MCID: PRM002
MIFTS: 60

Primary Hyperoxaluria

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Primary Hyperoxaluria

MalaCards integrated aliases for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 11 42 58 75 28 5 14 71
Hyperoxaluria, Primary 42 75 43
Hyperoxaluria 43 38 71
Oxalosis 42 75 71
Primary Oxalosis 42 71
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 42
D-Glycerate Dehydrogenase Deficiency 42
Primary Hyperoxaluria, Type I 71
Primary Hyperoxaluria Type 2 71
Hepatic Agt Deficiency 42
Hyperoxaluria Primary 53
Congenital Oxaluria 42
Glycolic Aciduria 42
Glyceric Aciduria 42
Oxaluria, Primary 42
Primary Oxaluria 42

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/1000000 (Germany, Worldwide) <1/1000000 (Worldwide) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:2977
NCIt 49 C123158
MESH via Orphanet 44 D006959
ICD10 via Orphanet 32 E74.8
UMLS via Orphanet 72 C0020500 C0020501
Orphanet 58 ORPHA416
UMLS 71 C0020500 C0020501 C0268164 more

Summaries for Primary Hyperoxaluria

MedlinePlus Genetics: 42 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 ii and hyperoxaluria, primary, type iii, and has symptoms including bone pain An important gene associated with Primary Hyperoxaluria is AGXT (Alanine--Glyoxylate Aminotransferase), and among its related pathways/superpathways are Chromatin organization and Cellular Senescence. The drugs Dapagliflozin and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are calcium oxalate nephrolithiasis and hyperoxaluria

Orphanet: 58 A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.

Disease Ontology: 11 A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.

Wikipedia: 75 Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of... more...

Related Diseases for Primary Hyperoxaluria

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type I Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

Diseases related to Primary Hyperoxaluria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 370)
# Related Disease Score Top Affiliating Genes
1 hyperoxaluria, primary, type ii 33.5 HOGA1 GRHPR AGXT
2 hyperoxaluria, primary, type iii 33.5 HOGA1 GRHPR AGXT
3 hyperoxaluria, primary, type i 33.2 TRIM28 SUV39H1 SETDB1 KDM4C H3-7 H2BC21
4 nephrolithiasis, calcium oxalate 32.8 SPP1 GRHPR AGXT
5 nephrocalcinosis 32.1 SPP1 GRHPR AGXT
6 nephrolithiasis 32.0 SPP1 GRHPR AGXT
7 urolithiasis 32.0 SPP1 HOGA1 AGXT
8 adenine phosphoribosyltransferase deficiency 30.5 HOGA1 GRHPR AGXT
9 ureterolithiasis 30.4 GRHPR AGXT
10 alcohol use disorder 30.3 PRODH KDM4C H2AC18
11 autoimmune vasculitis 30.1 KDM4C H2AC18
12 disorder of glyoxylate metabolism 11.4
13 end stage renal disease 11.0
14 crystal arthropathies 10.9
15 kidney disease 10.7
16 chronic kidney disease 10.6
17 purine-pyrimidine metabolic disorder 10.5 HOGA1 GRHPR AGXT
18 brain stem cancer 10.5 KDM4C H3-7 H2AC18
19 xanthinuria 10.5 PRODH HOGA1 GRHPR AGXT
20 rhabdoid cancer 10.5 SPP1 KDM4C H2AC18
21 fetal alcohol spectrum disorder 10.5 KDM4C H2AC18 EHMT2
22 epilepsy, idiopathic generalized 2 10.5 H2BC21 H2AC20 H2AC18
23 urethral calculus 10.5 HOGA1 GRHPR
24 cystinuria 10.5 PRODH HOGA1 GRHPR AGXT
25 mature t-cell and nk-cell lymphoma 10.5 KDM4C H3-7 H2AC18
26 kleefstra syndrome 1 10.5 H3-7 H2AC18 EHMT2
27 kleefstra syndrome 10.5 KDM4C H3-7 H2AC18 EHMT2
28 alpha thalassemia-x-linked intellectual disability syndrome 10.5 H3-7 H2AC20 H2AC18 CBX5
29 weaver syndrome 10.5 KDM4C H3-7 H2AC18
30 kabuki syndrome 1 10.4 KDM4C H3-7 H2AC18
31 urinary tract infection 10.4
32 cerebral degeneration 10.4 PRODH PEX5 H2AC18
33 hutchinson-gilford progeria syndrome 10.4 SUV39H1 H2AC18 CBX5 CBX3 CBX1
34 aspergillosis 10.4
35 abdominal obesity-metabolic syndrome 1 10.4
36 transient neonatal diabetes mellitus 10.4 TRIM28 SETDB1 H2AC18
37 infratentorial cancer 10.4 KDM4C H3-7 H2AC18
38 chromosome 16p13.3 deletion syndrome, proximal 10.4 KDM4C H3-7 H2BC21 H2AC20 H2AC18
39 cartilage-hair hypoplasia 10.4 KDM4C H3-7 H2BC21 H2AC20 H2AC18
40 chromosomal duplication syndrome 10.4 PRODH KDM4C H2AC18
41 chromosomal deletion syndrome 10.4 PRODH KDM4C H2AC18
42 beckwith-wiedemann syndrome 10.4 KDM4C H3-7 H2AC18 EHMT2
43 amino acid metabolic disorder 10.4 PRODH KDM4C H2AC18
44 germ cell cancer 10.4 PRODH KDM4C H2AC18
45 inherited metabolic disorder 10.4
46 biotin deficiency 10.4 H2AC20 H2AC18
47 meier-gorlin syndrome 1 10.4 SETDB1 KDM4C H2AC18
48 leukemia, acute myeloid 10.4 PRODH KDM4C H3-7 H2BC21 H2AC18 EHMT2
49 bone disease 10.4
50 atrial heart septal defect 10.4 PRODH KDM4C H2AC18

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



Diseases related to Primary Hyperoxaluria

Symptoms & Phenotypes for Primary Hyperoxaluria

Human phenotypes related to Primary Hyperoxaluria:

58 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 calcium oxalate nephrolithiasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008672
2 hyperoxaluria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003159
3 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
4 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
5 retinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000488
6 elevated hepatic transaminase 58 30 Frequent (33%) Frequent (79-30%)
HP:0002910
7 hematuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000790
8 nephrocalcinosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000121
9 recurrent fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002757
10 reduced visual acuity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007663
11 peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0009830
12 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
13 generalized osteosclerosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005789
14 gangrene 58 30 Frequent (33%) Frequent (79-30%)
HP:0100758
15 optic disc pallor 58 30 Frequent (33%) Frequent (79-30%)
HP:0000543
16 heart block 58 30 Frequent (33%) Frequent (79-30%)
HP:0012722
17 metabolic acidosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001942
18 raynaud phenomenon 58 30 Frequent (33%) Frequent (79-30%)
HP:0030880
19 intermittent claudication 58 30 Frequent (33%) Frequent (79-30%)
HP:0004417
20 choroidal neovascularization 58 30 Frequent (33%) Frequent (79-30%)
HP:0011506
21 arterial occlusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0025324
22 rootless teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0011072
23 elevated urine glycolate 58 30 Frequent (33%) Frequent (79-30%)
HP:0031981
24 abnormal dental pulp morphology 30 Frequent (33%) HP:0006479
25 acrocyanosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001063
26 hypercalciuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002150
27 stage 5 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003774
28 cutis marmorata 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000965
29 cardiomyopathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001638
30 calcinosis cutis 58 30 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 abnormality of the dental pulp 58 Frequent (79-30%)
34 aciduria 58 Frequent (79-30%)

UMLS symptoms related to Primary Hyperoxaluria:


bone pain

Drugs & Therapeutics for Primary Hyperoxaluria

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dapagliflozin Approved Phase 4 461432-26-8 9887712
2
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
3 Antihypertensive Agents Phase 4
4 Sodium-Glucose Transporter 2 Inhibitors Phase 4
5 Hypoglycemic Agents Phase 4
6 Sodium Chloride Symporter Inhibitors Phase 4
7 diuretics Phase 4
8
Lumasiran Approved, Investigational Phase 3 1834610-13-7
9 Pharmaceutical Solutions Phase 3
10
Stiripentol Approved Phase 2 49763-96-4 5311454
11
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
12
Pyridoxal phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
13
N,N,N-trimethylglycinium Approved, Experimental, Investigational, Nutraceutical Phase 2 6915-17-9, 107-43-7 248
14 Calcium, Dietary Phase 2
15 Anticonvulsants Phase 2
16 Vitamin B6 Phase 2
17 Vitamin B 6 Phase 2
18 Antimetabolites Phase 2
19 Hypolipidemic Agents Phase 2
20 Lipid Regulating Agents Phase 2
21 Gastrointestinal Agents Phase 2
22 Brewer's Yeast Phase 1, Phase 2
23 Acidophilus Phase 1, Phase 2
24
Calcium Nutraceutical Phase 2 7440-70-2 271
25
Pyridoxal Experimental, Nutraceutical Phase 2 66-72-8 1050
26
D-Leucine Experimental, Investigational, Nutraceutical Phase 1, Phase 2 328-38-1, 61-90-5 439524 6106
27
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
28
Tannic acid Approved Phase 1 1401-55-4 16129878 16129778
29 Liver Extracts Phase 1
30
Bilberry Approved, Experimental
31
Turmeric Approved, Experimental, Investigational
32 Cinnamon Approved
33 Cranberry Approved, Investigational
34
Milk thistle Approved, Experimental, Investigational 65666-07-1
35
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
36 Aloe
37 Turmeric extract
38 Tea

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Dapagliflozin and Hydrochlorothiazide Treatment in Recurring Kidney Stone Patients - a Randomised Single Center Cross-over Study Not yet recruiting NCT05443932 Phase 4 Dapagliflozin;Hydrochlorothiazide
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 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
4 A Phase III Double-blind, Randomised Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Completed NCT03116685 Phase 3
5 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
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-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
9 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
10 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
11 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 Terminated NCT03938272 Phase 3
12 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) Terminated NCT03847090 Phase 3 Reloxaliase;Placebo
13 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
14 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 Completed NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
15 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
16 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
17 Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria Completed NCT03819647 Phase 2 stiripentol (Diacomit)
18 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
19 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
20 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
21 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
22 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
23 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
24 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
25 A Pilot Study to Evaluate the Safety and Efficacy of Oxazyme (OC4) in Patients With Hyperoxaluria Completed NCT01127087 Phase 1, Phase 2 Oxazyme
26 Influence of Hydroxyproline Plasma Concentration on Its Metabolism to Oxalate Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
27 Use of Oral Probiotics to Reduce Urinary Oxalate Excretion Completed NCT00587041 Phase 1, Phase 2
28 A Phase 2 Open-Label Multicenter Study to Evaluate the Safety, Pharmacokinetics, and Efficacy of Nedosiran in Pediatric Patients From Birth to 11Years of Age With Primary Hyperoxaluria and Relatively Intact Renal Function Recruiting NCT05001269 Phase 2 nedosiran
29 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 Recruiting NCT04580420 Phase 2 DCR-PHXC
30 Phase 1-2a Safety, Tolerability, and Pharmacodynamics Controlled Study of NOV-001 in Healthy Volunteers and Patients With Enteric Hyperoxaluria Recruiting NCT04909723 Phase 1, Phase 2 NB2000P;Placebo
31 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
32 Effects of Pyridoxamine on Oxalate Excretion in Stone Disease and Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
33 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 Completed NCT04555486 Phase 1 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
34 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
35 Investigations Into the Genotype and Phenotype of Unclassified Hyperoxaluria: Enteric Oxalate Absorption Study Completed NCT00588120 Phase 1 C-13 labeled oxalate
36 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
37 A Phase 1 Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PH1
38 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Unknown status NCT02794649
39 Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 Approved for marketing NCT04125472 Lumasiran
40 "Pilot Study: Proteomics of Primary Hyperoxaluria Type 1 (PH1): A Rare Calcium Oxalate Stone Disease" Completed NCT03067142
41 Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium Completed NCT02124395
42 Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria Completed NCT00589225
43 Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria Completed NCT02340689
44 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
45 A Pilot Study of Oxalate Absorption in Secondary Hyperoxaluria Completed NCT03095885
46 Determination of Reference Interval of Spot Urinary Oxalate to Creatinine Ratio in Children of Pakistani Origin Under Six Years of Age Completed NCT04756024
47 Plasma Oxalate in Patient With Short Bowel Completed NCT04119765
48 Relationship of Spot Urine Oxalate to Creatinine Ratio and 24 Hours Urinary Oxalate Excretion in Patients With Urolithiasis Completed NCT04571359
49 Effect of Over-the-counter Dietary Supplements on Kidney Stone Risk Completed NCT02404701
50 Urinary Proteomic Profiling Using ProteinChip SELDI-TOF-MS: A Potential Means of Identifying Protein Biomarkers of Urinary Stone Formers Completed NCT00199459

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 28

Anatomical Context for Primary Hyperoxaluria

Organs/tissues related to Primary Hyperoxaluria:

MalaCards : Kidney, Liver, Bone, Heart, Bone Marrow, Small Intestine, Spinal Cord

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 3207)
# Title Authors PMID Year
1
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 53 62 5
19479957 2009
2
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. 53 62 5
18282470 2008
3
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 53 62 5
17495019 2007
4
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 53 62 5
17460142 2007
5
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 53 62 5
15963748 2005
6
Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. 53 62 5
15802217 2005
7
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. 53 62 5
15327387 2004
8
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. 53 62 5
15365967 2004
9
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. 53 62 5
15110324 2004
10
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. 53 62 5
12777626 2003
11
Primary hyperoxaluria: genotype-phenotype correlation. 53 62 5
12768081 2003
12
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. 53 62 5
11562405 2001
13
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. 53 62 5
10960483 2000
14
Identification of 5 novel mutations in the AGXT gene. 53 62 5
10862087 2000
15
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 53 62 5
10453743 1999
16
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. 53 62 5
1703535 1990
17
Clinical analysis of 13 children with primary hyperoxaluria type 1. 62 5
33721035 2021
18
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome. 62 5
33691640 2021
19
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. 62 5
32556641 2021
20
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization. 62 5
32792227 2020
21
The Ocular Phenotype in Primary Hyperoxaluria Type 1. 62 5
31078535 2019
22
A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population. 62 5
30541997 2018
23
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. 62 5
30341509 2018
24
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. 62 5
28904440 2017
25
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. 62 5
28619084 2017
26
[Oliguria and acute renal dysfunction in a six-month-old infant]. 62 5
28202121 2017
27
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. 62 5
27915025 2016
28
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. 62 5
27512303 2016
29
Calcium oxalate crystalluria points to primary hyperoxaluria type 1. 62 5
26759051 2016
30
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 62 5
25644115 2015
31
Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1. 62 5
26252291 2015
32
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 62 5
25629080 2015
33
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 62 5
24988064 2014
34
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation. 62 5
24990153 2014
35
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 62 5
24116921 2014
36
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. 62 5
24934730 2014
37
Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. 62 5
24385516 2014
38
Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. 62 5
23810941 2013
39
Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. 62 5
22844106 2012
40
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. 62 5
22821680 2012
41
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1. 62 5
22529745 2012
42
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. 62 5
19571789 2009
43
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. 62 5
16971151 2006
44
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. 62 5
15464418 2004
45
Clinical implications of mutation analysis in primary hyperoxaluria type 1. 62 5
15253729 2004
46
Diagnostic and clinical utility of genetic testing in children with kidney failure. 5
34031707 2021
47
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. 5
31589614 2019
48
Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant. 5
20713123 2010
49
Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting. 53 62
20208150 2010
50
Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1. 53 62
20150937 2010

Variations for Primary Hyperoxaluria

ClinVar genetic disease variations for Primary Hyperoxaluria:

5 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGXT NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) SNV Pathogenic
204109 rs180177232 GRCh37: 2:241810861-241810861
GRCh38: 2:240871444-240871444
2 AGXT NM_000030.3(AGXT):c.847-1G>C SNV Pathogenic
204168 rs180177285 GRCh37: 2:241816953-241816953
GRCh38: 2:240877536-240877536
3 GRHPR NM_012203.2(GRHPR):c.866_867del (p.Val289fs) MICROSAT Pathogenic
162020 rs180177321 GRCh37: 9:37432132-37432133
GRCh38: 9:37432135-37432136
4 GRHPR NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) SNV Pathogenic
204235 rs180177314 GRCh37: 9:37429729-37429729
GRCh38: 9:37429732-37429732
5 AGXT NM_000030.3(AGXT):c.777-1G>C SNV Pathogenic
188774 rs180177267 GRCh37: 2:241815351-241815351
GRCh38: 2:240875934-240875934
6 AGXT NM_000030.3(AGXT):c.33dup (p.Lys12fs) DUP Pathogenic
140583 rs180177201 GRCh37: 2:241808307-241808308
GRCh38: 2:240868890-240868891
7 AGXT NM_000030.3(AGXT):c.846+1G>T SNV Pathogenic
204159 rs180177281 GRCh37: 2:241815422-241815422
GRCh38: 2:240876005-240876005
8 AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) SNV Pathogenic
5646 rs121908525 GRCh37: 2:241814576-241814576
GRCh38: 2:240875159-240875159
9 AGXT NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) SNV Pathogenic
40166 rs121908529 GRCh37: 2:241810850-241810850
GRCh38: 2:240871433-240871433
10 AGXT NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) SNV Pathogenic
5645 rs121908524 GRCh37: 2:241810796-241810796
GRCh38: 2:240871379-240871379
11 AGXT NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) MICROSAT Pathogenic
204201 rs180177273 GRCh37: 2:241815390-241815391
GRCh38: 2:240875973-240875974
12 AGXT NM_000030.3(AGXT):c.126del (p.Leu43fs) DEL Pathogenic
204176 rs180177171 GRCh37: 2:241808403-241808403
GRCh38: 2:240868986-240868986
13 AGXT NM_000030.3(AGXT):c.447_454del (p.Leu151fs) DEL Pathogenic
204185 rs180177221 GRCh37: 2:241810787-241810794
GRCh38: 2:240871370-240871377
14 AGXT NM_000030.3(AGXT):c.33del (p.Lys12fs) DEL Pathogenic
188775 rs180177201 GRCh37: 2:241808308-241808308
GRCh38: 2:240868891-240868891
15 AGXT NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) SNV Pathogenic
188986 rs180177156 GRCh37: 2:241817545-241817545
GRCh38: 2:240878128-240878128
16 AGXT NM_000030.3(AGXT):c.976del (p.Val326fs) DEL Pathogenic
189161 rs180177301 GRCh37: 2:241817472-241817472
GRCh38: 2:240878055-240878055
17 AGXT NM_000030.3(AGXT):c.570del (p.Thr191fs) DEL Pathogenic
204190 rs180177240 GRCh37: 2:241812439-241812439
GRCh38: 2:240873022-240873022
18 AGXT NM_000030.3(AGXT):c.577del (p.Leu193fs) DEL Pathogenic
204191 rs180177241 GRCh37: 2:241812443-241812443
GRCh38: 2:240873026-240873026
19 AGXT NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) SNV Pathogenic
5650 rs121908530 GRCh37: 2:241810808-241810808
GRCh38: 2:240871391-240871391
20 GRHPR NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) SNV Pathogenic
5637 rs119490108 GRCh37: 9:37426542-37426542
GRCh38: 9:37426545-37426545
21 AGXT NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) SNV Pathogenic
204083 rs180177184 GRCh37: 2:241808663-241808663
GRCh38: 2:240869246-240869246
22 AGXT NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) SNV Pathogenic
204118 rs180177248 GRCh37: 2:241813413-241813413
GRCh38: 2:240873996-240873996
23 AGXT NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) SNV Likely Pathogenic
633034 rs569643246 GRCh37: 2:241818143-241818143
GRCh38: 2:240878726-240878726
24 AGXT NM_000030.3(AGXT):c.662_664del (p.Ser221del) DEL Likely Pathogenic
204194 rs796052071 GRCh37: 2:241813459-241813461
GRCh38: 2:240874042-240874044
25 AGXT NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) SNV Likely Pathogenic
204069 rs34116584 GRCh37: 2:241808314-241808314
GRCh38: 2:240868897-240868897
26 AGXT NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) DUP Likely Pathogenic
204175 rs180177166 GRCh37: 2:241808397-241808398
GRCh38: 2:240868980-240868981
27 AGXT NM_000030.3(AGXT):c.577dup (p.Leu193fs) DUP Likely Pathogenic
204192 rs180177241 GRCh37: 2:241812442-241812443
GRCh38: 2:240873025-240873026
28 HOGA1 NM_138413.4(HOGA1):c.*353_*354dup DUP Uncertain Significance
301809 rs5787248 GRCh37: 10:99371766-99371767
GRCh38: 10:97612009-97612010
29 HOGA1 NM_138413.4(HOGA1):c.*359dup DUP Uncertain Significance
301812 rs561998392 GRCh37: 10:99371771-99371772
GRCh38: 10:97612014-97612015
30 HOGA1 NM_138413.4(HOGA1):c.*204T>A SNV Uncertain Significance
301802 rs886047519 GRCh37: 10:99371620-99371620
GRCh38: 10:97611863-97611863
31 HOGA1 NM_138413.4(HOGA1):c.*354dup DUP Uncertain Significance
301811 rs5787248 GRCh37: 10:99371766-99371767
GRCh38: 10:97612009-97612010
32 HOGA1 NM_138413.4(HOGA1):c.*350dup DUP Uncertain Significance
301808 rs1554875325 GRCh37: 10:99371764-99371765
GRCh38: 10:97612007-97612008
33 HOGA1 NM_138413.4(HOGA1):c.*381AG[1] MICROSAT Uncertain Significance
301814 rs886047523 GRCh37: 10:99371797-99371798
GRCh38: 10:97612040-97612041
34 MOCOS NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter) SNV Uncertain Significance
870592 rs2091405838 GRCh37: 18:33779979-33779979
GRCh38: 18:36200016-36200016
35 AGXT NM_000030.3(AGXT):c.489G>A (p.Leu163=) SNV Uncertain Significance
204040 rs147601535 GRCh37: 2:241810831-241810831
GRCh38: 2:240871414-240871414
36 HOGA1 NM_138413.4(HOGA1):c.701-11_701-8dup DUP Likely Benign
301794 rs143018385 GRCh37: 10:99361599-99361600
GRCh38: 10:97601842-97601843
37 AGXT NM_000030.2(AGXT):c.-46G>A SNV Likely Benign
335291 rs73106672 GRCh37: 2:241808237-241808237
GRCh38: 2:240868820-240868820

Expression for Primary Hyperoxaluria

Search GEO for disease gene expression data for Primary Hyperoxaluria.

Pathways for Primary Hyperoxaluria

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 nucleosome GO:0000786 10.02 H3-7 H2BC21 H2AC20 H2AC18 H1-0
2 euchromatin GO:0000791 9.91 TRIM28 H1-0 CBX3
3 chromosome, centromeric region GO:0000775 9.91 SUV39H1 CBX5 CBX3 CBX1
4 site of DNA damage GO:0090734 9.88 CBX5 CBX3 CBX1
5 peroxisomal matrix GO:0005782 9.86 AGXT GRHPR HAO1 PEX5
6 pericentric heterochromatin GO:0005721 9.76 KDM4C CBX5 CBX3 CBX1
7 heterochromatin GO:0000792 9.65 TRIM28 SUV39H1 CBX5 CBX3 CBX1
8 chromosome GO:0005694 9.32 SUV39H1 SETDB1 H3-7 H2BC21 H2AC20 H2AC18

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

# Name GO ID Score Top Affiliating Genes
1 histone H3-K9 methylation GO:0051567 9.67 EHMT2 SETDB1
2 4-hydroxyproline catabolic process GO:0019470 9.62 PRODH HOGA1
3 glyoxylate catabolic process GO:0009436 9.56 HOGA1 AGXT
4 histone lysine methylation GO:0034968 9.55 SUV39H1 SETDB1 EHMT2
5 chromatin organization GO:0006325 9.47 TRIM28 SUV39H1 SETDB1 KDM4C EHMT2 CBX5
6 glyoxylate metabolic process GO:0046487 9.43 HOGA1 GRHPR AGXT

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 10.03 TRIM28 SUV39H1 SETDB1 CBX5 CBX3 CBX1
2 promoter-specific chromatin binding GO:1990841 9.8 TRIM28 SETDB1 EHMT2
3 histone lysine N-methyltransferase activity GO:0018024 9.63 SUV39H1 SETDB1 EHMT2
4 histone H3K9 methyltransferase activity GO:0046974 9.43 SUV39H1 SETDB1 EHMT2
5 structural constituent of chromatin GO:0030527 9.32 H3-7 H2BC21 H2AC20 H2AC18 H1-0

Sources for Primary Hyperoxaluria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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