MCID: PRM002
MIFTS: 53

Primary Hyperoxaluria

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

Aliases & Classifications for Primary Hyperoxaluria

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:



External Ids:

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

Summaries for Primary Hyperoxaluria

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 nephrocalcinosis, 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...

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 all 46)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 32.4 AGXT GRHPR
2 nephrocalcinosis 30.6 AGXT GRHPR
3 nephrolithiasis 29.4 AGXT GRHPR
4 d-glyceric aciduria 12.7
5 hyperoxaluria, primary, type ii 12.2
6 hyperoxaluria, primary, type i 12.1
7 hyperoxaluria, primary, type iii 11.7
8 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
9 hydroxycarboxylic aciduria 11.0
10 type i 10.7
11 hepatitis 10.3
12 peroxisomal acyl-coa oxidase deficiency 10.3 AGXT PEX5
13 peroxisomal disease 10.2 AGXT PEX5
14 end stage renal failure 10.1
15 carbohydrate metabolic disorder 10.0 AGXT GRHPR HOGA1
16 retinitis 10.0
17 kidney disease 10.0
18 peritonitis 10.0
19 hypothyroidism 9.9
20 bone disease 9.9
21 pancytopenia 9.9
22 fundus albipunctatus 9.8
23 3-methylglutaconic aciduria, type iii 9.8
24 chromosome 2q37 deletion syndrome 9.7
25 patent ductus arteriosus 1 9.7
26 liver cirrhosis 9.7
27 liver disease 9.7
28 renal tubular acidosis 9.7
29 brachydactyly 9.7
30 autosomal recessive disease 9.7
31 thrombosis 9.7
32 choroiditis 9.7
33 calcinosis 9.7
34 thrombophilia 9.7
35 cerebritis 9.7
36 arthropathy 9.7
37 restrictive cardiomyopathy 9.7
38 polyradiculoneuropathy 9.7
39 calciphylaxis 9.7
40 peripheral nervous system disease 9.7
41 adenosine deaminase deficiency 9.7
42 paraplegia 9.7
43 vasculitis 9.7
44 neuropathy 9.7
45 autosomal dominant polycystic kidney disease 9.7
46 polycystic kidney disease 9.7

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

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

Drugs & Therapeutics for Primary Hyperoxaluria

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

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

Interventional clinical trials:

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

Anatomical Context for Primary Hyperoxaluria

MalaCards organs/tissues related to Primary Hyperoxaluria:

41
Kidney, Liver, Bone, Testes, Bone Marrow, Skin, Fetal Liver

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 641)
# Title Authors Year
1
Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria. ( 29914758 )
2018
2
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report. ( 29545831 )
2018
3
Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria. ( 29588429 )
2018
4
Metabolite diagnosis of primary hyperoxaluria type 3. ( 29705963 )
2018
5
Re: Plasma Oxalate in Relation to eGFR in Patients with Primary Hyperoxaluria, Enteric Hyperoxaluria and Urinary Stone Disease. ( 29642351 )
2018
6
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29160959 )
2018
7
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III. ( 29637271 )
2018
8
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital. ( 29456205 )
2018
9
Primary hyperoxaluria: Orthodontic management in a pediatric patient: A case report. ( 29882304 )
2018
10
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29068142 )
2018
11
Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster. ( 29980178 )
2018
12
Paraplegia as a presentation of primary hyperoxaluria. ( 29959618 )
2018
13
Liver-kidney simultaneous transplantation in adult patients with primary hyperoxaluria. Experience at Hospital Universitario 12 de Octubre. ( 29106285 )
2018
14
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria. ( 28651815 )
2017
15
Primary hyperoxaluria detected by bone marrow biopsy: case report. ( 28943803 )
2017
16
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals. ( 29066173 )
2017
17
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 28718073 )
2017
18
Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. ( 28764885 )
2017
19
Re: An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria. ( 29539912 )
2017
20
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
21
Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria 1. ( 28598458 )
2017
22
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2017
23
Re: A Randomised Phase I/II Trial to Evaluate the Efficacy and Safety of Orally Administered Oxalobacter formigenes to Treat Primary Hyperoxaluria. ( 28505910 )
2017
24
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations. ( 28969594 )
2017
25
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. ( 28619084 )
2017
26
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1. ( 29244539 )
2017
27
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. ( 28904440 )
2017
28
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. ( 28569194 )
2017
29
Central nervous system involvement in primary hyperoxaluria demonstrated by brain ultrasonography. ( 28728813 )
2017
30
Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria. ( 28553045 )
2017
31
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. ( 28660284 )
2017
32
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
33
Combined liver and kidney transplantation in two women with primary hyperoxaluria: Different roads led to different outcomes. ( 28209444 )
2017
34
Folding Defects Leading to Primary Hyperoxaluria. ( 29071511 )
2017
35
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 B<sub>6</sub>. ( 29110180 )
2017
36
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. ( 27935012 )
2017
37
Primary Hyperoxaluria. ( 28402768 )
2017
38
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. ( 28711958 )
2017
39
Molecular therapy of primary hyperoxaluria. ( 28425073 )
2017
40
Bilateral native nephrectomy to reduce oxalate stores in children at the time of combined liver-kidney transplantation for primary hyperoxaluria type 1. ( 29243158 )
2017
41
ENDOCRINE MANIFESTATIONS OF PRIMARY HYPEROXALURIA. ( 29144803 )
2017
42
Late diagnosis of primary hyperoxaluria type III. ( 27742850 )
2017
43
Clinical spectrum of primary hyperoxaluria typeA 1: Experience of a tertiary center. ( 28161266 )
2017
44
Primary hyperoxaluria: spectrum of clinical and imaging findings. ( 27844104 )
2017
45
Type 1 primary hyperoxaluria: A case report and focus on bone impairment of systemic oxalosis. ( 29102553 )
2017
46
Type 1 primary hyperoxaluria in a male infant. ( 29285432 )
2017
47
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. ( 26946417 )
2016
48
Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease. ( 27512303 )
2016
49
siRNA Therapeutics for Primary Hyperoxaluria: A Beginning. ( 27081720 )
2016
50
Bilateral nephrocalcinosis in primary hyperoxaluria type 1. ( 27795638 )
2016

Variations for Primary Hyperoxaluria

ClinVar genetic disease variations for Primary Hyperoxaluria:

6
(show top 50) (show all 182)
# 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.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
4 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh38 Chromosome 2, 240875159: 240875159
5 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh37 Chromosome 2, 241810850: 241810850
6 AGXT NM_000030.2(AGXT): c.508G> A (p.Gly170Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908529 GRCh38 Chromosome 2, 240871433: 240871433
7 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh37 Chromosome 9, 37432134: 37432135
8 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 GRCh38 Chromosome 9, 37432137: 37432138
9 AGXT NM_000030.2(AGXT): c.654G> A (p.Ser218=) single nucleotide variant Conflicting interpretations of pathogenicity rs33958047 GRCh37 Chromosome 2, 241813453: 241813453
10 AGXT NM_000030.2(AGXT): c.654G> A (p.Ser218=) single nucleotide variant Conflicting interpretations of pathogenicity rs33958047 GRCh38 Chromosome 2, 240874036: 240874036
11 AGXT NM_000030.2(AGXT): c.35A> G (p.Lys12Arg) single nucleotide variant Uncertain significance rs142969817 GRCh37 Chromosome 2, 241808317: 241808317
12 AGXT NM_000030.2(AGXT): c.35A> G (p.Lys12Arg) single nucleotide variant Uncertain significance rs142969817 GRCh38 Chromosome 2, 240868900: 240868900
13 AGXT NM_000030.2(AGXT): c.65A> G (p.Asn22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34885252 GRCh37 Chromosome 2, 241808347: 241808347
14 AGXT NM_000030.2(AGXT): c.65A> G (p.Asn22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34885252 GRCh38 Chromosome 2, 240868930: 240868930
15 AGXT NM_000030.2(AGXT): c.264C> T (p.Ala88=) single nucleotide variant Likely benign rs35698882 GRCh37 Chromosome 2, 241808685: 241808685
16 AGXT NM_000030.2(AGXT): c.264C> T (p.Ala88=) single nucleotide variant Likely benign rs35698882 GRCh38 Chromosome 2, 240869268: 240869268
17 AGXT NM_000030.2(AGXT): c.358+13C> T single nucleotide variant Likely benign rs34995778 GRCh38 Chromosome 2, 240869375: 240869375
18 AGXT NM_000030.2(AGXT): c.358+13C> T single nucleotide variant Likely benign rs34995778 GRCh37 Chromosome 2, 241808792: 241808792
19 AGXT NM_000030.2(AGXT): c.489G> A (p.Leu163=) single nucleotide variant Uncertain significance rs147601535 GRCh38 Chromosome 2, 240871414: 240871414
20 AGXT NM_000030.2(AGXT): c.489G> A (p.Leu163=) single nucleotide variant Uncertain significance rs147601535 GRCh37 Chromosome 2, 241810831: 241810831
21 AGXT NM_000030.2(AGXT): c.705G> A (p.Thr235=) single nucleotide variant Likely benign rs35977912 GRCh37 Chromosome 2, 241814550: 241814550
22 AGXT NM_000030.2(AGXT): c.705G> A (p.Thr235=) single nucleotide variant Likely benign rs35977912 GRCh38 Chromosome 2, 240875133: 240875133
23 AGXT NM_000030.2(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh37 Chromosome 2, 241816990: 241816990
24 AGXT NM_000030.2(AGXT): c.883G> A (p.Ala295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs13408961 GRCh38 Chromosome 2, 240877573: 240877573
25 AGXT NM_000030.2(AGXT): c.*19G> A single nucleotide variant Uncertain significance rs143458283 GRCh37 Chromosome 2, 241818257: 241818257
26 AGXT NM_000030.2(AGXT): c.*19G> A single nucleotide variant Uncertain significance rs143458283 GRCh38 Chromosome 2, 240878840: 240878840
27 AGXT NM_000030.2(AGXT): c.*41C> A single nucleotide variant Benign rs4273214 GRCh37 Chromosome 2, 241818279: 241818279
28 AGXT NM_000030.2(AGXT): c.*41C> A single nucleotide variant Benign rs4273214 GRCh38 Chromosome 2, 240878862: 240878862
29 AGXT NM_000030.2(AGXT): c.*289A> C single nucleotide variant Benign rs4344931 GRCh37 Chromosome 2, 241818527: 241818527
30 AGXT NM_000030.2(AGXT): c.*289A> C single nucleotide variant Benign rs4344931 GRCh38 Chromosome 2, 240879110: 240879110
31 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh37 Chromosome 9, 37426524: 37426524
32 GRHPR NM_012203.1(GRHPR): c.288-11C> T single nucleotide variant Benign rs2736664 GRCh38 Chromosome 9, 37426527: 37426527
33 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh37 Chromosome 9, 37429729: 37429729
34 GRHPR NM_012203.1(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic rs180177314 GRCh38 Chromosome 9, 37429732: 37429732
35 GRHPR NM_012203.1(GRHPR): c.734+9G> A single nucleotide variant Likely benign rs56401536 GRCh38 Chromosome 9, 37430655: 37430655
36 GRHPR NM_012203.1(GRHPR): c.734+9G> A single nucleotide variant Likely benign rs56401536 GRCh37 Chromosome 9, 37430652: 37430652
37 GRHPR NM_012203.1(GRHPR): c.963G> A (p.Pro321=) single nucleotide variant Uncertain significance rs76299266 GRCh37 Chromosome 9, 37436755: 37436755
38 GRHPR NM_012203.1(GRHPR): c.963G> A (p.Pro321=) single nucleotide variant Uncertain significance rs76299266 GRCh38 Chromosome 9, 37436758: 37436758
39 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810
40 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Likely pathogenic rs201803986 GRCh37 Chromosome 10, 99344567: 99344567
41 HOGA1 NM_138413.3(HOGA1): c.396G> A (p.Ala132=) single nucleotide variant Likely benign rs41290456 GRCh38 Chromosome 10, 97599144: 97599144
42 HOGA1 NM_138413.3(HOGA1): c.396G> A (p.Ala132=) single nucleotide variant Likely benign rs41290456 GRCh37 Chromosome 10, 99358901: 99358901
43 HOGA1 NM_138413.3(HOGA1): c.912C> A (p.Ala304=) single nucleotide variant Benign rs12261752 GRCh38 Chromosome 10, 97611587: 97611587
44 HOGA1 NM_138413.3(HOGA1): c.912C> A (p.Ala304=) single nucleotide variant Benign rs12261752 GRCh37 Chromosome 10, 99371344: 99371344
45 AGXT NM_000030.2(AGXT): c.732C> A (p.Ile244=) single nucleotide variant Likely benign rs147106773 GRCh37 Chromosome 2, 241814577: 241814577
46 AGXT NM_000030.2(AGXT): c.732C> A (p.Ile244=) single nucleotide variant Likely benign rs147106773 GRCh38 Chromosome 2, 240875160: 240875160
47 GRHPR NM_012203.1(GRHPR): c.493+9C> T single nucleotide variant Uncertain significance rs41303225 GRCh38 Chromosome 9, 37428581: 37428581
48 GRHPR NM_012203.1(GRHPR): c.493+9C> T single nucleotide variant Uncertain significance rs41303225 GRCh37 Chromosome 9, 37428578: 37428578
49 AGXT NM_000030.2(AGXT): c.930C> T (p.Phe310=) single nucleotide variant Uncertain significance rs886055842 GRCh38 Chromosome 2, 240877620: 240877620
50 AGXT NM_000030.2(AGXT): c.601G> A (p.Asp201Asn) single nucleotide variant Uncertain significance rs886055840 GRCh38 Chromosome 2, 240873983: 240873983

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:

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
Show member pathways
13.61 AGXT AGXT2 GPI GRHPR GSR HAO1
2
Show member pathways
13.34 AGXT AGXT2 GRHPR GSR HAO1 PRODH
3
Show member pathways
11.9 AGXT GPI HAO1
4 11.46 AGXT HAO1 PEX5
5
Show member pathways
11.19 HOGA1 PRODH PRODH2
6
Show member pathways
11.05 AGXT AGXT2 GRHPR
7 10.98 AGXT AGXT2
8
Show member pathways
10.87 AGXT AGXT2 GRHPR HAO1
9 10.37 AGXT GRHPR HAO1 HOGA1

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 mitochondrion GO:0005739 9.7 AGXT AGXT2 GSR HOGA1 PEX5 PRODH
2 peroxisome GO:0005777 9.43 AGXT HAO1 PEX5
3 peroxisomal matrix GO:0005782 9.13 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:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 GRHPR GSR HAO1 PRODH PRODH2
2 pyruvate biosynthetic process GO:0042866 9.46 AGXT HOGA1
3 proline catabolic process GO:0006562 9.43 PRODH PRODH2
4 4-hydroxyproline catabolic process GO:0019470 9.4 HOGA1 PRODH
5 proline metabolic process GO:0006560 9.37 PRODH PRODH2
6 cellular nitrogen compound metabolic process GO:0034641 9.33 AGXT GRHPR HAO1
7 proline catabolic process to glutamate GO:0010133 9.32 PRODH PRODH2
8 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.26 AGXT AGXT2
9 glyoxylate catabolic process GO:0009436 9.13 AGXT AGXT2 HOGA1
10 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 for Primary Hyperoxaluria

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
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