HP1
MCID: PRM002
MIFTS: 74

Primary Hyperoxaluria (HP1) malady

Genetic diseases, Nephrological diseases, Metabolic diseases, Rare diseases, Eye diseases categories
Download this MalaCard

Summaries for Primary Hyperoxaluria

About this section


Fully expand this MalaCard
MedlinePlus:33 Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. they also make hormones that keep your bones strong and your blood healthy. but if the kidneys are damaged, they don't work properly. harmful wastes can build up in your body. your blood pressure may rise. your body may retain excess fluid and not make enough red blood cells. this is called kidney failure. if your kidneys fail, you need treatment to replace the work they normally do. the treatment options are dialysis or a kidney transplant. each treatment has benefits and drawbacks. no matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. but with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. nih: national institute of diabetes and digestive and kidney diseases

MalaCards based summary: Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to nephrocalcinosis and nephrolithiasis. An important gene associated with Primary Hyperoxaluria is AGXT (alanine-glyoxylate aminotransferase), and among its related pathways are Alanine, aspartate and glutamate metabolism and Arginine and proline metabolism. The drugs dopamine and dopamine hydrochloride and the compounds Hydroxypyruvic acid and glyoxylate have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Genetics Home Reference:21 Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs.

Wikipedia:65 Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The... more...

Descriptions from OMIM:46 613616,260000

Aliases & Classifications for Primary Hyperoxaluria

About this section

Primary Hyperoxaluria, Aliases & Descriptions:

Name: Primary Hyperoxaluria 8 21 10
Hyperoxaluria, Primary 65 20 22 21 62
Kidney Diseases 65 33 62
Kidney Failure 10 33 62
Oxalosis 65 21 62
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 65 21
D-Glycerate Dehydrogenase Deficiency 65 21
Hepatic Agt Deficiency 65 21
Glyceric Aciduria 65 21
Oxaluria, Primary 65 21
Glycolic Aciduria 65 21
 
Kidney Disease 10 62
Hp2 65 21
Hp1 65 21
Primary Hyperoxaluria, Type I 62
Primary Hyperoxaluria Type 2 62
Abnormal Renal Function 62
Hyperoxaluria Primary 44
Kidney Dysfunction 44
Renal Anomaly 44
Renal Disease 44
Renal Failure 44


Classifications:



External Ids:

Disease Ontology8 DOID:2977
MeSH34 D006959
SNOMED-CT57 17901006, 190766003

Related Diseases for Primary Hyperoxaluria

About this section

Diseases in the Primary Hyperoxaluria Type 1 family:

primary hyperoxaluria Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3

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

(show top 50)    (show all 1235)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis31.4GRHPR, AGXT
2nephrolithiasis30.7AGXT, GRHPR
3chronic kidney failure30.6AGXT, GSR, EPO
4beta thalassemia30.3GSR, EPO
5deficiency anemia30.3GPI, EPO, GSR
6malaria29.9GSR, HSPA8, HSP90AA1
7chronic myeloid leukemia29.6EPO, HSPA8, HSP90AA1
8hepatitis b29.5HSP90AA1, HSPA8, GSR
9acute leukemia29.5HSP90AA1, HSPA8, EPO, GSR
10primary hyperoxaluria type 111.2
11cystic kidney10.9
12primary hyperoxaluria type 210.9
13d-glyceric aciduria10.8
14hypertension10.7
15hepatitis10.7
16proteinuria10.6
17endotheliitis10.6
18insulin resistance10.5
19primary hyperoxaluria type 310.5
20hyperparathyroidism10.5
21medullary cystic kidney disease type 110.5
22renal hypouricemia10.5
23end stage renal failure10.5
24diabetes mellitus10.5
25nephronophthisis10.5
26obesity10.5
27familial juvenile hyperuricaemic nephropathy10.5
28renal cell carcinoma10.5
29aneurysm10.5
30hyperphosphatemia10.5
31hyperuricemia10.4
32congenital hepatic fibrosis10.4
33disseminated intravascular coagulation10.4
34peroxisome disorders10.4PEX5, AGXT
35peritonitis10.4
36polycystic kidney disease, autosomal dominant10.4
37polycystic kidney disease, type 110.4
38polycystic kidney disease, type 210.4
39acute pyelonephritis10.4
40atherosclerosis10.4
41frasier syndrome10.4
42parathyroid carcinoma10.4
43metabolic acidosis10.3
44polycystic kidney disease, autosomal recessive10.3
45umod-associated kidney disease10.3
46bifid nose with or without anorectal and renal anomalies10.3
47tuberous sclerosis10.3
48hypothyroidism10.3
49gout10.3
50vascular disease10.3

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



Diseases related to primary hyperoxaluria

Symptoms for Primary Hyperoxaluria

About this section


Clinical features from OMIM:

613616,260000

Drugs & Therapeutics for Primary Hyperoxaluria

About this section

Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria

Search NIH Clinical Center for Primary Hyperoxaluria

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Primary Hyperoxaluria

About this section

Genetic tests related to Primary Hyperoxaluria:

id Genetic test Affiliating Genes
1 Hyperoxaluria, Primary, Multi-Gene Panels20
2 Hyperoxaluria, Primary20 HOGA1
3 Primary Hyperoxaluria22

Anatomical Context for Primary Hyperoxaluria

About this section

MalaCards organs/tissues related to Primary Hyperoxaluria:

32
Kidney, Liver, Bone, Bone marrow, Testes, Heart, Colon, Fetal liver

Animal Models for Primary Hyperoxaluria or affiliated genes

About this section

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8SLC13A1, SLC26A1, EPO, GPI, PEX5
2MP:00053678.4PEX5, GRHPR, SLC26A6, SLC26A1, SLC13A1, AGXT
3MP:00053767.3AGXT, DAO, PEX5, GPI, EPO, PRODH

Publications for Primary Hyperoxaluria

About this section

Articles related to Primary Hyperoxaluria:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Oxalate quantification in hemodialysate to assess dialysis adequacy for primary hyperoxaluria. (24776840)
2014
2
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter. (21163900)
2011
3
Primary hyperoxaluria type 1 in Tunisian children. (21308625)
2011
4
Primary hyperoxaluria involving the liver and hepatic artery: images of an aggressive disease. (20224594)
2010
5
Cardiac abnormalities in primary hyperoxaluria. (20921818)
2010
6
Spectral-domain optical coherence tomography visualisation of retinal oxalosis in primary hyperoxaluria. (19590520)
2010
7
Transplantation outcomes in primary hyperoxaluria. (20849551)
2010
8
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. (18282470)
2008
9
Correction of hyperoxaluria by liver repopulation with hepatocytes in a mouse model of primary hyperoxaluria type-1. (18475180)
2008
10
Combined liver-kidney transplantation and follow-up in primary hyperoxaluria treatment: report of three cases. (18261616)
2008
11
Primary hyperoxaluria. (17927001)
2007
12
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience. (16912707)
2006
13
Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor. (16904473)
2006
14
Calcium oxalate saturation in dialysis patients with and without primary hyperoxaluria. (16432691)
2006
15
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. (16597637)
2006
16
Primary hyperoxaluria type 1: still challenging! (16810517)
2006
17
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. (16955107)
2006
18
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
19
Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria. (15610227)
2005
20
Early renal failure after domino hepatic transplantation using the liver from a compound heterozygous patient with primary hyperoxaluria. (16077137)
2005
21
SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease. (15361574)
2004
22
Clinical implications of mutation analysis in primary hyperoxaluria type 1. (15253729)
2004
23
Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation. (15356974)
2004
24
Sequential liver-kidney transplantation from a living-related donor in primary hyperoxaluria type 1 (oxalosis). (12591446)
2003
25
Primary hyperoxaluria: a rare but important cause of nephrolithiasis. (12055367)
2002
26
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (11562405)
2001
27
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. (11728965)
2001
28
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. (11502971)
2001
29
Genetic basis of primary hyperoxaluria type II. (11156703)
2000
30
Current approaches to the management of primary hyperoxaluria. (10833178)
2000
31
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. (10933316)
2000
32
Images in clinical medicine. Type I primary hyperoxaluria. (10607815)
1999
33
Unusual morphology of calcium oxalate calculi in primary hyperoxaluria. (9604812)
1998
34
Primary hyperoxaluria in an adult with renal failure, livedo reticularis, retinopathy, and peripheral neuropathy. (9186083)
1997
35
Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. (7604440)
1995
36
Primary hyperoxaluria type 2. (8592629)
1995
37
Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I. (8747487)
1995
38
Resistance to recombinant human erythropoietin therapy in a child with renal failure due to primary hyperoxaluria type 1. (7870357)
1994
39
Long-term prognosis in primary hyperoxaluria type II (L-glyceric aciduria). (8311084)
1994
40
Glycolate determination detects type I primary hyperoxaluria in dialysis patients. (2002628)
1991
41
Combined hepatic and renal transplantation in primary hyperoxaluria type I: clinical report of nine cases. (1996585)
1991
42
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. (1879825)
1991
43
Long term survival on haemodialysis in primary hyperoxaluria. (2401579)
1990
44
Renal histology for the diagnosis of primary hyperoxaluria in patients with end-stage renal disease. (2674746)
1989
45
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. (2925788)
1989
46
Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. (3418107)
1988
47
Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria. (3422018)
1988
48
Type I primary hyperoxaluria associated with type I renal tubular acidosis. (3449474)
1987
49
Pyridoxine in primary hyperoxaluria type I. (2876181)
1986
50
Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I. (3009079)
1986

Variations for Primary Hyperoxaluria

About this section

Clinvar genetic disease variations for Primary Hyperoxaluria:

6 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1AGXTNM_000030.2(AGXT): c.33dupC (p.Lys12Glnfs)duplicationPathogenicrs398122322GRCh37Chr 2, 241808315: 241808315
2AGXTNM_000030.2(AGXT): c.560C> T (p.Ser187Phe)single nucleotide variantPathogenicrs180177238GRCh37Chr 2, 241812431: 241812431
3GRHPRNM_012203.1: c.403_405+2delAAGTdeletionPathogenicrs180177309GRCh37Chr 9, 37426650: 37428483
4AGXTNM_000030.2(AGXT): c.1020A> G (p.Ile340Met)single nucleotide variantPathogenicrs4426527GRCh37Chr 2, 241817516: 241817516
5AGXTNM_000030.2(AGXT): c.508G> A (p.Gly170Arg)single nucleotide variantPathogenicrs121908529GRCh37Chr 2, 241810850: 241810850
6GRHPRNM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs)deletionPathogenicrs80356708GRCh37Chr 9, 37424861: 37424861
7GRHPRNM_012203.1(GRHPR): c.295C> T (p.Arg99Ter)single nucleotide variantPathogenicrs119490108GRCh37Chr 9, 37426542: 37426542
8AGXTNM_000030.2(AGXT): c.613T> C (p.Ser205Pro)single nucleotide variantPathogenicrs121908520GRCh37Chr 2, 241813412: 241813412
9AGXTNM_000030.2(AGXT): c.32C> T (p.Pro11Leu)single nucleotide variantPathogenicrs34116584GRCh37Chr 2, 241808314: 241808314
10AGXTNM_000030.2(AGXT): c.198C> G (p.Tyr66Ter)single nucleotide variantPathogenicrs121908521GRCh37Chr 2, 241808619: 241808619
11AGXTNM_000030.2(AGXT): c.245G> A (p.Gly82Glu)single nucleotide variantPathogenicrs121908522GRCh37Chr 2, 241808666: 241808666
12AGXTNM_000030.2(AGXT): c.121G> A (p.Gly41Arg)single nucleotide variantPathogenicrs121908523GRCh37Chr 2, 241808403: 241808403
13AGXTNM_000030.2(AGXT): c.454T> A (p.Phe152Ile)single nucleotide variantPathogenicrs121908524GRCh37Chr 2, 241810796: 241810796
14AGXTNM_000030.2(AGXT): c.731T> C (p.Ile244Thr)single nucleotide variantPathogenicrs121908525GRCh37Chr 2, 241814576: 241814576
15AGXTNM_000030.2(AGXT): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs121908526GRCh37Chr 2, 241814542: 241814542
16AGXTNM_000030.2(AGXT): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
17AGXTNM_000030.2(AGXT): c.738G> A (p.Trp246Ter)single nucleotide variantPathogenicrs121908528GRCh37Chr 2, 241814583: 241814583
18AGXTNM_000030.2(AGXT): c.466G> A (p.Gly156Arg)single nucleotide variantPathogenicrs121908530GRCh37Chr 2, 241810808: 241810808

Expression for genes affiliated with Primary Hyperoxaluria

About this section
Expression patterns in normal tissues for genes affiliated with Primary Hyperoxaluria

Search GEO for disease gene expression data for Primary Hyperoxaluria.

Pathways for genes affiliated with Primary Hyperoxaluria

About this section

Pathways related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9AGXT, AGXT2
2
Show member pathways
citrulline-nitric oxide cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
9.6DAO, PRODH, HOGA1
3
Show member pathways
choline degradation I37
glycine biosynthesis III37
serine and glycine biosynthesis37
glycine betaine degradation37
glycine biosynthesis37
9.4AGXT2, DAO, GRHPR, AGXT
48.4HOGA1, HAO2, GRHPR, AGXT, HAO1
58.3DAO, HAO1, AGXT, HAO2, PEX5
6
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.2DAO, PRODH, GRHPR, HAO1, AGXT, AGXT2
7
Show member pathways
6.2SLC26A1, HSP90AA1, PRODH, GSR, HAO2, HAO1

Compounds for genes affiliated with Primary Hyperoxaluria

About this section

Compounds related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1Hydroxypyruvic acid2410.5GRHPR, AGXT
2glyoxylate4410.5AGXT, GRHPR
3fenton4410.3EPO, GSR
4zinc protoporphyrin4410.3DAO, EPO
5oxalate4410.2AGXT, SLC26A1, GRHPR
64-Hydroxy-L-proline2410.2DAO, PRODH
7vitamin b64410.2EPO, GSR, AGXT
8fructose-1,6-bisphosphate4410.2GPI, GSR
9riboflavin44 24 1112.1GSR, DAO
10acyl-coa4410.1DAO, PEX5, AGXT
11l-alanine61 28 24 1113.1AGXT2, AGXT
12glycine28 24 1112.1DAO, AGXT, AGXT2
13Pyruvic acid24 1111.0DAO, AGXT, AGXT2
146-phosphogluconate449.9GSR, GPI
15phenylbutyrate449.9GSR, EPO, HSPA8
16thiamine44 2 24 1112.9EPO, GSR
17novobiocin44 1110.9HSP90AA1, HSPA8
18mitomycin c449.8GSR, EPO, HSPA8
19FAD249.8GSR, PRODH, DAO
20cysteamine44 24 1111.7GSR, HAO1
21polyglycolic acid449.7HAO1, GRHPR, AGXT
22sodium arsenite449.7HSP90AA1, HSPA8, GSR
234-hydroxynonenal44 2410.6HSP90AA1, HSPA8, GSR
24n-ethylmaleimide44 1110.6GSR, HSPA8, HSP90AA1
25sulfate44 2410.6SLC13A1, SLC26A1, GPI
26quercetin44 61 24 1112.6GSR, HSPA8, HSP90AA1
27flavin-adenine dinucleotide44 1110.5HAO1, DAO, GSR
28flavin449.5GSR, DAO, HAO1
29imatinib44 50 1111.5HSP90AA1, HSPA8, EPO
30radicicol44 61 1111.5HSPA8, HSP90AA1
31arsenite44 2410.5HSP90AA1, HSPA8, GSR
32creatinine449.3GPI, HSPA8, EPO, GSR
33cisplatin44 50 61 1112.3HSP90AA1, HSPA8, EPO, GSR
34Glycolic acid249.3HAO2, HAO1, GRHPR
35glyceraldehyde 3-phosphate449.3GSR, HSPA8, HSP90AA1, GPI
36carbon449.2HAO1, DAO, GPI
37Hydrogen peroxide249.2HAO2, HAO1, DAO
38vitamin d449.1SLC13A1, EPO, HSPA8, HSP90AA1
39alanine449.1AGXT, GSR, HSPA8, HSP90AA1, DAO
40l-amino acid449.1DAO, HAO1
41flavin mononucleotide44 2410.0HAO1, HAO2
42adenylate448.9GPI, HSP90AA1, HSPA8, GSR
43aspartate448.7HAO1, DAO, GPI, EPO, GSR, AGXT
44polyacrylamide448.7HSPA8, HSP90AA1, GPI, HAO1
45h2o2448.5HAO1, DAO, HSP90AA1, HSPA8, GSR
46cysteine448.5HAO1, HSP90AA1, HSPA8, GSR, AGXT
47Glyoxylic acid248.4AGXT2, AGXT, GRHPR, DAO, HAO1, HAO2
48oxygen44 249.1HAO2, HAO1, DAO, HSPA8, EPO, GSR
49lactate447.9HAO1, DAO, GPI, HSP90AA1, HSPA8, EPO
50glutamate447.6HAO1, DAO, GPI, HSP90AA1, HSPA8, PRODH

GO Terms for genes affiliated with Primary Hyperoxaluria

About this section

Cellular components related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.2PRODH, GSR, AGXT, AGXT2
2peroxisomal matrixGO:0057828.8AGXT, GRHPR, PEX5, DAO, HAO1
3mitochondrionGO:0057398.6AGXT2, HSP90AA1, PEX5, HOGA1, HAO2
4peroxisomeGO:0057778.3HAO2, HAO1, DAO, PEX5, AGXT
5cytosolGO:0058297.8DAO, PEX5, GPI, HSP90AA1, HSPA8, GSR

Biological processes related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1oxalic acid secretionGO:04672410.2AGXT, SLC26A6
2glycine biosynthetic process, by transamination of glyoxylateGO:01926510.2AGXT2, AGXT
3pyruvate biosynthetic processGO:04286610.2HOGA1, AGXT
44-hydroxyproline catabolic processGO:01947010.1PRODH, HOGA1
5oxalate transportGO:01953210.0SLC26A1, SLC26A6
6proline catabolic processGO:00656210.0DAO, PRODH
7glyoxylate catabolic processGO:00943610.0HOGA1, AGXT, AGXT2
8sulfate transmembrane transportGO:190235810.0SLC26A1, SLC26A6
9protein targeting to peroxisomeGO:0066259.9PEX5, AGXT
10sulfate transportGO:0082729.9SLC26A6, SLC26A1
11chloride transportGO:0068219.9SLC26A1, SLC26A6
12positive regulation of nitric oxide biosynthetic processGO:0454299.4AGXT2, HSP90AA1
13glyoxylate metabolic processGO:0464878.7AGXT2, HAO1, HOGA1, DAO, GRHPR, AGXT
14cellular nitrogen compound metabolic processGO:0346418.5HAO1, DAO, PRODH, GRHPR, AGXT, AGXT2
15small molecule metabolic processGO:0442817.1HAO1, DAO, GPI, HSP90AA1, PRODH, GSR

Molecular functions related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1alanine-glyoxylate transaminase activityGO:00845310.2AGXT, AGXT2
2oxalate transmembrane transporter activityGO:01953110.1SLC26A6, SLC26A1
3chloride transmembrane transporter activityGO:01510810.1SLC26A1, SLC26A6
4secondary active sulfate transmembrane transporter activityGO:00827110.0SLC26A1, SLC26A6
5anion:anion antiporter activityGO:01530110.0SLC26A1, SLC26A6
6sulfate transmembrane transporter activityGO:0151169.9SLC26A10, SLC26A1, SLC26A6
7FAD bindingGO:0719499.9PRODH, DAO
8amino acid bindingGO:0165979.6AGXT, PRODH
9MHC class II protein complex bindingGO:0230269.5HSP90AA1, HSPA8
10protein homodimerization activityGO:0428039.4AGXT, GRHPR, HSP90AA1, HOGA1
11medium-chain-(S)-2-hydroxy-acid oxidase activityGO:0528549.3HAO2, HAO1
12long-chain-(S)-2-hydroxy-long-chain-acid oxidase activityGO:0528539.3HAO2, HAO1
13very-long-chain-(S)-2-hydroxy-acid oxidase activityGO:0528529.3HAO2, HAO1
14(S)-2-hydroxy-acid oxidase activityGO:0039739.3HAO2, HAO1
15FMN bindingGO:0101818.9HAO1, HAO2
16receptor bindingGO:0051028.7HAO2, HAO1, DAO, AGXT

Products for genes affiliated with Primary Hyperoxaluria

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Primary Hyperoxaluria

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet