
36
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
37
Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria 1. ( 28598458 )
2017
38
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2017
39
Re: A Randomised Phase I/II Trial to Evaluate the Efficacy and Safety of Orally Administered Oxalobacter formigenes to Treat Primary Hyperoxaluria. ( 28505910 )
2017
40
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations. ( 28969594 )
2017
41
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. ( 28619084 )
2017
42
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1. ( 29244539 )
2017
43
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. ( 28904440 )
2017
44
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. ( 28569194 )
2017
45
Central nervous system involvement in primary hyperoxaluria demonstrated by brain ultrasonography. ( 28728813 )
2017
46
Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria. ( 28553045 )
2017
47
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. ( 28660284 )
2017
48
Opposite effect of polymorphic mutations on the electrostatic aggregation of human alanine:glyoxylate aminotransferase: implications for the pathogenesis of Primary Hyperoxaluria Type I. ( 28906061 )
2017
49
Combined liver and kidney transplantation in two women with primary hyperoxaluria: Different roads led to different outcomes. ( 28209444 )
2017
50
Folding Defects Leading to Primary Hyperoxaluria. ( 29071511 )
2017
Sources

Variations for Primary Hyperoxaluria

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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_000030.2(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh37 Chromosome 2, 241816990: 241816990
34 AGXT NM_000030.2(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
Sources

Expression for Primary Hyperoxaluria

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Search GEO for disease gene expression data for Primary Hyperoxaluria.
Sources

Pathways for Primary Hyperoxaluria

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Pathways related to Primary Hyperoxaluria according to KEGG:

37
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Glyoxylate and dicarboxylate metabolism hsa00630

Pathways related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.61 AGXT AGXT2 GPI GRHPR GSR HAO1
2
Viral mRNA Translation 66
Show member pathways
 13.34 AGXT AGXT2 GRHPR GSR HAO1 PRODH
3
Carbon metabolism 37
Show member pathways
 11.9 AGXT GPI HAO1
4
Peroxisome 37
11.46 AGXT HAO1 PEX5
5
Arginine and proline metabolism 37
Show member pathways
 11.19 HOGA1 PRODH PRODH2
6
Glycine, serine and threonine metabolism 37
Show member pathways
 11.05 AGXT AGXT2 GRHPR
7
Alanine, aspartate and glutamate metabolism 37
10.98 AGXT AGXT2
8
Glyoxylate metabolism and glycine degradation 66
Show member pathways
 10.87 AGXT AGXT2 GRHPR HAO1
9
Glyoxylate and dicarboxylate metabolism 37
10.4 AGXT GRHPR HAO1 HOGA1
Sources

GO Terms for Primary Hyperoxaluria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 AGXT AGXT2 GSR HOGA1 PEX5 PRODH
2 peroxisome GO:0005777 9.43 AGXT HAO1 PEX5
3 peroxisomal matrix GO:0005782 9.33 AGXT GRHPR HAO1
4 mitochondrial matrix GO:0005759 9.02 AGXT AGXT2 GSR HOGA1 PRODH

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 GRHPR GSR HAO1 PRODH PRODH2
2 protein targeting to peroxisome GO:0006625 9.63 AGXT HAO1 PEX5
3 pyruvate biosynthetic process GO:0042866 9.48 AGXT HOGA1
4 4-hydroxyproline catabolic process GO:0019470 9.43 HOGA1 PRODH
5 proline catabolic process GO:0006562 9.4 PRODH PRODH2
6 proline catabolic process to glutamate GO:0010133 9.37 PRODH PRODH2
7 cellular nitrogen compound metabolic process GO:0034641 9.33 AGXT GRHPR HAO1
8 proline metabolic process GO:0006560 9.32 PRODH PRODH2
9 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.26 AGXT AGXT2
10 glyoxylate catabolic process GO:0009436 9.13 AGXT AGXT2 HOGA1
11 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 9.55 GRHPR GSR HAO1 PRODH PRODH2
2 pyridoxal phosphate binding GO:0030170 9.4 AGXT AGXT2
3 NADP binding GO:0050661 9.37 GRHPR GSR
4 FAD binding GO:0071949 9.32 PRODH PRODH2
5 transaminase activity GO:0008483 9.26 AGXT AGXT2
6 alanine-glyoxylate transaminase activity GO:0008453 8.96 AGXT AGXT2
7 proline dehydrogenase activity GO:0004657 8.62 PRODH PRODH2
Sources

Sources for Primary Hyperoxaluria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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