MCID: PRM002
MIFTS: 68

Primary Hyperoxaluria malady

Genetic diseases, Nephrological diseases, Eye diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Primary Hyperoxaluria

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Sources:
8Disease Ontology, 64Wikipedia, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 32MedlinePlus, 61UMLS, 33MeSH, 56SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 8 21 10 48 61
Hyperoxaluria, Primary 64 20 21
Kidney Diseases 64 32 61
Kidney Failure 10 32 61
Oxalosis 64 21 61
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 64 21
D-Glycerate Dehydrogenase Deficiency 64 21
Hepatic Agt Deficiency 64 21
Hyperoxaluria Primary 44 22
Glycolic Aciduria 64 21
Glyceric Aciduria 64 21
 
Oxaluria, Primary 64 21
Hp1 64 21
Hp2 64 21
Primary Hyperoxaluria, Type I 61
Primary Hyperoxaluria Type 2 61
Abnormal Renal Function 61
Kidney Dysfunction 44
Renal Anomaly 44
Renal Failure 44
Renal Disease 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
primary hyperoxaluria:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

Disease Ontology8 DOID:2977
MeSH33 D006959
Orphanet48 416
MESH via Orphanet34 D006959
SNOMED-CT56 190766003, 17901006
ICD10 via Orphanet26 E74.8
UMLS via Orphanet62 C0020500

Summaries for Primary Hyperoxaluria

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MedlinePlus:32 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, and has symptoms including nephropathy, nephrolithiasis and abnormality of metabolism/homeostasis. 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 albumin human, usp and albumin,human inj 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:64 Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The... more...

Related Diseases for Primary Hyperoxaluria

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Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type Ii Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Primary, Type 1

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

(show top 50)    (show all 1199)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis31.4GRHPR, AGXT
2nephrolithiasis30.7AGXT, GRHPR
3chronic kidney failure30.6AGXT, GSR, EPO
4deficiency anemia30.3GPI, EPO, GSR
5malaria29.9GSR, HSPA8, HSP90AA1
6hepatitis b29.5HSP90AA1, HSPA8, GSR
7hiv-129.5GSR, HSP90AA1, GPI
8acute leukemia29.5HSP90AA1, HSPA8, EPO, GSR
9cystic kidney10.9
10d-glyceric aciduria10.8
11hepatitis10.7
12proteinuria10.6
13endotheliitis10.6
14hyperoxaluria, primary, type ii10.6
15hyperoxaluria, primary, type 110.6
16hyperparathyroidism10.5
17nephronophthisis10.5
18end stage renal failure10.5
19aneurysm10.5
20obesity10.5
21renal cell carcinoma10.5
22hyperphosphatemia10.5
23polycystic kidney disease 210.5
24hyperuricemia10.5
25medullary cystic kidney disease 110.4
26congenital hepatic fibrosis10.4
27familial juvenile hyperuricaemic nephropathy10.4
28disseminated intravascular coagulation10.4
29acute pyelonephritis10.4
30hyperoxaluria, primary, type iii10.4
31peritonitis10.4
32peroxisome disorders10.4PEX5, AGXT
33atherosclerosis10.4
34epilepsy, progressive myoclonic 4, with or without renal failure10.4
35polycystic kidney disease, adult type i10.4
36metabolic acidosis10.4
37bifid nose with or without anorectal and renal anomalies10.4
38medullary cystic kidney disease 210.4
39polycystic kidney and hepatic disease10.4
40gout10.4
41parathyroid carcinoma10.4
42tuberous sclerosis10.3
43polycystic kidney disease, autosomal dominant10.3
44thalassemia, hispanic gamma-delta-beta10.3GSR, EPO
45glomerulonephritis10.3
46vascular disease10.3
47hypothyroidism10.3
48polycystic liver disease10.3
49hepatitis c10.3
50renal osteodystrophy10.3

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



Diseases related to primary hyperoxaluria

Symptoms for Primary Hyperoxaluria

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Symptoms:

 48 (show all 10)
  • renal disease/nephropathy
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteosclerosis/osteopetrosis/bone condensation
  • cortical anomaly/thick bone cortical layer
  • metabolic anomalies
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • mutiple fractures/bone fragility
  • lack/delayed ossification of spine/vertebrae

HPO human phenotypes related to Primary Hyperoxaluria:

(show all 9)
id Description Frequency HPO Source Accession
1 nephropathy hallmark (90%) HP:0000112
2 nephrolithiasis hallmark (90%) HP:0000787
3 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
4 abnormal cortical bone morphology hallmark (90%) HP:0003103
5 short stature hallmark (90%) HP:0004322
6 reduced bone mineral density hallmark (90%) HP:0004349
7 increased bone mineral density hallmark (90%) HP:0011001
8 recurrent fractures typical (50%) HP:0002757
9 abnormal vertebral ossification occasional (7.5%) HP:0100569

Drugs & Therapeutics for Primary Hyperoxaluria

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Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria

Search NIH Clinical Center for Primary Hyperoxaluria

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Primary Hyperoxaluria

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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

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MalaCards organs/tissues related to Primary Hyperoxaluria:

31
Kidney, Liver, Bone, Eye, Bone marrow, Testes, Heart, Colon, Fetal liver

Animal Models for Primary Hyperoxaluria or affiliated genes

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MGI Mouse Phenotypes related to Primary Hyperoxaluria:

35
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

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Articles related to Primary Hyperoxaluria:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Liver and kidney transplant in primary hyperoxaluria: a single center experience. (25894144)
2015
2
Oxalate quantification in hemodialysate to assess dialysis adequacy for primary hyperoxaluria. (24776840)
2014
3
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter. (21163900)
2011
4
Primary hyperoxaluria type 1 in Tunisian children. (21308625)
2011
5
Primary hyperoxaluria involving the liver and hepatic artery: images of an aggressive disease. (20224594)
2010
6
Cardiac abnormalities in primary hyperoxaluria. (20921818)
2010
7
Spectral-domain optical coherence tomography visualisation of retinal oxalosis in primary hyperoxaluria. (19590520)
2010
8
Transplantation outcomes in primary hyperoxaluria. (20849551)
2010
9
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. (18282470)
2008
10
Correction of hyperoxaluria by liver repopulation with hepatocytes in a mouse model of primary hyperoxaluria type-1. (18475180)
2008
11
Combined liver-kidney transplantation and follow-up in primary hyperoxaluria treatment: report of three cases. (18261616)
2008
12
Primary hyperoxaluria. (17927001)
2007
13
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience. (16912707)
2006
14
Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor. (16904473)
2006
15
Calcium oxalate saturation in dialysis patients with and without primary hyperoxaluria. (16432691)
2006
16
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. (16597637)
2006
17
Primary hyperoxaluria type 1: still challenging! (16810517)
2006
18
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. (16955107)
2006
19
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
20
Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria. (15610227)
2005
21
Early renal failure after domino hepatic transplantation using the liver from a compound heterozygous patient with primary hyperoxaluria. (16077137)
2005
22
SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease. (15361574)
2004
23
Clinical implications of mutation analysis in primary hyperoxaluria type 1. (15253729)
2004
24
Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation. (15356974)
2004
25
Sequential liver-kidney transplantation from a living-related donor in primary hyperoxaluria type 1 (oxalosis). (12591446)
2003
26
Primary hyperoxaluria: a rare but important cause of nephrolithiasis. (12055367)
2002
27
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (11562405)
2001
28
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
29
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. (11502971)
2001
30
Genetic basis of primary hyperoxaluria type II. (11156703)
2000
31
Images in clinical medicine. Type I primary hyperoxaluria. (10607815)
1999
32
Unusual morphology of calcium oxalate calculi in primary hyperoxaluria. (9604812)
1998
33
Primary hyperoxaluria in an adult with renal failure, livedo reticularis, retinopathy, and peripheral neuropathy. (9186083)
1997
34
Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. (7604440)
1995
35
Primary hyperoxaluria type 2. (8592629)
1995
36
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1. (8592623)
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

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Clinvar genetic disease variations for Primary Hyperoxaluria:

5 (show all 25)
id Gene Variation 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
4HOGA1NM_138413.3(HOGA1): c.944_946delAGG (p.Glu315del)deletionPathogenicrs397509360GRCh37Chr 10, 99371376: 99371378
5HOGA1NM_138413.3(HOGA1): c.860G> T (p.Gly287Val)single nucleotide variantPathogenicrs138207257GRCh37Chr 10, 99371292: 99371292
6HOGA1NM_138413.3(HOGA1): c.289C> T (p.Arg97Cys)single nucleotide variantPathogenicrs267606762GRCh37Chr 10, 99358609: 99358609
7HOGA1HOGA1, IVS, G-T, +4single nucleotide variantPathogenic
8HOGA1NM_138413.3(HOGA1): c.209G> C (p.Arg70Pro)single nucleotide variantPathogenicrs267606763GRCh37Chr 10, 99344669: 99344669
9HOGA1NM_138413.3(HOGA1): c.769T> G (p.Cys257Gly)single nucleotide variantPathogenicrs267606764GRCh37Chr 10, 99361682: 99361682
10AGXTNM_000030.2(AGXT): c.1020A> G (p.Ile340Met)single nucleotide variantPathogenicrs4426527GRCh37Chr 2, 241817516: 241817516
11AGXTAGXT, 1-BP INS, 33CinsertionPathogenic
12AGXTNM_000030.2(AGXT): c.508G> A (p.Gly170Arg)single nucleotide variantPathogenicrs121908529GRCh37Chr 2, 241810850: 241810850
13GRHPRNM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs)deletionPathogenicrs80356708GRCh37Chr 9, 37424861: 37424861
14GRHPRNM_012203.1(GRHPR): c.295C> T (p.Arg99Ter)single nucleotide variantPathogenicrs119490108GRCh37Chr 9, 37426542: 37426542
15AGXTNM_000030.2(AGXT): c.613T> C (p.Ser205Pro)single nucleotide variantPathogenicrs121908520GRCh37Chr 2, 241813412: 241813412
16AGXTNM_000030.2(AGXT): c.32C> T (p.Pro11Leu)single nucleotide variantPathogenicrs34116584GRCh37Chr 2, 241808314: 241808314
17AGXTNM_000030.2(AGXT): c.198C> G (p.Tyr66Ter)single nucleotide variantPathogenicrs121908521GRCh37Chr 2, 241808619: 241808619
18AGXTNM_000030.2(AGXT): c.245G> A (p.Gly82Glu)single nucleotide variantPathogenicrs121908522GRCh37Chr 2, 241808666: 241808666
19AGXTNM_000030.2(AGXT): c.121G> A (p.Gly41Arg)single nucleotide variantPathogenicrs121908523GRCh37Chr 2, 241808403: 241808403
20AGXTNM_000030.2(AGXT): c.454T> A (p.Phe152Ile)single nucleotide variantPathogenicrs121908524GRCh37Chr 2, 241810796: 241810796
21AGXTNM_000030.2(AGXT): c.731T> C (p.Ile244Thr)single nucleotide variantPathogenicrs121908525GRCh37Chr 2, 241814576: 241814576
22AGXTNM_000030.2(AGXT): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs121908526GRCh37Chr 2, 241814542: 241814542
23AGXTNM_000030.2(AGXT): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
24AGXTNM_000030.2(AGXT): c.738G> A (p.Trp246Ter)single nucleotide variantPathogenicrs121908528GRCh37Chr 2, 241814583: 241814583
25AGXTNM_000030.2(AGXT): c.466G> A (p.Gly156Arg)single nucleotide variantPathogenicrs121908530GRCh37Chr 2, 241810808: 241810808

Expression for genes affiliated with Primary Hyperoxaluria

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Search GEO for disease gene expression data for Primary Hyperoxaluria.

Pathways for genes affiliated with Primary Hyperoxaluria

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9AGXT2, AGXT
2
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
9.6PRODH, DAO, HOGA1
3
Show member pathways
choline degradation I36
glycine biosynthesis III36
serine and glycine biosynthesis36
glycine betaine degradation36
glycine biosynthesis36
9.4DAO, GRHPR, AGXT, AGXT2
48.4AGXT, GRHPR, HOGA1, HAO1, HAO2
58.3HAO2, HAO1, DAO, PEX5, AGXT
6
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.2HAO1, DAO, PRODH, GRHPR, AGXT, AGXT2
7
Show member pathways
6.2GPI, DAO, HAO1, HAO2, HSP90AA1, PRODH

Compounds for genes affiliated with Primary Hyperoxaluria

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

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1Hydroxypyruvic acid2410.5GRHPR, AGXT
2glyoxylate4410.5AGXT, GRHPR
3fenton4410.3GSR, EPO
4zinc protoporphyrin4410.3EPO, DAO
5oxalate4410.2AGXT, GRHPR, SLC26A1
64-Hydroxy-L-proline2410.2DAO, PRODH
7vitamin b64410.2AGXT, EPO, GSR
8fructose-1,6-bisphosphate4410.1GPI, GSR
9riboflavin44 24 1112.1DAO, GSR
10acyl-coa4410.1DAO, PEX5, AGXT
11l-alanine60 28 24 1113.1AGXT, AGXT2
12glycine28 24 1112.1DAO, AGXT, AGXT2
13Pyruvic acid24 1111.0AGXT, AGXT2, DAO
146-phosphogluconate449.9GSR, GPI
15phenylbutyrate449.9GSR, HSPA8, EPO
16thiamine44 1 24 1112.9EPO, GSR
17novobiocin44 1110.9HSPA8, HSP90AA1
18mitomycin c449.8HSPA8, GSR, EPO
19FAD249.8DAO, PRODH, GSR
20cysteamine44 24 1111.7HAO1, GSR
21polyglycolic acid449.7GRHPR, AGXT, HAO1
22sodium arsenite449.7GSR, HSP90AA1, HSPA8
234-hydroxynonenal44 2410.6GSR, HSPA8, HSP90AA1
24n-ethylmaleimide44 1110.6HSPA8, HSP90AA1, GSR
25sulfate44 2410.6SLC26A1, GPI, SLC13A1
26quercetin44 60 24 1112.6HSPA8, GSR, HSP90AA1
27flavin-adenine dinucleotide44 1110.5GSR, HAO1, DAO
28flavin449.5GSR, DAO, HAO1
29imatinib44 50 1111.5HSP90AA1, HSPA8, EPO
30radicicol44 60 1111.5HSPA8, HSP90AA1
31arsenite44 2410.5GSR, HSP90AA1, HSPA8
32creatinine449.3EPO, GSR, HSPA8, GPI
33cisplatin44 50 60 1112.3GSR, HSP90AA1, EPO, HSPA8
34Glycolic acid249.3HAO2, HAO1, GRHPR
35glyceraldehyde 3-phosphate449.3GSR, GPI, HSP90AA1, HSPA8
36carbon449.2HAO1, DAO, GPI
37Hydrogen peroxide249.2DAO, HAO1, HAO2
38vitamin d449.1SLC13A1, EPO, HSPA8, HSP90AA1
39alanine449.1GSR, AGXT, HSPA8, HSP90AA1, DAO
40l-amino acid449.1HAO1, DAO
41flavin mononucleotide44 2410.0HAO1, HAO2
42adenylate448.9HSP90AA1, HSPA8, GSR, GPI
43aspartate448.7AGXT, GPI, EPO, GSR, DAO, HAO1
44polyacrylamide448.7HAO1, GPI, HSP90AA1, HSPA8
45h2o2448.5HSP90AA1, DAO, HAO1, GSR, HSPA8
46cysteine448.5HAO1, GSR, HSP90AA1, AGXT, HSPA8
47Glyoxylic acid248.4HAO2, HAO1, DAO, GRHPR, AGXT2, AGXT
48oxygen44 249.1EPO, HAO2, HAO1, DAO, HSPA8, GSR
49lactate447.9GSR, HAO1, EPO, DAO, HSP90AA1, HSPA8
50glutamate447.6PRODH, HSP90AA1, AGXT, GSR, HSPA8, HAO1

GO Terms for genes affiliated with Primary Hyperoxaluria

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.2PRODH, GSR, AGXT, AGXT2
2peroxisomal matrixGO:00057828.8AGXT, GRHPR, PEX5, DAO, HAO1
3mitochondrionGO:00057398.6AGXT2, HSP90AA1, PEX5, HOGA1, HAO2
4peroxisomeGO:00057778.3HAO2, HAO1, DAO, PEX5, AGXT
5cytosolGO:00058297.8DAO, PEX5, GPI, HSP90AA1, HSPA8, GSR

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1oxalic acid secretionGO:004672410.2AGXT, SLC26A6
2glycine biosynthetic process, by transamination of glyoxylateGO:001926510.2AGXT2, AGXT
3pyruvate biosynthetic processGO:004286610.2HOGA1, AGXT
44-hydroxyproline catabolic processGO:001947010.1PRODH, HOGA1
5oxalate transportGO:001953210.0SLC26A1, SLC26A6
6proline catabolic processGO:000656210.0DAO, PRODH
7glyoxylate catabolic processGO:000943610.0HOGA1, AGXT, AGXT2
8sulfate transmembrane transportGO:0190235810.0SLC26A1, SLC26A6
9protein targeting to peroxisomeGO:00066259.9PEX5, AGXT
10sulfate transportGO:00082729.9SLC26A6, SLC26A1
11chloride transportGO:00068219.9SLC26A1, SLC26A6
12positive regulation of nitric oxide biosynthetic processGO:00454299.4AGXT2, HSP90AA1
13glyoxylate metabolic processGO:00464878.7AGXT2, HAO1, HOGA1, DAO, GRHPR, AGXT
14cellular nitrogen compound metabolic processGO:00346418.5HAO1, DAO, PRODH, GRHPR, AGXT, AGXT2
15small molecule metabolic processGO:00442817.1HAO1, DAO, GPI, HSP90AA1, PRODH, GSR

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1alanine-glyoxylate transaminase activityGO:000845310.2AGXT, AGXT2
2oxalate transmembrane transporter activityGO:001953110.1SLC26A6, SLC26A1
3chloride transmembrane transporter activityGO:001510810.1SLC26A1, SLC26A6
4secondary active sulfate transmembrane transporter activityGO:000827110.0SLC26A1, SLC26A6
5anion:anion antiporter activityGO:001530110.0SLC26A1, SLC26A6
6sulfate transmembrane transporter activityGO:00151169.9SLC26A10, SLC26A1, SLC26A6
7FAD bindingGO:00719499.9PRODH, DAO
8amino acid bindingGO:00165979.6AGXT, PRODH
9MHC class II protein complex bindingGO:00230269.5HSP90AA1, HSPA8
10protein homodimerization activityGO:00428039.4AGXT, GRHPR, HSP90AA1, HOGA1
11medium-chain-(S)-2-hydroxy-acid oxidase activityGO:00528549.3HAO2, HAO1
12long-chain-(S)-2-hydroxy-long-chain-acid oxidase activityGO:00528539.3HAO2, HAO1
13very-long-chain-(S)-2-hydroxy-acid oxidase activityGO:00528529.3HAO2, HAO1
14(S)-2-hydroxy-acid oxidase activityGO:00039739.3HAO2, HAO1
15FMN bindingGO:00101818.9HAO1, HAO2
16receptor bindingGO:00051028.7HAO2, HAO1, DAO, AGXT

Sources for Primary Hyperoxaluria

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet