HP1
MCID: PRM002
MIFTS: 72

Primary Hyperoxaluria (HP1) malady

Genetic diseases, Nephrological diseases, Rare diseases, Eye diseases categories
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Summaries for Primary Hyperoxaluria

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Sources:
21Genetics Home Reference, 34MedlinePlus, 65Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 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: Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to nephrocalcinosis and chronic kidney failure. 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...

Description from OMIM:47 260000,259900,613616

Aliases & Classifications for Primary Hyperoxaluria

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 22GTR, 45Novoseek, 62UMLS, 65Wikipedia, 20GeneTests, 34MedlinePlus, 58SNOMED-CT, 35MeSH, 47OMIM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Eye diseases


Aliases & Descriptions:

primary hyperoxaluria 8 21 10
hyperoxaluria, primary 65 20 22 21 62
hyperoxaluria 8 22 45 62
kidney diseases 65 34 62
kidney failure 10 34 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
hp2 65 21
hp1 65 21
primary hyperoxaluria, type i 62
primary hyperoxaluria type 2 62
abnormal renal function 62
hyperoxaluria primary 45
kidney dysfunction 45
kidney disease 10
renal disease 45
renal anomaly 45
renal failure 45


External Ids:

Disease Ontology8 DOID:2977
MeSH35 D006959
SNOMED-CT58 17901006, 190766003

Related Diseases for Primary Hyperoxaluria

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17GeneCards, 18GeneDecks
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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 1220)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis30.9AGXT, GRHPR
2chronic kidney failure30.4AGXT, GSR, EPO
3deficiency anemia30.3GSR, GPI, EPO
4malaria30.0GSR, HSPA8, HSP90AA1
5peroxisome disorders30.0AGXT, PEX5
6zellweger syndrome30.0PEX5, DAO
7nephrolithiasis30.0SLC26A1, SLC26A6, AGXT, HAO2, HAO1, GRHPR
8beta thalassemia29.9GSR, EPO
9hepatitis b29.8GSR, HSP90AA1, HSPA8
10chronic myeloid leukemia29.7HSP90AA1, HSPA8, EPO
11acute leukemia29.7HSP90AA1, EPO, GSR, HSPA8
12primary hyperoxaluria type 111.2
13cystic kidney10.9
14primary hyperoxaluria type 210.8
15d-glyceric aciduria10.8
16hypertension10.7
17acute kidney failure10.7
18hepatitis10.7
19proteinuria10.6
20endotheliitis10.5
21insulin resistance10.5
22renal hypouricemia10.5
23end stage renal failure10.5
24primary hyperoxaluria type 310.5
25hyperparathyroidism10.5
26medullary cystic kidney disease type 110.5
27nephronophthisis10.5
28diabetes mellitus10.5
29aneurysm10.5
30renal cell carcinoma10.4
31congenital hepatic fibrosis10.4
32hyperphosphatemia10.4
33disseminated intravascular coagulation10.4
34familial juvenile hyperuricaemic nephropathy10.4
35acute pyelonephritis10.4
36hyperuricemia10.4
37peritonitis10.4
38polycystic kidney disease, type 110.4
39polycystic kidney disease, type 210.4
40polycystic kidney disease, autosomal dominant10.4
41parathyroid carcinoma10.3
42atherosclerosis10.3
43polycystic kidney disease, autosomal recessive10.3
44umod-associated kidney disease10.3
45frasier syndrome10.3
46bifid nose with or without anorectal and renal anomalies10.3
47hypothyroidism10.3
48hyperuricemia, pulmonary hypertension, renal failure, and alkalosis10.3
49tuberous sclerosis10.3
50periodontitis10.3

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



Diseases related to primary hyperoxaluria

Symptoms for Primary Hyperoxaluria

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47OMIM
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Clinical features from OMIM:

260000,259900,613616

Drugs & Therapeutics for Primary Hyperoxaluria

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria

Search NIH Clinical Center for Primary Hyperoxaluria

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Primary Hyperoxaluria

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20GeneTests, 22GTR
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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
4 Hyperoxaluria22

Anatomical Context for Primary Hyperoxaluria

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33MalaCards
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MalaCards organs/tissues related to Primary Hyperoxaluria:

33
Kidney, Liver, Bone, Testes, Bone marrow, Heart, Colon, Fetal liver

Animal Models for Primary Hyperoxaluria or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Primary Hyperoxaluria:

37
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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52PubMed
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Articles related to Primary Hyperoxaluria:

(show top 50)    (show all 493)
idTitleAuthorsYear
1
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter. (21163900)
2011
2
Primary hyperoxaluria type 1 in Tunisian children. (21308625)
2011
3
Primary hyperoxaluria involving the liver and hepatic artery: images of an aggressive disease. (20224594)
2010
4
Cardiac abnormalities in primary hyperoxaluria. (20921818)
2010
5
Spectral-domain optical coherence tomography visualisation of retinal oxalosis in primary hyperoxaluria. (19590520)
2010
6
Transplantation outcomes in primary hyperoxaluria. (20849551)
2010
7
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. (18282470)
2008
8
Correction of hyperoxaluria by liver repopulation with hepatocytes in a mouse model of primary hyperoxaluria type-1. (18475180)
2008
9
Combined liver-kidney transplantation and follow-up in primary hyperoxaluria treatment: report of three cases. (18261616)
2008
10
Primary hyperoxaluria. (17927001)
2007
11
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience. (16912707)
2006
12
Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor. (16904473)
2006
13
Calcium oxalate saturation in dialysis patients with and without primary hyperoxaluria. (16432691)
2006
14
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. (16597637)
2006
15
Primary hyperoxaluria type 1: still challenging! (16810517)
2006
16
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. (16955107)
2006
17
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
18
Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria. (15610227)
2005
19
Early renal failure after domino hepatic transplantation using the liver from a compound heterozygous patient with primary hyperoxaluria. (16077137)
2005
20
SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease. (15361574)
2004
21
Clinical implications of mutation analysis in primary hyperoxaluria type 1. (15253729)
2004
22
Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation. (15356974)
2004
23
Sequential liver-kidney transplantation from a living-related donor in primary hyperoxaluria type 1 (oxalosis). (12591446)
2003
24
Primary hyperoxaluria: a rare but important cause of nephrolithiasis. (12055367)
2002
25
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (11562405)
2001
26
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
27
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. (11502971)
2001
28
Genetic basis of primary hyperoxaluria type II. (11156703)
2000
29
Current approaches to the management of primary hyperoxaluria. (10833178)
2000
30
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. (10933316)
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
Primary hyperoxaluria. (2314431)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Primary Hyperoxaluria:

1 (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 variantBenign, Pathogenicrs4426527GRCh37Chr 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 variantBenign, Pathogenicrs34116584GRCh37Chr 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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database
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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 cycle38
arginine degradation I (arginase pathway)38
proline degradation38
glutamine degradation I38
proline biosynthesis I38
superpathway of citrulline metabolism38
proline biosynthesis II (from arginine)38
citrulline biosynthesis38
arginine degradation VI (arginase 2 pathway)38
Urea cycle and metabolism of amino groups38
asparagine biosynthesis I38
4-hydroxyproline degradation I38
citrulline degradation38
9.6DAO, PRODH, HOGA1
3
Show member pathways
choline degradation I38
glycine biosynthesis III38
serine and glycine biosynthesis38
glycine betaine degradation38
glycine biosynthesis38
9.4AGXT2, DAO, GRHPR, AGXT
48.4HOGA1, HAO2, GRHPR, AGXT, HAO1
58.3DAO, HAO1, AGXT, HAO2, PEX5
6
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
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

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Sources:
24HMDB, 45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 51PharmGKB
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Compounds related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1Hydroxypyruvic acid2410.5GRHPR, AGXT
2glyoxylate4510.5AGXT, GRHPR
3fenton4510.3EPO, GSR
4zinc protoporphyrin4510.3DAO, EPO
5oxalate4510.2AGXT, SLC26A1, GRHPR
64-Hydroxy-L-proline2410.2DAO, PRODH
7vitamin b64510.2EPO, GSR, AGXT
8fructose-1,6-bisphosphate4510.2GPI, GSR
9riboflavin45 24 1112.1GSR, DAO
10acyl-coa4510.1DAO, PEX5, AGXT
11l-alanine61 29 24 1113.1AGXT2, AGXT
12glycine29 24 1112.1DAO, AGXT, AGXT2
13Pyruvic acid24 1111.0DAO, AGXT, AGXT2
146-phosphogluconate459.9GSR, GPI
15phenylbutyrate459.9GSR, EPO, HSPA8
16thiamine45 3 24 1112.9EPO, GSR
17novobiocin45 1110.9HSP90AA1, HSPA8
18mitomycin c459.8GSR, EPO, HSPA8
19FAD249.8GSR, PRODH, DAO
20cysteamine45 24 1111.7GSR, HAO1
21polyglycolic acid459.7HAO1, GRHPR, AGXT
22sodium arsenite459.7HSP90AA1, HSPA8, GSR
234-hydroxynonenal45 2410.6HSP90AA1, HSPA8, GSR
24n-ethylmaleimide45 1110.6GSR, HSPA8, HSP90AA1
25sulfate45 2410.6SLC13A1, SLC26A1, GPI
26quercetin45 61 24 1112.6GSR, HSPA8, HSP90AA1
27flavin-adenine dinucleotide45 1110.5HAO1, DAO, GSR
28flavin459.5GSR, DAO, HAO1
29imatinib45 51 1111.5HSP90AA1, HSPA8, EPO
30radicicol45 61 1111.5HSPA8, HSP90AA1
31arsenite45 2410.5HSP90AA1, HSPA8, GSR
32creatinine459.3GPI, HSPA8, EPO, GSR
33cisplatin45 51 61 1112.3HSP90AA1, HSPA8, EPO, GSR
34Glycolic acid249.3HAO2, HAO1, GRHPR
35glyceraldehyde 3-phosphate459.3GSR, HSPA8, HSP90AA1, GPI
36carbon459.2HAO1, DAO, GPI
37Hydrogen peroxide249.2HAO2, HAO1, DAO
38vitamin d459.1SLC13A1, EPO, HSPA8, HSP90AA1
39alanine459.1AGXT, GSR, HSPA8, HSP90AA1, DAO
40l-amino acid459.1DAO, HAO1
41flavin mononucleotide45 2410.0HAO1, HAO2
42adenylate458.9GPI, HSP90AA1, HSPA8, GSR
43aspartate458.7HAO1, DAO, GPI, EPO, GSR, AGXT
44polyacrylamide458.7HSPA8, HSP90AA1, GPI, HAO1
45h2o2458.5HAO1, DAO, HSP90AA1, HSPA8, GSR
46cysteine458.5HAO1, HSP90AA1, HSPA8, GSR, AGXT
47Glyoxylic acid248.4AGXT2, AGXT, GRHPR, DAO, HAO1, HAO2
48oxygen45 249.1HAO2, HAO1, DAO, HSPA8, EPO, GSR
49lactate457.9HAO1, DAO, GPI, HSP90AA1, HSPA8, EPO
50glutamate457.6HAO1, DAO, GPI, HSP90AA1, HSPA8, PRODH

GO Terms for genes affiliated with Primary Hyperoxaluria

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Sources:
16Gene Ontology
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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

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Sources for Primary Hyperoxaluria

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet