MCID: PRM002
MIFTS: 51

Primary Hyperoxaluria malady

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

Aliases & Classifications for Primary Hyperoxaluria

Aliases & Descriptions for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 12 24 25 56 14 69
Hyperoxaluria, Primary 71 24 25 29 42
Primary Oxalosis 25 69
Hyperoxaluria 42 69
Oxalosis 25 69
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 25
D-Glycerate Dehydrogenase Deficiency 25
Primary Hyperoxaluria, Type I 69
Primary Hyperoxaluria Type 2 69
Hepatic Agt Deficiency 25
Hyperoxaluria Primary 52
Congenital Oxaluria 25
Glycolic Aciduria 25
Glyceric Aciduria 25
Oxaluria, Primary 25
Primary Oxaluria 25

Characteristics:

Orphanet epidemiological data:

56
primary hyperoxaluria
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:2977
ICD10 33 E72.53
NCIt 47 C123158
Orphanet 56 ORPHA416
MESH via Orphanet 43 D006959
UMLS via Orphanet 70 C0020500
ICD10 via Orphanet 34 E74.8

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 d-glyceric aciduria and hyperoxaluria, primary, type 1, and has symptoms including bone pain An important gene associated with Primary Hyperoxaluria is HOGA1 (4-Hydroxy-2-Oxoglutarate Aldolase 1), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drugs Protective Agents and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotype is renal/urinary system.

Wikipedia : 71 Primary hyperoxaluria is a rare, inherited condition, resulting in increased excretion of oxalate, with... more...

Related Diseases for Primary Hyperoxaluria

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type 1 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 41)
id Related Disease Score Top Affiliating Genes
1 d-glyceric aciduria 12.5
2 hyperoxaluria, primary, type 1 11.8
3 hyperoxaluria, primary, type ii 11.8
4 hyperoxaluria, primary, type iii 11.2
5 nephrolithiasis 11.2
6 hydroxycarboxylic aciduria 11.0
7 d-glycericacidemia 10.9
8 hepatitis 10.2
9 nephrocalcinosis 10.2
10 newborn respiratory distress syndrome 10.1 AGXT GRHPR
11 end stage renal failure 10.1
12 mental retardation, autosomal recessive 44 10.0 AGXT PEX5
13 phacomatosis pigmentovascularis 10.0 AGXT PEX5
14 mixed receptive-expressive language disorder 10.0 AGXT GRHPR
15 kidney disease 9.9
16 peritonitis 9.9
17 cardiomyopathy 9.9
18 hypothyroidism 9.9
19 retinitis 9.9
20 pancytopenia 9.8
21 paget's disease of bone 9.7
22 calciphylaxis 9.6
23 renal tubular acidosis 9.6
24 brachydactyly 9.6
25 autosomal recessive disease 9.6
26 adenosine deaminase deficiency 9.6
27 thrombosis 9.6
28 choroiditis 9.6
29 vasculitis 9.6
30 neuropathy 9.6
31 autosomal dominant polycystic kidney disease 9.6
32 patent ductus arteriosus 9.6
33 polycystic kidney disease 9.6
34 calcinosis 9.6
35 thrombophilia 9.6
36 arthropathy 9.6
37 liver cirrhosis 9.6
38 restrictive cardiomyopathy 9.6
39 liver disease 9.6
40 polyradiculoneuropathy 9.6
41 perinephritis 8.8 AGXT AGXT2 GRHPR HAO1 HOGA1 HSPA8

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:

44
id 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 80)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protective Agents Phase 3
2 Bone Density Conservation Agents Phase 2, Phase 3
3 Calcium, Dietary Phase 2, Phase 3,Phase 1
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
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
8
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
9
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 Gastrointestinal Agents Phase 2
12 Histone Deacetylase Inhibitors Phase 2
13 Trace Elements Phase 2
14 Vitamin B 6 Phase 2
15 Vitamin B Complex Phase 2
16 Pharmaceutical Solutions Phase 2
17 Vitamins Phase 2
18 Hypolipidemic Agents Phase 2
19 Lipid Regulating Agents Phase 2
20 Antimetabolites Phase 2
21 Micronutrients Phase 2
22 Diphosphonates Phase 2
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
24 Anticholesteremic Agents Phase 2
25 Folate Nutraceutical Phase 2
26 Acidophilus Nutraceutical Phase 1, Phase 2
27
Pyridoxal Phosphate Nutraceutical Phase 2 54-47-7 1051
28 Vitamin B9 Nutraceutical Phase 2
29 Brewer's Yeast Nutraceutical Phase 1, Phase 2
30 leucine Nutraceutical Phase 1, Phase 2
31 Liver Extracts Phase 1
32
Iron Approved 7439-89-6 23925
33
Tetracycline Approved, Vet_approved 60-54-8 5353990
34
Clarithromycin Approved 81103-11-9 84029
35
Amoxicillin Approved, Vet_approved 26787-78-0 33613 2171
36
Metronidazole Approved 443-48-1 4173
37
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 4594 9579578
38
Benzocaine Approved 1994-09-7, 94-09-7 2337
39
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
40 tannic acid Approved, Nutraceutical
41
Cholecalciferol Approved, Nutraceutical 67-97-0 6221 10883523 5280795
42
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
43 ferric gluconate
44 Hematinics
45
Bismuth 7440-69-9 16682734 105143
46
Proton pump inhibitors
47 Cytochrome P-450 CYP3A Inhibitors
48 Cytochrome P-450 Enzyme Inhibitors
49 Tocopherols
50 Tocotrienols

Interventional clinical trials:

(show all 48)
id Name Status NCT ID Phase
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
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3
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 Not yet recruiting NCT03116685 Phase 3
5 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3
6 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2
7 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2
8 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2
9 Oxazyme in Patients With Hyperoxaluria Completed NCT01127087 Phase 1, Phase 2
10 Evaluating ALLN-177 for Reducing Urinary Oxalate Excretion in Calcium Oxalate Kidney Stone Formers With Hyperoxaluria Completed NCT02289755 Phase 2
11 Evaluate the Effect of ALLN-177 in Reducing Urinary Oxalate in Patients With Secondary Hyperoxaluria and Kidney Stones Over 28 Days Completed NCT02547805 Phase 2
12 Evaluate the Effect of ALLN-177 in Reducing Urinary Oxalate in Patients With Hyperoxaluria and Kidney Stones Completed NCT02503345 Phase 2
13 Use of Oral Probiotics to Reduce Urinary Oxalate Excretion Completed NCT00587041 Phase 1, Phase 2
14 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2
15 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Recruiting NCT02000219 Phase 2
16 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Recruiting NCT02706886 Phase 1, Phase 2
17 Hydroxyproline Influence on Oxalate Metabolism Active, not recruiting NCT02038543 Phase 1, Phase 2
18 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2
19 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2
20 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225 Phase 1
21 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Active, not recruiting NCT02795325 Phase 1
22 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1
23 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
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
26 A Pilot Study of Oxalate Absorption in Secondary Hyperoxaluria Completed NCT03095885
27 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
28 Comparison of DASH With Oxalate Restricted Diet on Urine in Recurrent Stone Formers With Hyperoxaluria Completed NCT01650935
29 Effect of Over-the-counter Dietary Supplements on Kidney Stone Risk Completed NCT02404701
30 Proteomic Study of Urinary Stone Disease Completed NCT00199459
31 Oral Antibiotic Treatment of Helicobacter Pylori Reduces Intestinal Colonization Rates With Oxalobacter Formigenes Completed NCT01300039
32 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
33 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994
34 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786
35 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
36 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
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 Dent Disease Mutation Genotyping Recruiting NCT01783795
41 Haptoglobin and Diabetes Complications in Pregnancy Recruiting NCT01758016
42 Proteomics of Primary Hyperoxaluria Type 1 Active, not recruiting NCT03067142
43 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
44 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Not yet recruiting NCT02794649
45 Etiological Diagnosis of Urinary Stone in Chinese Children Not yet recruiting NCT02949323
46 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305
47 Effect of Vitamin D Replacement in Patients With Urolithiasis Terminated NCT01349764
48 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:

id Genetic test Affiliating Genes
1 Primary Hyperoxaluria 29
2 Hyperoxaluria, Primary 24 HOGA1

Anatomical Context for Primary Hyperoxaluria

MalaCards organs/tissues related to Primary Hyperoxaluria:

39
Kidney, Liver, Bone, Testes, Eye, Bone Marrow, Fetal Liver

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 595)
id Title Authors Year
1
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. ( 27935012 )
2017
2
Late diagnosis of primary hyperoxaluria type III. ( 27742850 )
2017
3
Primary hyperoxaluria: spectrum of clinical and imaging findings. ( 27844104 )
2017
4
Complexity of pre-emptive liver transplantation in children with primary hyperoxaluria type 1. ( 27292943 )
2016
5
DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE. ( 27135212 )
2016
6
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1. ( 26609667 )
2016
7
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. ( 27561601 )
2016
8
Natural and unnatural compounds rescue folding defects of human alanine:glyoxylate aminotransferase leading to Primary Hyperoxaluria Type I. ( 26931357 )
2016
9
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. ( 27659337 )
2016
10
An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1. ( 27061278 )
2016
11
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
12
Urine oxalate biological variation in patients with primary hyperoxaluria. ( 26857252 )
2016
13
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure. ( 27568336 )
2016
14
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I. ( 27993722 )
2016
15
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1. ( 26758691 )
2016
16
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country. ( 27424700 )
2016
17
Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1. ( 26693850 )
2016
18
Calcium oxalate crystalluria points to primary hyperoxaluria type 1. ( 26759051 )
2016
19
Re: Pyridoxamine and Pyridoxal are More Effective than Pyridoxine in Rescuing Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I. ( 27302825 )
2016
20
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. ( 27096395 )
2016
21
High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1. ( 27670739 )
2016
22
A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 27924398 )
2016
23
Re: Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting prior to Kidney Failure. ( 27321516 )
2016
24
Primary hyperoxaluria in infants. ( 27215245 )
2016
25
Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria. ( 27161247 )
2016
26
Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase. ( 26655602 )
2016
27
siRNA Therapeutics for Primary Hyperoxaluria: A Beginning. ( 27081720 )
2016
28
Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation. ( 27345794 )
2016
29
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. ( 26946417 )
2016
30
An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria. ( 27432743 )
2016
31
Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure. ( 26656319 )
2016
32
Primary hyperoxaluria type I importance of pre-transplant genetic screening. ( 27900983 )
2016
33
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones. ( 27644547 )
2016
34
Re: Surgical Management of Stone Disease in Patients with Primary Hyperoxaluria. ( 26699967 )
2016
35
Bilateral nephrocalcinosis in primary hyperoxaluria type 1. ( 27795638 )
2016
36
Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed. ( 27215260 )
2016
37
Re: Glycolate Oxidase is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. ( 27321540 )
2016
38
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. ( 26689264 )
2016
39
Primary Hyperoxaluria Diagnosed Based on Bone Marrow Biopsy in Pancytopenic Adult with End Stage Renal Disease. ( 26634160 )
2015
40
Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus. ( 25906003 )
2015
41
Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview. ( 25620715 )
2015
42
Liver and kidney transplant in primary hyperoxaluria: a single center experience. ( 25894144 )
2015
43
Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. ( 26090995 )
2015
44
Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria. ( 26380104 )
2015
45
Re: Development of a Phenotypic High-Content Assay to Identify Pharmacoperone Drugs for the Treatment of Primary Hyperoxaluria Type 1 by High-Throughput Screening. ( 26382786 )
2015
46
Anesthesia Management of a Deceased Cadaveric-Donor Combined Liver and Kidney Transplant for Primary Hyperoxaluria Type 1: Report of a Case. ( 26640925 )
2015
47
Primary hyperoxaluria complicated with liver cirrhosis: A case report. ( 25594663 )
2015
48
Primary hyperoxaluria type 1 in 18 children: genotyping and outcome. ( 25918646 )
2015
49
Retinal Flecks in Primary Hyperoxaluria. ( 26448433 )
2015
50
Bone impairment in primary hyperoxaluria: a review. ( 25631241 )
2015

Variations for Primary Hyperoxaluria

ClinVar genetic disease variations for Primary Hyperoxaluria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Pathogenic/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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 AGXT AGXT2 GRHPR HAO1 HOGA1 PRODH
2
Show member pathways
13.21 AGXT AGXT2 GRHPR HAO1 PRODH
3 11.35 AGXT HAO1 PEX5
4
Show member pathways
11.12 HOGA1 PRODH
5
Show member pathways
11.05 AGXT AGXT2 GRHPR
6 10.87 AGXT AGXT2
7
Show member pathways
10.87 AGXT AGXT2 GRHPR HAO1
8 10.37 AGXT GRHPR HAO1 HOGA1

GO Terms for Primary Hyperoxaluria

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 AGXT AGXT2 HOGA1 PEX5 PRODH
2 peroxisome GO:0005777 9.33 AGXT HAO1 PEX5
3 mitochondrial matrix GO:0005759 9.26 AGXT AGXT2 HOGA1 PRODH
4 peroxisomal matrix GO:0005782 8.8 AGXT GRHPR HAO1

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

id Name GO ID Score Top Affiliating Genes
1 pyruvate biosynthetic process GO:0042866 9.37 AGXT HOGA1
2 cellular nitrogen compound metabolic process GO:0034641 9.33 AGXT GRHPR HAO1
3 4-hydroxyproline catabolic process GO:0019470 9.32 HOGA1 PRODH
4 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.26 AGXT AGXT2
5 glyoxylate catabolic process GO:0009436 9.13 AGXT AGXT2 HOGA1
6 glyoxylate metabolic process GO:0046487 9.02 AGXT AGXT2 GRHPR HAO1 HOGA1

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

id Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.16 AGXT AGXT2
2 transaminase activity GO:0008483 8.96 AGXT AGXT2
3 alanine-glyoxylate transaminase activity GO:0008453 8.62 AGXT AGXT2

Sources for Primary Hyperoxaluria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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