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MCID: PRM002
MIFTS: 65

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 73 43 58 36 29 6 15 70
Hyperoxaluria, Primary 73 43 44
Primary Oxalosis 43 70
Hyperoxaluria 44 70
Oxalosis 43 70
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 43
D-Glycerate Dehydrogenase Deficiency 43
Primary Hyperoxaluria, Type I 70
Primary Hyperoxaluria Type 2 70
Hepatic Agt Deficiency 43
Hyperoxaluria Primary 54
Congenital Oxaluria 43
Glycolic Aciduria 43
Glyceric Aciduria 43
Oxaluria, Primary 43
Primary Oxaluria 43

Characteristics:

Orphanet epidemiological data:

58
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: 33
Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2977
KEGG 36 H00117
NCIt 50 C123158
ICD10 32 E72.53 R82.992
MESH via Orphanet 45 D006959
ICD10 via Orphanet 33 E74.8
UMLS via Orphanet 71 C0020500 C0020501
Orphanet 58 ORPHA416
UMLS 70 C0020500 C0020501 C0268164 more
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Summaries for Primary Hyperoxaluria

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MedlinePlus Genetics : 43 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.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.

MalaCards based summary : Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to hyperoxaluria, primary, type i and hyperoxaluria, primary, type ii, 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 Pharmaceutical Solutions and Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related phenotypes are calcium oxalate nephrolithiasis and hyperoxaluria

Disease Ontology : 12 A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.

KEGG : 36 Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate.

Wikipedia : 73 Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of... more...

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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 294)
# Related Disease Score Top Affiliating Genes
1 hyperoxaluria, primary, type i 33.6 KDM4C H2AC18 CBX1 AGXT
2 hyperoxaluria, primary, type ii 33.6 H2AC18 GRHPR AGXT
3 hyperoxaluria, primary, type iii 33.5 HOGA1 GRHPR AGXT
4 nephrolithiasis, calcium oxalate 32.5 SPP1 GRHPR AGXT
5 urolithiasis 32.1 SPP1 HOGA1 HAO1 AGXT
6 nephrocalcinosis 32.0 SPP1 GRHPR AGXT
7 end stage renal disease 32.0 SPP1 PAX2 GRHPR AGXT
8 autosomal recessive disease 31.8 PRODH H2AC18 GSR AGXT
9 inherited metabolic disorder 31.3 PRODH KDM4C H2AC18 CBX1
10 peripheral nervous system disease 30.7 PRODH KDM4C HSP90AA1 H2AC18
11 adenine phosphoribosyltransferase deficiency 30.6 HOGA1 GRHPR AGXT
12 d-glyceric aciduria 30.4 GRHPR AGXT
13 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
14 crystal arthropathies 10.9
15 nephrolithiasis 10.8
16 kidney disease 10.7
17 xanthinuria 10.6 PRODH HOGA1 GRHPR AGXT
18 cystinuria 10.6 PRODH HOGA1 GRHPR AGXT
19 nephrolithiasis, uric acid 10.6 HOGA1 GRHPR AGXT
20 sleeping sickness 10.5 PRODH HSPA8 H2AC18 GSR
21 amino acid metabolic disorder 10.5 PRODH KDM4C H2AC18 ALDH4A1
22 parathyroid gland disease 10.5 RET PRODH KDM4C
23 urethral calculus 10.5 HOGA1 GRHPR
24 carbohydrate metabolic disorder 10.5 PRODH KDM4C HOGA1 H2AC18 GRHPR CBX1
25 demyelinating disease 10.5 SPP1 PRODH H2AC18 GSR
26 rhabdoid cancer 10.5 PRODH KDM4C H2AC18
27 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5 RET PRODH KDM4C H2AC18
28 autosomal genetic disease 10.5 RET PRODH KDM4C H2AC18
29 germ cell and embryonal cancer 10.5 PRODH KDM4C H2AC18
30 cardiovascular organ benign neoplasm 10.5 RET KDM4C H2AC18
31 hypotrichosis 1 10.5 KDM4C HSP90AA1 H2AC18
32 endocrine organ benign neoplasm 10.5 RET KDM4C H2AC18
33 retinitis pigmentosa 11 10.5 PRODH KDM4C H2AC18
34 renal cell carcinoma, nonpapillary 10.5 SPP1 RET PAX2 KDM4C HSP90AA1 H2AC18
35 chromosomal duplication syndrome 10.4 PRODH KDM4C H2AC18
36 chromosomal deletion syndrome 10.4 PRODH KDM4C H2AC18
37 eye degenerative disease 10.4 PRODH KDM4C H2AC18
38 urinary tract infection 10.4
39 disorder of glyoxylate metabolism 10.4
40 hyperprolinemia, type ii 10.4 PRODH ALDH4A1
41 bone disease 10.4
42 acute kidney failure 10.3
43 microcephaly 10.3
44 aspergillosis 10.3
45 chromosomal disease 10.3 PRODH KDM4C H2AC18
46 disease of mental health 10.3 SPP1 PRODH KDM4C HSPA8 HSP90AA1 H2AC18
47 uremia 10.2
48 glycine encephalopathy 10.2
49 pancytopenia 10.2
50 renal osteodystrophy 10.2

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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Human phenotypes related to Primary Hyperoxaluria:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 calcium oxalate nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008672
2 hyperoxaluria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003159
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
6 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
7 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
8 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
9 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
10 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
11 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
12 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
13 generalized osteosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005789
14 gangrene 58 31 frequent (33%) Frequent (79-30%) HP:0100758
15 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
16 heart block 58 31 frequent (33%) Frequent (79-30%) HP:0012722
17 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
18 raynaud phenomenon 58 31 frequent (33%) Frequent (79-30%) HP:0030880
19 intermittent claudication 58 31 frequent (33%) Frequent (79-30%) HP:0004417
20 choroidal neovascularization 58 31 frequent (33%) Frequent (79-30%) HP:0011506
21 arterial occlusion 58 31 frequent (33%) Frequent (79-30%) HP:0025324
22 rootless teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011072
23 abnormality of the dental pulp 58 31 frequent (33%) Frequent (79-30%) HP:0006479
24 elevated urine glycolate 58 31 frequent (33%) Frequent (79-30%) HP:0031981
25 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
26 hypercalciuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002150
27 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
28 cutis marmorata 58 31 very rare (1%) Very rare (<4-1%) HP:0000965
29 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001638
30 calcinosis cutis 58 31 very rare (1%) Very rare (<4-1%) HP:0025520
31 abnormality of the dentition 58 Frequent (79-30%)
32 chronic kidney disease 58 Frequent (79-30%)
33 aciduria 58 Frequent (79-30%)

UMLS symptoms related to Primary Hyperoxaluria:


bone pain

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.7 RET
2 Decreased viability GR00221-A-2 9.7 RET
3 Decreased viability GR00221-A-4 9.7 RET
4 Decreased viability GR00249-S 9.7 AGXT AGXT2 GRHPR GSR PRODH SPP1
5 Decreased viability GR00301-A 9.7 RET
6 Decreased viability GR00381-A-1 9.7 AGXT CBX1 GOT2 GRHPR PRODH PRODH2
7 Decreased viability GR00386-A-1 9.7 AGXT2 HOGA1
8 Decreased viability GR00402-S-2 9.7 CBX1 GRHPR HOGA1 HSP90AA1 PRODH2 RET

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 AGXT AGXT2 DAO GOT2 GRHPR HOGA1
2 renal/urinary system MP:0005367 9.28 AGXT AGXT2 GRHPR HOGA1 PAX2 PEX5
Sources

Drugs & Therapeutics for Primary Hyperoxaluria

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Stiripentol Approved Phase 2 49763-96-4
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
4
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
5
Betaine Approved, Nutraceutical Phase 2 107-43-7, 6915-17-9 248
6 Vitamin B 6 Phase 2
7 Calcium, Dietary Phase 2
8 Anticonvulsants Phase 2
9 Gastrointestinal Agents Phase 2
10 Antimetabolites Phase 2
11 Hypolipidemic Agents Phase 2
12 Lipid Regulating Agents Phase 2
13
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
14
Calcium Nutraceutical Phase 2 7440-70-2 271
15
Leucine Investigational, Nutraceutical Phase 1, Phase 2 61-90-5 6106
16
tannic acid Approved Phase 1 1401-55-4
17
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
18 Liver Extracts Phase 1
19 Strawberry Approved
20 Cinnamon Approved
21
Milk thistle Approved, Experimental, Investigational 65666-07-1
22 Cranberry Approved, Investigational
23
Turmeric Approved, Experimental, Investigational
24
Bilberry Approved, Experimental
25 Anti-Bacterial Agents
26 Antibiotics, Antitubercular
27 Chinese Rhubarb
28 Tea
29 Turmeric extract
30 Aloe

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 A Phase 2/3, Double-blind, Randomized, Placebo-controlled, Multi-center Study to Evaluate the Efficacy and Safety of OxabactTM to Reduce Urinary Oxalate in Subjects With Primary Hyperoxaluria. Completed NCT01037231 Phase 2, Phase 3 Placebo
2 A Phase 2/3, Double-Blind, Randomized, Placebo-Controlled, Multi-center, International Study to Evaluate the Efficacy and Safety of OxabactTM to Reduce Urinary Oxalate in Subjects With Primary Hyperoxaluria Completed NCT00638703 Phase 2, Phase 3 Placebo
3 Evaluate the Safety and Efficacy of ALLN-177 in Patients With Enteric Hyperoxaluria: A Phase III Randomized, Placebo-Controlled Study Completed NCT03456830 Phase 3 ALLN-177;Placebo
4 Establishing the Safety and Efficacy of Reloxaliase (Oxalate Decarboxylase) in Patients With Enteric Hyperoxaluria: A Phase III Randomized, Double-Blind, Placebo-Controlled Study (URIROX-2) Recruiting NCT03847090 Phase 3 Reloxaliase;Placebo
5 An Open-label Single-arm Treatment Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact for Patients With Primary Hyperoxaluria Who Completed Study OC5-DB-02 Recruiting NCT03938272 Phase 3
6 Lanthanum Carbonate (Fosrenol®) to Reduce Oxalate Excretion in Patients With Secondary Hyperoxaluria and Nephrolithiasis: a Short-term, Prospective, Open-label, Efficacy and Safety Clinical Trial Recruiting NCT03346369 Phase 3 Lanthanum Carbonate
7 ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 (PH1) Active, not recruiting NCT04152200 Phase 3 Lumasiran
8 ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 Active, not recruiting NCT03681184 Phase 3 Placebo;Lumasiran
9 ILLUMINATE-B: An Open-Label Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 Active, not recruiting NCT03905694 Phase 3 Lumasiran
10 A Phase III Double-blind, Randomised Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Active, not recruiting NCT03116685 Phase 3
11 An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Enrolling by invitation NCT04042402 Phase 3 DCR-PHXC
12 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
13 PILOTSTUDIE ZUR PYRIDOXALPHOSPHATTHERAPIE BEI PATIENTEN MIT PRIMÄRER HYPEROXALURIE TYP I (PHOX-B6-PILOT) Pilot Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
14 A Phase 1/2, Randomised, Placebo-controlled, Double-blind, Multi-centre Study to Evaluate the Efficacy and Safety of OC5 to Reduce Urinary Oxalate in Subjects With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2 Placebo capsules
15 A Phase 2 Open-label Multi-centre Study to Evaluate the Efficacy and Safety of Oxabact® to Reduce Plasma Oxalate in Subjects With Primary Hyperoxaluria Who Are on Dialysis Completed NCT02000219 Phase 2
16 Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria Completed NCT03819647 Phase 2 stiripentol (Diacomit)
17 A Phase 1/2, Single-Blind, Placebo-Controlled, Single and Multiple Ascending Dose Safety, Tolerability, Pharmacokinetic and Pharmacodynamics Study of Subcutaneously Administered ALN-GO1 in Healthy Adult Subjects, and Patients With Primary Hyperoxaluria Type 1 Completed NCT02706886 Phase 1, Phase 2 Lumasiran;Placebo
18 Pilot Study of ALLN-177 in Adult and Pediatric Subjects Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Completed NCT03391804 Phase 2 ALLN-177
19 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
20 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of ALLN-177 Treatment Over 28 Days in Patients With Secondary Hyperoxaluria and Kidney Stones Completed NCT02547805 Phase 2 ALLN-177;Placebo
21 A Pilot Study to Evaluate the Safety and Efficacy of Oxazyme (OC4) in Patients With Hyperoxaluria Completed NCT01127087 Phase 1, Phase 2 Oxazyme
22 A Phase 2b, Multi-center, Randomized, Double Blind, Placebo-controlled, Crossover Study to Evaluate Multiple Doses of ALLN-177 in Recurrent Calcium Oxalate Kidney Stone Formers With Hyperoxaluria Completed NCT02503345 Phase 2 ALLN-177 low dose;ALLN-177 mid dose;ALLN-177 high dose;Placebo
23 A Phase 2 Multicenter, Open Label, Single Arm Study Evaluating the Effect of ALLN-177 to Reduce Urinary Oxalate Excretion in Recurrent Calcium Oxalate Kidney Stone Formers With Hyperoxaluria Completed NCT02289755 Phase 2 ALLN-177
24 Influence of Hydroxyproline Plasma Concentration on Its Metabolism to Oxalate Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
25 A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Active, not recruiting NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
26 A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients With Primary Hyperoxaluria Type 1 Active, not recruiting NCT03350451 Phase 2 Lumasiran
27 A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 or 2 and Severe Renal Impairment, With or Without Dialysis Not yet recruiting NCT04580420 Phase 2 DCR-PHXC
28 Effects of Pyridoxamine on Oxalate Excretion in Stone Disease and Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
29 A Placebo-Controlled, Single-Blind, Single-Center Phase 1 Study in Normal Healthy Volunteers and Open-Label Multi-Center Study in Patients With Primary Hyperoxaluria to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Ascending Doses of DCR-PHXC Solution for Injection (Subcutaneous Use) Completed NCT03392896 Phase 1 DCR-PHXC;Placebo
30 Investigations Into the Genotype and Phenotype of Unclassified Hyperoxaluria: Enteric Oxalate Absorption Study Completed NCT00588120 Phase 1 C-13 labeled oxalate
31 A Double-Blind, Randomized, Placebo-Controlled Study to Assess the Safety, Tolerability, and Pharmacodynamics of SYNB8802 in Healthy Volunteers and in Patients With Enteric Hyperoxaluria Recruiting NCT04629170 Phase 1 SYNB8802;Placebo
32 A Phase 1 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Dose of DCR-PHXC in Patients With Primary Hyperoxaluria Type 3 Not yet recruiting NCT04555486 Phase 1 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
33 A Phase 1 Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PH1
34 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Unknown status NCT02794649
35 Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 Approved for marketing NCT04125472 Lumasiran
36 Oral Antibiotic Treatment of Helicobacter Pylori Reduces Intestinal Colonization Rates With Oxalobacter Formigenes Completed NCT01300039
37 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
38 Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria Completed NCT00589225
39 Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria Completed NCT02340689
40 "Pilot Study: Proteomics of Primary Hyperoxaluria Type 1 (PH1): A Rare Calcium Oxalate Stone Disease" Completed NCT03067142
41 Study of the Effects of DASH Style Diet and Oxalate Restricted Diet on Urinary Supersaturation Which is a Major Predisposing Factor for Nephrolithiasis Completed NCT01650935
42 A Pilot Study of Oxalate Absorption in Secondary Hyperoxaluria Completed NCT03095885
43 Effect of Over-the-counter Dietary Supplements on Kidney Stone Risk Completed NCT02404701
44 Determination of Reference Interval of Spot Urinary Oxalate to Creatinine Ratio in Children of Pakistani Origin Under Six Years of Age Completed NCT04756024
45 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388
46 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
47 Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases Recruiting NCT00588562
48 Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium Recruiting NCT02124395
49 A Natural History Study of Patients With Genetically Confirmed Primary Hyperoxaluria Type 3 With a History of Stone Events Not yet recruiting NCT04542590
50 International Registry for Hereditary Calcium Stone Diseases Withdrawn NCT00875823

Search NIH Clinical Center for Primary Hyperoxaluria

Cochrane evidence based reviews: hyperoxaluria, primary

Sources

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:

40
Kidney, Eye, Bone, Liver, Heart, Bone Marrow, Skin
Sources

Publications for Primary Hyperoxaluria

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Articles related to Primary Hyperoxaluria:

(show top 50) (show all 1260)
# Title Authors PMID Year
1
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 54 61 6
19479957 2009
2
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 6 54 61
19296982 2009
3
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. 61 54 6
19155213 2009
4
Primary hyperoxaluria type 1 with a novel mutation. 54 61 6
18810341 2009
5
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. 61 54 6
18782763 2008
6
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. 61 54 6
18448374 2008
7
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. 54 61 6
18282470 2008
8
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. 61 54 6
17510093 2007
9
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 61 6 54
17495019 2007
10
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 61 54 6
17460142 2007
11
Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. 6 61 54
17110443 2006
12
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. 6 54 61
16306119 2005
13
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 6 61 54
15963748 2005
14
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. 61 6 54
15961945 2005
15
Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. 54 61 6
15802217 2005
16
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. 54 6 61
15327387 2004
17
Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation. 54 61 6
15356974 2004
18
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. 61 54 6
15365967 2004
19
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. 61 54 6
15110324 2004
20
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 6 54 61
14635115 2003
21
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. 61 6 54
12899834 2003
22
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. 54 61 6
12777626 2003
23
Primary hyperoxaluria: genotype-phenotype correlation. 61 6 54
12768081 2003
24
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. 54 61 6
12559847 2003
25
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. 6 54 61
11728965 2001
26
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria. 6 61 54
11708860 2001
27
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. 61 6 54
11562405 2001
28
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. 54 61 6
10960483 2000
29
Identification of 5 novel mutations in the AGXT gene. 6 61 54
10862087 2000
30
Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1. 61 54 6
10737993 2000
31
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 61 54 6
10453743 1999
32
Identification of new mutations in primary hyperoxaluria type 1 (PH1). 54 61 6
9604803 1998
33
Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. 61 6 54
9578076 1998
34
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. 6 54 61
9192270 1997
35
Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease. 54 6 61
9136629 1997
36
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. 6 61 54
9002528 1997
37
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. 54 61 6
8101040 1993
38
A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. 6 54 61
1349575 1992
39
Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. 6 54 61
1961759 1991
40
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. 61 54 6
1879825 1991
41
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. 6 61 54
1703535 1990
42
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. 6 61
28711958 2017
43
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. 61 6
28619084 2017
44
[Oliguria and acute renal dysfunction in a six-month-old infant]. 61 6
28202121 2017
45
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 6 61
27935012 2017
46
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. 61 6
27915025 2016
47
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. 61 6
27659337 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. 61 6
27512303 2016
49
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. 6 61
27096395 2016
50
A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5'UTR causing primary hyperoxaluria type II. 6 61
25410531 2015
Sources

Variations for Primary Hyperoxaluria

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ClinVar genetic disease variations for Primary Hyperoxaluria:

6 (show top 50) (show all 620)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRHPR NM_012203.2(GRHPR):c.246_247TG[1] (p.Val83fs) Microsatellite Pathogenic 162021 rs672601351 GRCh37: 9:37425950-37425951
GRCh38: 9:37425953-37425954
2 HOGA1 NM_138413.4(HOGA1):c.700+4G>T SNV Pathogenic 32 GRCh37: 10:99359924-99359924
GRCh38: 10:97600167-97600167
3 AGXT NM_000030.3(AGXT):c.358+1G>T SNV Pathogenic 204151 rs796052067 GRCh37: 2:241808780-241808780
GRCh38: 2:240869363-240869363
4 AGXT NM_000030.3(AGXT):c.358+2T>G SNV Pathogenic 204152 rs113681235 GRCh37: 2:241808781-241808781
GRCh38: 2:240869364-240869364
5 AGXT NM_000030.3(AGXT):c.680+1G>C SNV Pathogenic 204153 rs111996685 GRCh37: 2:241813480-241813480
GRCh38: 2:240874063-240874063
6 AGXT NM_000030.3(AGXT):c.680+1G>A SNV Pathogenic 204154 rs111996685 GRCh37: 2:241813480-241813480
GRCh38: 2:240874063-240874063
7 AGXT NM_000030.3(AGXT):c.680+2T>A SNV Pathogenic 204155 rs111742810 GRCh37: 2:241813481-241813481
GRCh38: 2:240874064-240874064
8 AGXT NM_000030.3(AGXT):c.680+5G>C SNV Pathogenic 204156 rs180177256 GRCh37: 2:241813484-241813484
GRCh38: 2:240874067-240874067
9 AGXT NM_000030.3(AGXT):c.776+1G>C SNV Pathogenic 204158 rs180177265 GRCh37: 2:241814622-241814622
GRCh38: 2:240875205-240875205
10 AGXT NM_000030.3(AGXT):c.846+1G>T SNV Pathogenic 204159 rs180177281 GRCh37: 2:241815422-241815422
GRCh38: 2:240876005-240876005
11 AGXT NM_000030.3(AGXT):c.846+1G>A SNV Pathogenic 204160 rs180177281 GRCh37: 2:241815422-241815422
GRCh38: 2:240876005-240876005
12 AGXT NM_000030.3(AGXT):c.942+1G>T SNV Pathogenic 204161 rs180177297 GRCh37: 2:241817050-241817050
GRCh38: 2:240877633-240877633
13 AGXT NM_000030.3(AGXT):c.1071+1G>A SNV Pathogenic 204162 rs180177158 GRCh37: 2:241817568-241817568
GRCh38: 2:240878151-240878151
14 AGXT NM_000030.3(AGXT):c.166-1G>A SNV Pathogenic 204163 rs180177177 GRCh37: 2:241808586-241808586
GRCh38: 2:240869169-240869169
15 AGXT NM_000030.3(AGXT):c.525-1G>A SNV Pathogenic 204165 rs180177234 GRCh37: 2:241812395-241812395
GRCh38: 2:240872978-240872978
16 AGXT NM_000030.3(AGXT):c.596-2A>G SNV Pathogenic 204166 rs180177245 GRCh37: 2:241813393-241813393
GRCh38: 2:240873976-240873976
17 AGXT NM_000030.3(AGXT):c.777-2A>G SNV Pathogenic 204167 rs796052068 GRCh37: 2:241815350-241815350
GRCh38: 2:240875933-240875933
18 AGXT NM_000030.3(AGXT):c.943-1G>A SNV Pathogenic 204171 rs180177298 GRCh37: 2:241817438-241817438
GRCh38: 2:240878021-240878021
19 AGXT NM_000030.3(AGXT):c.299_307dup (p.Gly103_Ala104insValLeuVal) Duplication Pathogenic 204181 rs180177193 GRCh37: 2:241808719-241808720
GRCh38: 2:240869302-240869303
20 AGXT NM_000030.3(AGXT):c.359-1_382del Deletion Pathogenic 204183 rs796052070 GRCh37: 2:241810057-241810081
GRCh38: 2:240870640-240870664
21 AGXT NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) Indel Pathogenic 204188 rs180177233 GRCh37: 2:241810861-241810862
GRCh38: 2:240871444-240871445
22 AGXT NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) Indel Pathogenic 204189 rs180177237 GRCh37: 2:241812428-241812433
GRCh38: 2:240873011-240873016
23 AGXT NM_000030.3(AGXT):c.679_680+2del Deletion Pathogenic 204195 rs180177255 GRCh37: 2:241813478-241813481
GRCh38: 2:240874061-240874064
24 AGXT NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA Indel Pathogenic 204196 rs1553648931 GRCh37: 2:241813959-241814690
GRCh38: 2:240874542-240875273
25 AGXT NM_000030.3(AGXT):c.829_830insA (p.Ala277fs) Insertion Pathogenic 204202 rs180177275 GRCh37: 2:241815404-241815405
GRCh38: 2:240875987-240875988
26 AGXT NM_000030.3(AGXT):c.846+646_942+139del Deletion Pathogenic 204204 GRCh37: 2:241816067-241817188
GRCh38: 2:240876650-240877771
27 AGXT NG_008005.1:g.(14407_14970)_(15375_?)del Deletion Pathogenic 204213 GRCh37: 2:241817568-241818536
GRCh38: 2:240878151-240879119
28 AGXT NG_008005.1:g.(?_5001)_(9305_10233)del Deletion Pathogenic 204214 GRCh37: 2:241808162-241813394
GRCh38: 2:240868745-240873977
29 AGXT NG_008005.1:g.(?_5001)_(11460_12190)del Deletion Pathogenic 204215 GRCh37: 2:241808162-241815351
GRCh38: 2:240868745-240875934
30 AGXT NG_008005.1:g.(7706_9235)_(15375_?)del Deletion Pathogenic 204216 GRCh37: 2:241810867-241818536
GRCh38: 2:240871450-240879119
31 overlap with 36 genes NC_000002.12:g.(?_239048168)_(240879119_?)del Deletion Pathogenic 204217 GRCh37:
GRCh38: 2:239048168-240879119
32 AGXT AGXT, 1-BP INS, 33C Insertion Pathogenic 39487 GRCh37:
GRCh38:
33 GRHPR NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) SNV Pathogenic 204232 rs180177305 GRCh37: 9:37424961-37424961
GRCh38: 9:37424964-37424964
34 GRHPR NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) SNV Pathogenic 204233 rs796052078 GRCh37: 9:37425991-37425991
GRCh38: 9:37425994-37425994
35 GRHPR NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) SNV Pathogenic 204234 rs180177312 GRCh37: 9:37428554-37428554
GRCh38: 9:37428557-37428557
36 GRHPR NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) SNV Pathogenic 204235 rs180177314 GRCh37: 9:37429729-37429729
GRCh38: 9:37429732-37429732
37 GRHPR NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) SNV Pathogenic 204236 rs796052079 GRCh37: 9:37432013-37432013
GRCh38: 9:37432016-37432016
38 GRHPR NM_012203.2(GRHPR):c.905G>A (p.Arg302His) SNV Pathogenic 204237 rs180177323 GRCh37: 9:37436697-37436697
GRCh38: 9:37436700-37436700
39 GRHPR NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) SNV Pathogenic 204238 rs180177324 GRCh37: 9:37436726-37436726
GRCh38: 9:37436729-37436729
40 GRHPR NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) SNV Pathogenic 204239 rs180177325 GRCh37: 9:37436757-37436757
GRCh38: 9:37436760-37436760
41 GRHPR NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) SNV Pathogenic 204240 rs180177325 GRCh37: 9:37436757-37436757
GRCh38: 9:37436760-37436760
42 GRHPR NM_012203.2(GRHPR):c.84-2A>G SNV Pathogenic 204241 rs180177319 GRCh37: 9:37424840-37424840
GRCh38: 9:37424843-37424843
43 GRHPR NM_012203.2(GRHPR):c.45del (p.Ala17fs) Deletion Pathogenic 204245 rs180177311 GRCh37: 9:37422792-37422792
GRCh38: 9:37422795-37422795
44 GRHPR NM_012203.2(GRHPR):c.84-13_84-12del Deletion Pathogenic 204246 rs796052080 GRCh37: 9:37424828-37424829
GRCh38: 9:37424831-37424832
45 GRHPR NM_012203.2(GRHPR):c.288-2_288del Deletion Pathogenic 204247 rs796052081 GRCh37: 9:37426531-37426533
GRCh38: 9:37426534-37426536
46 GRHPR NG_008135.1:g.8888_8892delins7465_7744 Indel Pathogenic 204248 GRCh37: 9:37426597-37426598
GRCh38: 9:37426600-37426601
47 GRHPR NM_012203.2(GRHPR):c.375del (p.Leu126fs) Deletion Pathogenic 204249 rs180177308 GRCh37: 9:37426621-37426621
GRCh38: 9:37426624-37426624
48 GRHPR NM_012203.2(GRHPR):c.540del (p.Leu181fs) Deletion Pathogenic 204251 rs180177315 GRCh37: 9:37429773-37429773
GRCh38: 9:37429776-37429776
49 GRHPR NM_012203.2(GRHPR):c.-4_-3delinsAT Indel Pathogenic 204230 rs796052077 GRCh37: 9:37422744-37422745
GRCh38: 9:37422747-37422748
50 HOGA1 NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) SNV Pathogenic 204268 rs746419489 GRCh37: 10:99344577-99344577
GRCh38: 10:97584820-97584820
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:

36
# 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 65
Show member pathways
 13.83 PRODH2 PRODH HSP90AA1 HOGA1 HAO1 GSR
2
Viral mRNA Translation 65
Show member pathways
 13.55 PRODH HAO1 GSR GRHPR GOT2 DAO
3
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism 65
Show member pathways
 11.74 PRODH GOT2 ALDH4A1
4
Peroxisome 36
11.58 PEX5 HAO1 DAO AGXT
5
Glycine, serine and threonine metabolism 36
Show member pathways
 11.34 GRHPR DAO AGXT2 AGXT
6
Alanine, aspartate and glutamate metabolism 36
11.13 GOT2 ALDH4A1 AGXT2 AGXT
7
Glyoxylate and dicarboxylate metabolism 36
10.93 HOGA1 HAO1 GRHPR AGXT
8
Glyoxylate metabolism and glycine degradation 65
Show member pathways
 10.9 HAO1 GRHPR DAO AGXT2 AGXT
9
Arginine and proline metabolism 36
Show member pathways
 10.86 PRODH2 PRODH HOGA1 GOT2 DAO ALDH4A1
10
Alanine and aspartate metabolism 1
Show member pathways
 10.55 GOT2 AGXT
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 9.85 PRODH2 PRODH PEX5 HSP90AA1 HOGA1 GSR
2 peroxisome GO:0005777 9.56 PEX5 HAO1 DAO AGXT
3 mitochondrial matrix GO:0005759 9.5 PRODH HOGA1 GSR GOT2 ALDH4A1 AGXT2
4 peroxisomal matrix GO:0005782 9.02 PEX5 HAO1 GRHPR DAO AGXT

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.03 PRODH2 PRODH KDM4C HAO1 GSR GRHPR
2 protein targeting to peroxisome GO:0006625 9.76 PEX5 HAO1 DAO AGXT
3 proline catabolic process to glutamate GO:0010133 9.58 PRODH2 PRODH ALDH4A1
4 cellular nitrogen compound metabolic process GO:0034641 9.56 HAO1 GRHPR DAO AGXT
5 chaperone-mediated autophagy GO:0061684 9.55 HSPA8 HSP90AA1
6 pyruvate biosynthetic process GO:0042866 9.54 HOGA1 AGXT
7 glyoxylate catabolic process GO:0009436 9.54 HOGA1 AGXT2 AGXT
8 dicarboxylic acid metabolic process GO:0043648 9.52 GRHPR GOT2
9 ureter maturation GO:0035799 9.51 RET PAX2
10 proline metabolic process GO:0006560 9.5 PRODH2 PRODH ALDH4A1
11 positive regulation of metanephric glomerulus development GO:0072300 9.49 RET PAX2
12 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.48 AGXT2 AGXT
13 proline catabolic process GO:0006562 9.46 PRODH2 PRODH DAO ALDH4A1
14 4-hydroxyproline catabolic process GO:0019470 9.26 PRODH HOGA1 GOT2 ALDH4A1
15 glyoxylate metabolic process GO:0046487 9.17 PRODH2 HOGA1 GRHPR GOT2 ALDH4A1 AGXT2

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.85 HOGA1 HAO1 GOT2 AGXT2 AGXT
2 enzyme binding GO:0019899 9.77 PEX5 KDM4C HSPA8 GOT2 CBX1
3 pyridoxal phosphate binding GO:0030170 9.58 GOT2 AGXT2 AGXT
4 FAD binding GO:0071949 9.5 PRODH2 PRODH DAO
5 MHC class II protein complex binding GO:0023026 9.48 HSPA8 HSP90AA1
6 carboxylic acid binding GO:0031406 9.43 GRHPR GOT2
7 proline dehydrogenase activity GO:0004657 9.26 PRODH2 PRODH
8 oxidoreductase activity GO:0016491 9.23 PRODH2 PRODH KDM4C HAO1 GSR GRHPR
9 alanine-glyoxylate transaminase activity GO:0008453 9.16 AGXT2 AGXT
10 transaminase activity GO:0008483 9.13 GOT2 AGXT2 AGXT
Sources

Sources for Primary Hyperoxaluria

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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