HP1
MCID: PRM002
MIFTS: 63

Primary Hyperoxaluria (HP1) malady

Nephrological category

Summaries for Primary Hyperoxaluria

Sources:
21Genetics Home Reference, 34MedlinePlus, 64Wikipedia, 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 diabetic nephropathy. An important gene associated with Primary Hyperoxaluria is AGXT (alanine-glyoxylate aminotransferase), and among its related pathways are proline degradation and Multifunctional anion exchangers. The drugs dopamine and dopamine hydrochloride and the compounds glyoxylate and o6-benzylguanine have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and bone marrow, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

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...

Description from OMIM:47 260000,613616,259900

Aliases & Classifications for Primary Hyperoxaluria

Sources:
8Disease Ontology, 64Wikipedia, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Aliases & Descriptions:

primary hyperoxaluria 8 21 10
hyperoxaluria, primary 64 20 22 21 61
hyperoxaluria 8 22 45 61
kidney diseases 64 34 61
kidney failure 10 34 61
oxalosis 64 21 61
peroxisomal alanine:glyoxylate aminotransferase deficiency 64 21
d-glycerate dehydrogenase deficiency 64 21
hepatic agt deficiency 64 21
glyceric aciduria 64 21
glycolic 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
hyperoxaluria primary 45
kidney dysfunction 45
kidney disease 10
renal anomaly 45
renal disease 45
renal failure 45


External Ids:

Disease Ontology8 DOID:2977
SNOMED-CT57 190766003, 17901006
MeSH35 D006959

Related Diseases for Primary Hyperoxaluria

Sources:
17GeneCards, 18GeneDecks
See all sources

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 1095)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis30.8CLCN5, GRHPR, AGXT
2diabetic nephropathy30.3EPO, AGT, AMBP
3tuberculosis30.2GSR
4uremia30.1AMBP, EPO
5nephrolithiasis30.0SLC26A6, SLC26A1, SLC13A1, CLCN5, GRHPR, AGXT
6acute myocardial infarction29.9AGT, GSR
7beta thalassemia29.9GSR, EPO
8polycystic kidney disease, autosomal recessive10.8
9vascular disease10.7
10lip disease10.6
11insulin resistance10.6
12primary hyperoxaluria type 110.6
13primary hyperoxaluria type 210.6
14autosomal genetic disease10.6
15nephronophthisis10.5
16aneurysm disease10.5
17polycystic liver disease10.5
18congenital hepatic fibrosis10.5
19hyperphosphatemia10.5
20medullary cystic kidney disease type 110.5
21renal hypouricemia10.5
22hyperuricemia10.5
23aortic disease10.5
24hemoglobin d disease10.5
25hemoglobin c disease10.5
26uromodulin-associated kidney disease10.5
27kidney hypertrophy10.4
28ren-related kidney disease10.4
29atherosclerosis10.4
30primary hyperoxaluria type 310.4
31hepatitis c10.4
32umod-associated kidney disease10.4
33hepatitis d10.4
34brain disease10.4
35nutrition disease10.4
36coronary artery disease,10.4
37hemoglobin e disease10.4
38tuberous sclerosis10.4
39polycystic kidney disease, type 210.4
40nephritis10.4
41parathyroid carcinoma10.3
42frasier syndrome10.3
43gout10.3
44renal osteodystrophy10.3
45polycystic kidney disease, type 110.3
46cardiovascular disease risk factor10.3
47deficiency anemia10.3
48intracranial aneurysm10.3
49nephrogenic systemic fibrosis10.3
50acute proliferative glomerulonephritis10.3

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



Diseases related to primary hyperoxaluria

Clinical Features for Primary Hyperoxaluria

Sources:
47OMIM
See all sources

Clinical features from OMIM:

260000,613616,259900

Drugs & Therapeutics for Primary Hyperoxaluria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Primary Hyperoxaluria

Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria

Search NIH Clinical Center for Primary Hyperoxaluria

Search CenterWatch for Primary Hyperoxaluria

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Primary Hyperoxaluria

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Primary Hyperoxaluria:

33
Liver, Kidney, Bone marrow, Heart, Colon, T cells, Fetal liver

Animal Models for Primary Hyperoxaluria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7AGXT, AGT, GRHPR, CLCN5, SLC13A1, SLC26A6
2MP:00053768.4PRODH, AGXT, AGT, GRHPR, EPO, CLCN5

Publications for Primary Hyperoxaluria

Sources:
51PubMed
See all sources

Articles related to Primary Hyperoxaluria:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I. (24089413)
2013
2
Primary hyperoxaluria. (24283240)
2013
3
Kidney stones in primary hyperoxaluria: new lessons learnt. (23940605)
2013
4
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. (24116921)
2013
5
Crystalline retinopathy from primary hyperoxaluria. (23007672)
2012
6
Hydroxyproline metabolism in mouse models of primary hyperoxaluria. (22189945)
2012
7
Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. (22018727)
2012
8
Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria. (21103899)
2011
9
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria. (21460356)
2011
10
Primary hyperoxaluria involving the liver and hepatic artery: images of an aggressive disease. (20224594)
2010
11
Primary hyperoxaluria type 1: gene therapy by liver transplantation. (19424024)
2009
12
Pediatrics: Timely diagnosis of primary hyperoxaluria type 1. (19935811)
2009
13
Primary hyperoxaluria: clinical course, diagnosis, and treatment after kidney failure. (18155525)
2008
14
Oxalate transport as contributor to primary hyperoxaluria: the jury is still out. (19026355)
2008
15
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. (16597637)
2006
16
Model for end-stage liver disease (MELD) exception for primary hyperoxaluria. (17123291)
2006
17
Feline primary hyperoxaluria. (16603399)
2006
18
Late-onset primary hyperoxaluria diagnosed after renal transplantation presented with early recurrence of disease. (15919697)
2005
19
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. (15963748)
2005
20
Problems in the investigation of urine from patients suffering from primary hyperoxaluria type 1. (16151774)
2005
21
Liver transplantation for type 1 primary hyperoxaluria as a cure for combined thrombophilia. (15543348)
2004
22
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. (12543880)
2003
23
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. (12899834)
2003
24
Hypoechoic renal peripyramidal rings in primary hyperoxaluria. (10628496)
2000
25
Steroid-responsive pleuropericarditis and livedo reticularis in an unusual case of adult-onset primary hyperoxaluria. (10196036)
1999
26
Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (10394939)
1999
27
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. (10484776)
1999
28
Successful kidney retransplantation after combined liver/kidney transplantation in primary hyperoxaluria type I. (9641198)
1998
29
Primary hyperoxaluria in an adult with renal failure, livedo reticularis, retinopathy, and peripheral neuropathy. (9186083)
1997
30
Optimal management of renal failure in primary hyperoxaluria in infancy, and the use of combined kidney/liver transplantation. (10084781)
1997
31
Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1. (9365788)
1997
32
Primary hyperoxaluria type 1 and urolithiasis in children: Report of three cases. (17353599)
1997
33
A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1. (9247673)
1997
34
Late cardiac and vascular complications of primary hyperoxaluria in childhood. (8897584)
1996
35
Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1. (8993566)
1996
36
Primary hyperoxaluria type 2. (8592629)
1995
37
Bony content of oxalate in patients with primary hyperoxaluria or oxalosis-unrelated renal failure. (7564076)
1995
38
Primary hyperoxaluria type I. (7993269)
1994
39
Molecular and cell biology of primary hyperoxaluria type 1. (7849461)
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
Molecular and clinical heterogeneity in primary hyperoxaluria type 1. (2008900)
1991
43
Ocular histopathologic findings in a 46-year-old man with primary hyperoxaluria. (2003800)
1991
44
Metabolism of pyridoxine in mild metabolic hyperoxaluria and primary hyperoxaluria (type 1). (1771698)
1991
45
Primary hyperoxaluria. (2314431)
1990
46
Renal transplantation in primary hyperoxaluria/oxalosis: a report of two cases. (3303511)
1987
47
Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity. (2880111)
1987
48
Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1. (2877320)
1986
49
Primary hyperoxaluria and adenosine deaminase deficiency without immunodeficiency. (7343525)
1980
50
Plasma level and renal clearance of oxalate in normal subjects and in patients with primary hyperoxaluria or chronic renal failure or both. (477214)
1979

Genetic Variations for Primary Hyperoxaluria

Expression for genes affiliated with Primary Hyperoxaluria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Primary Hyperoxaluria

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1glyoxylate4510.4AGXT, GRHPR
2o6-benzylguanine4510.4AGT, AGXT
3oxalate4510.4GRHPR, AGXT, SLC26A1
4vitamin b64510.3AGXT, EPO, GSR
5polyglycolic acid4510.2AGXT, GRHPR, HAO1
6glycine29 11 2412.2DAO, AGXT2, AGXT
7Pyruvic acid11 2411.2DAO, AGXT2, AGXT
8inulin4510.2AMBP, AGT
9flavin-adenine dinucleotide45 1111.1DAO, HAO1, GSR
10flavin4510.1GSR, HAO1, DAO
11phenylbutyrate4510.1GSR, EPO
12enalapril45 50 1112.1AMBP, AGT, EPO
13calcium oxalate4510.1AMBP, AGXT
14Riboflavin Monophosphate1110.0HAO2, HAO1
15zinc protoporphyrin4510.0EPO, DAO
16aprotinin45 1111.0AMBP, EPO, AGT
17uric acid45 2410.9AMBP, DAO, GSR
18aspartate459.8HAO1, AGXT, AMBP, DAO
19nadh45 11 2411.8GSR, GRHPR, AGT, PRODH
20cysteamine45 11 2411.7HAO1, GSR
21sulfate45 2410.7SLC26A11, AMBP, SLC13A1, SLC26A1
22creatinine459.6AMBP, EPO, GSR, AGT, CLCN5
23lactate459.6HAO1, DAO, GSR, EPO, AMBP
24h2o2459.4HAO1, GSR, AGT, CLCN5, DAO
25oxygen45 2410.4HAO1, HAO2, AGT, EPO, DAO, GSR

GO Terms for genes affiliated with Primary Hyperoxaluria

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:0057779.5DAO, AGXT, HAO2, HAO1
2peroxisomal matrixGO:0057829.4DAO, GRHPR, AGXT, HAO1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1oxalic acid secretionGO:04672410.3AGXT, SLC26A6
2glycine biosynthetic process, by transamination of glyoxylateGO:01926510.3AGXT2, AGXT
3glyoxylate catabolic processGO:00943610.2HOGA1, AGXT, AGXT2
4proline catabolic processGO:00656210.2DAO, PRODH
5response to salt stressGO:00965110.1AGT, EPO
6oxalate transportGO:01953210.1SLC26A6, SLC26A1
74-hydroxyproline catabolic processGO:01947010.0HOGA1, PRODH
8excretionGO:00758810.0GRHPR, AGT, CLCN5
9pyruvate biosynthetic processGO:0428669.9AGXT, HOGA1
10glyoxylate metabolic processGO:0464879.6DAO, HAO1, AGXT, AGXT2, HOGA1, GRHPR
11sulfate transportGO:0082729.5SLC26A1, SLC26A11, SLC13A1, SLC26A10, SLC26A6
12cellular nitrogen compound metabolic processGO:0346419.4HAO1, PRODH, AGXT, AGXT2, GRHPR, DAO
13small molecule metabolic processGO:0442818.9SLC26A1, DAO, GRHPR, AGXT2, AGT, PRODH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1alanine-glyoxylate transaminase activityGO:00845310.3AGXT, AGXT2
2oxalate transmembrane transporter activityGO:01953110.2SLC26A1, SLC26A6
3sulfate transmembrane transporter activityGO:01511610.2SLC26A10, SLC26A6, SLC26A1
4chloride transmembrane transporter activityGO:01510810.1SLC26A1, SLC26A6
5anion:anion antiporter activityGO:01530110.1SLC26A1, SLC26A6, SLC26A11
6medium-chain-(S)-2-hydroxy-acid oxidase activityGO:05285410.1HAO1, HAO2
7secondary active sulfate transmembrane transporter activityGO:00827110.1SLC26A11, SLC26A6, SLC26A1
8long-chain-(S)-2-hydroxy-long-chain-acid oxidase activityGO:05285310.1HAO1, HAO2
9very-long-chain-(S)-2-hydroxy-acid oxidase activityGO:05285210.1HAO1, HAO2
10FAD bindingGO:07194910.0PRODH, DAO
11(S)-2-hydroxy-acid oxidase activityGO:00397310.0HAO1, HAO2
12FMN bindingGO:0101819.9HAO2, HAO1
13antiporter activityGO:0152979.7SLC26A10, CLCN5
14receptor bindingGO:0051029.4DAO, AGXT, HAO2, HAO1

Products for genes affiliated with Primary Hyperoxaluria

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Sources for Primary Hyperoxaluria

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet