Primary Hyperoxaluria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRM002 MIFTS: 60	Primary Hyperoxaluria Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Nephrological diseases Liver diseases Endocrine diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Other specified disorders of carbohydrate metabolism

Orphanet: ⁵⁸

Rare renal diseases

Inborn errors of metabolism

External Ids:

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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...

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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:

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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

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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

Dapagliflozin

Approved

Phase 4

461432-26-8

9887712

Hydrochlorothiazide

Approved, Vet_approved

Phase 4

58-93-5

3639

Antihypertensive Agents

Phase 4

Sodium-Glucose Transporter 2 Inhibitors

Phase 4

Hypoglycemic Agents

Phase 4

Sodium Chloride Symporter Inhibitors

Phase 4

diuretics

Phase 4

Lumasiran

Approved, Investigational

Phase 3

1834610-13-7

Pharmaceutical Solutions

Phase 3

Stiripentol

Approved

Phase 2

49763-96-4

5311454

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 2

65-23-6

1054

Pyridoxal phosphate

Approved, Investigational, Nutraceutical

Phase 2

54-47-7

1051

N,N,N-trimethylglycinium

Approved, Experimental, Investigational, Nutraceutical

Phase 2

6915-17-9, 107-43-7

248

Calcium, Dietary

Phase 2

Anticonvulsants

Phase 2

Vitamin B6

Phase 2

Vitamin B 6

Phase 2

Antimetabolites

Phase 2

Hypolipidemic Agents

Phase 2

Lipid Regulating Agents

Phase 2

Gastrointestinal Agents

Phase 2

Brewer's Yeast

Phase 1, Phase 2

Acidophilus

Phase 1, Phase 2

Calcium

Nutraceutical

Phase 2

7440-70-2

271

Pyridoxal

Experimental, Nutraceutical

Phase 2

66-72-8

1050

D-Leucine

Experimental, Investigational, Nutraceutical

Phase 1, Phase 2

328-38-1, 61-90-5

439524 6106

Benzocaine

Approved, Investigational

Phase 1

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 1

1401-55-4

16129878 16129778

Liver Extracts

Phase 1

Bilberry

Approved, Experimental

Turmeric

Approved, Experimental, Investigational

Cinnamon

Approved

Cranberry

Approved, Investigational

Milk thistle

Approved, Experimental, Investigational

65666-07-1

Ascorbic acid

Approved, Nutraceutical

50-81-7

54676860 54670067 5785

Aloe

Turmeric extract

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

Sources

Genetic Tests for Primary Hyperoxaluria

Genetic tests related to Primary Hyperoxaluria:

#	Genetic test	Affiliating Genes
1	Primary Hyperoxaluria ²⁸

Sources

Anatomical Context for Primary Hyperoxaluria

Organs/tissues related to Primary Hyperoxaluria:

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

Sources

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	Williams EL...Rumsby G	19479957	2009
2	Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. ⁵³ ⁶² ⁵	Coulter-Mackie MB...Vallance H	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	Williams E...Rumsby G	17495019	2007
4	Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. ⁵³ ⁶² ⁵	Monico CG...Milliner DS	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	Coulter-Mackie MB...Toone J	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	Coulter-Mackie MB...Wong SG	15802217	2005
7	Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. ⁵³ ⁶² ⁵	Rumsby G...Coulter-Mackie M	15327387	2004
8	Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. ⁵³ ⁶² ⁵	Yuen YP...Lam CW	15365967	2004
9	The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. ⁵³ ⁶² ⁵	Coulter-Mackie MB...Henderson H	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	Santana A...Shapiro LJ	12777626	2003
11	Primary hyperoxaluria: genotype-phenotype correlation. ⁵³ ⁶² ⁵	Pirulli D...Amoroso A	12768081	2003
12	AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. ⁵³ ⁶² ⁵	Amoroso A...Marangella M	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	Lumb MJ...Danpure CJ	10960483	2000
14	Identification of 5 novel mutations in the AGXT gene. ⁵³ ⁶² ⁵	Basmaison O...Bozon D	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	Pirulli D...Florian F	10453743	1999
16	Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. ⁵³ ⁶² ⁵	Purdue PE...Danpure CJ	1703535	1990
17	Clinical analysis of 13 children with primary hyperoxaluria type 1. ⁶² ⁵	Lin JA...Qiu J	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	Xu CB...Xue X	33691640	2021
19	Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. ⁶² ⁵	Zhao F...Ning C	32556641	2021
20	The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization. ⁶² ⁵	Dindo M...Cellini B	32792227	2020
21	The Ocular Phenotype in Primary Hyperoxaluria Type 1. ⁶² ⁵	Birtel J...Charbel Issa P	31078535	2019
22	A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population. ⁶² ⁵	Li X...Li Y	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	Du DF...Chen ZS	30341509	2018
24	Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. ⁶² ⁵	Krishnamurthy S...Giachino D	28904440	2017
25	Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. ⁶² ⁵	Mbarek IB...Bouslama A	28619084	2017
26	[Oliguria and acute renal dysfunction in a six-month-old infant]. ⁶² ⁵	Cui YJ...Cheng YB	28202121	2017
27	Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. ⁶² ⁵	Isiyel E...Ezgu FS	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	Dutta AK...Omprakash S	27512303	2016
29	Calcium oxalate crystalluria points to primary hyperoxaluria type 1. ⁶² ⁵	Poloni JA...Perazella MA	26759051	2016
30	Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. ⁶² ⁵	Hopp K...Rare Kidney Stone Consortium	25644115	2015
31	Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1. ⁶² ⁵	Chen GY...Zhou ST	26252291	2015
32	Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. ⁶² ⁵	Williams EL...Rumsby G	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	Mandrile G...OxalEurope Consortium	24988064	2014
34	S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation. ⁶² ⁵	Montioli R...Borri Voltattorni C	24990153	2014
35	Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. ⁶² ⁵	Takayama T...Ozono S	24116921	2014
36	Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. ⁶² ⁵	Li GM...An Y	24934730	2014
37	Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. ⁶² ⁵	Hoyer-Kuhn H...Hoppe B	24385516	2014
38	Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. ⁶² ⁵	Nagara M...Chemli J	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	van der Hoeven SM...Groothoff JW	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	Tammachote R...Shotelersuk V	22821680	2012
41	Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1. ⁶² ⁵	Fodor K...Wilmanns M	22529745	2012
42	Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. ⁶² ⁵	Fargue S...Cochat P	19571789	2009
43	Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. ⁶² ⁵	Coulter-Mackie MB...Lian Q	16971151	2006
44	Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. ⁶² ⁵	Coulter-Mackie MB...Rumsby G	15464418	2004
45	Clinical implications of mutation analysis in primary hyperoxaluria type 1. ⁶² ⁵	van Woerden CS...Waterham HR	15253729	2004
46	Diagnostic and clinical utility of genetic testing in children with kidney failure. ⁵	Chen J...Xu H	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	Capalbo A...Rodriguez JM	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	Cellini B...Voltattorni CB	20713123	2010
49	Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting. ⁵³ ⁶²	Djordjevic S...Danpure CJ	20208150	2010
50	Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1. ⁵³ ⁶²	Hoppe B	20150937	2010

Sources

Genes for Primary Hyperoxaluria

Genes related to Primary Hyperoxaluria (2 elite genes):

(show top 50) (show all 75)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AGXT	Alanine--Glyoxylate Aminotransferase	Protein Coding	486.29	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries (show sections)	1703535 10453743 10862087 (more) 10960483 11562405 12768081 12777626 15110324 15253729 15327387 15365967 15464418 15802217 15963748 16971151 17460142 17495019 18282470 19479957 19571789 20713123 22529745 22844106 23810941 24385516 24934730 24988064 24990153 25629080 26252291 27512303 27915025 28202121 28619084 30541997 31078535 32556641 34031707 22821680 25644115 26759051 28904440 30341509 31589614 32792227 33691640 33721035 8692789 16284878 18951670 19245173 18698135 1499137 2397596 1763934 10737993 10933316 8651256 15021200 16621644 11699734 1961759 7559790 17027096 16931222 9323564 9365788 1879825 9192270 12559847 12899834 7798168 10777549 7967498 2045108 18810341 16957746 18448374 12737622 11708860 11067824 8101040 1474773 1349575 20208150 14987413 16810517 11717523 20059472 19155213 9604801 8592623 20056599 15356974 10400689 9604804 8592621 8507692 9578076 9002528 8922378 8843467 8034295 2008900 20150937 19545238 11225057 9435987 9136629 2129359 18782763 12686111 11174030 9604803 15961945 15961951 15499210 17110443
2	GRHPR	Glyoxylate And Hydroxypyruvate Reductase	Protein Coding	447.57	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name (show sections)	24116921 18951670 19245173 (more) 15021200 14635115 19296982 17510093 16306119 18982322 11728965 15840574
3	H2AC18	H2A Clustered Histone 18	Protein Coding	15.54	DISEASES inferred ¹⁴ ¹⁴
4	HAO1	Hydroxyacid Oxidase 1	Protein Coding	13.05	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	KDM4C	Lysine Demethylase 4C	Protein Coding	12.32	DISEASES inferred ¹⁴ ¹⁴
6	PEX5	Peroxisomal Biogenesis Factor 5	Protein Coding	11.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	PRODH	Proline Dehydrogenase 1	Protein Coding	9.27	DISEASES inferred ¹⁴ ¹⁴
8	CBX1	Chromobox 1	Protein Coding	9.18	DISEASES inferred ¹⁴
9	CBX5	Chromobox 5	Protein Coding	9.09	DISEASES inferred ¹⁴
10	CBX3	Chromobox 3	Protein Coding	9.07	DISEASES inferred ¹⁴
11	SUV39H1	SUV39H1 Histone Lysine Methyltransferase	Protein Coding	9.02	DISEASES inferred ¹⁴
12	SPP1	Secreted Phosphoprotein 1	Protein Coding	9	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	14665375 19717825
13	H3-7	H3.7 Histone (Putative)	Protein Coding	8.93	DISEASES inferred ¹⁴
14	SETDB1	SET Domain Bifurcated Histone Lysine Methyltransferase 1	Protein Coding	8.66	DISEASES inferred ¹⁴
15	EHMT2	Euchromatic Histone Lysine Methyltransferase 2	Protein Coding	8.23	DISEASES inferred ¹⁴
16	TRIM28	Tripartite Motif Containing 28	Protein Coding	8	DISEASES inferred ¹⁴
17	HOGA1	4-Hydroxy-2-Oxoglutarate Aldolase 1	Protein Coding	7.97	DISEASES inferred ¹⁴
18	H2AC20	H2A Clustered Histone 20	Protein Coding	7.77	DISEASES inferred ¹⁴
19	H1-0	H1.0 Linker Histone	Protein Coding	7.75	DISEASES inferred ¹⁴
20	H2BC21	H2B Clustered Histone 21	Protein Coding	7.67	DISEASES inferred ¹⁴
21	H4C1	H4 Clustered Histone 1	Protein Coding	7.65	DISEASES inferred ¹⁴
22	H4C11	H4 Clustered Histone 11	Protein Coding	7.65	DISEASES inferred ¹⁴
23	H4C12	H4 Clustered Histone 12	Protein Coding	7.65	DISEASES inferred ¹⁴
24	H4C13	H4 Clustered Histone 13	Protein Coding	7.65	DISEASES inferred ¹⁴
25	H4C14	H4 Clustered Histone 14	Protein Coding	7.65	DISEASES inferred ¹⁴
26	H4C15	H4 Clustered Histone 15	Protein Coding	7.65	DISEASES inferred ¹⁴
27	H4C16	H4 Histone 16	Protein Coding	7.65	DISEASES inferred ¹⁴
28	H4C2	H4 Clustered Histone 2	Protein Coding	7.65	DISEASES inferred ¹⁴
29	H4C3	H4 Clustered Histone 3	Protein Coding	7.65	DISEASES inferred ¹⁴
30	H4C4	H4 Clustered Histone 4	Protein Coding	7.65	DISEASES inferred ¹⁴
31	H4C6	H4 Clustered Histone 6	Protein Coding	7.65	DISEASES inferred ¹⁴
32	H4C8	H4 Clustered Histone 8	Protein Coding	7.65	DISEASES inferred ¹⁴
33	H4C9	H4 Clustered Histone 9	Protein Coding	7.65	DISEASES inferred ¹⁴
34	H4C5	H4 Clustered Histone 5	Protein Coding	7.65	DISEASES inferred ¹⁴
35	LBR	Lamin B Receptor	Protein Coding	7.63	DISEASES inferred ¹⁴
36	SUV39H2	SUV39H2 Histone Lysine Methyltransferase	Protein Coding	7.53	DISEASES inferred ¹⁴
37	HDAC1	Histone Deacetylase 1	Protein Coding	7.52	DISEASES inferred ¹⁴
38	PIWIL4	Piwi Like RNA-Mediated Gene Silencing 4	Protein Coding	7.42	DISEASES inferred ¹⁴
39	PIWIL1	Piwi Like RNA-Mediated Gene Silencing 1	Protein Coding	7.41	DISEASES inferred ¹⁴
40	LCOR	Ligand Dependent Nuclear Receptor Corepressor	Protein Coding	7.36	DISEASES inferred ¹⁴ ¹⁴
41	TSPAN16	Tetraspanin 16	Protein Coding	7.29	DISEASES inferred ¹⁴
42	DNMT1	DNA Methyltransferase 1	Protein Coding	7.24	DISEASES inferred ¹⁴
43	H2AZ1	H2A.Z Variant Histone 1	Protein Coding	7.19	DISEASES inferred ¹⁴
44	CENPA	Centromere Protein A	Protein Coding	7.17	DISEASES inferred ¹⁴
45	ZNF23	Zinc Finger Protein 23	Protein Coding	7.15	DISEASES inferred ¹⁴ ¹⁴
46	MPHOSPH8	M-Phase Phosphoprotein 8	Protein Coding	7.12	DISEASES inferred ¹⁴
47	LMNB1	Lamin B1	Protein Coding	7.12	DISEASES inferred ¹⁴
48	CTCF	CCCTC-Binding Factor	Protein Coding	7.12	DISEASES inferred ¹⁴
49	DNMT3A	DNA Methyltransferase 3 Alpha	Protein Coding	7.12	DISEASES inferred ¹⁴
50	KMT5C	Lysine Methyltransferase 5C	Protein Coding	7.1	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Primary Hyperoxaluria

Search GEO for disease gene expression data for Primary Hyperoxaluria.

Sources

Pathways for Primary Hyperoxaluria

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

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	12.7	EHMT2 H2AC18 H2AC20 H2BC21 KDM4C SETDB1
2	Cellular Senescence ⁶⁶ Show member pathways Oxidative Stress Induced Senescence ⁶⁶ Senescence-Associated Secretory Phenotype (SASP) ⁶⁶	12.47	H2BC21 H2AC20 H2AC18 H1-0 EHMT2
3	HCMV Infection ⁶⁶ Show member pathways HCMV Early Events ⁶⁶ HCMV Late Events ⁶⁶	12.42	TRIM28 H2BC21 H2AC20 H2AC18 CBX1
4	Chromatin Regulation / Acetylation ³	11.91	TRIM28 SUV39H1 SETDB1 EHMT2 CBX5 CBX3
5	PKMTs methylate histone lysines ⁶⁶ Show member pathways Histone modifications ⁷⁴	11.77	SUV39H1 SETDB1 EHMT2
6	Glyoxylate metabolism and glycine degradation ⁶⁶ Show member pathways glycine biosynthesis ⁶¹ Glycine degradation ⁶⁶ lipoate salvage ⁶¹	11.14	HOGA1 HAO1 GRHPR AGXT
7	Transcriptional Regulation by E2F6 ⁶⁶	11.09	EHMT2 CBX5 CBX3
8	Effect of progerin on genes involved in Hutchinson-Gilford progeria syndrome ⁷⁴	11.02	SUV39H1 CBX5 CBX3 CBX1
9	4-hydroxyproline degradation ⁶¹ Show member pathways Glyoxylate metabolism ⁷⁴ L-proline degradation ⁶¹ Proline catabolism ⁶⁶ proline degradation ⁶¹ trans-4-hydroxy-L-proline degradation I ⁶¹	10.42	PRODH HOGA1 HAO1 GRHPR AGXT

Sources

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