HP1
MCID: PRM002
MIFTS: 68

Primary Hyperoxaluria (HP1) malady

Nephrological diseases category

Summaries for Primary Hyperoxaluria

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21Genetics Home Reference, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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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: Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to chronic kidney failure and nephrocalcinosis. 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 kidney, liver and bone, 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:63 Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The... more...

Description from OMIM:46 260000,613616,259900

Aliases & Classifications for Primary Hyperoxaluria

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8Disease Ontology, 63Wikipedia, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

primary hyperoxaluria 8 21 10
hyperoxaluria, primary 63 20 22 21 60
hyperoxaluria 8 22 44 60
kidney diseases 63 33 60
kidney failure 10 33 60
oxalosis 63 21 60
peroxisomal alanine:glyoxylate aminotransferase deficiency 63 21
d-glycerate dehydrogenase deficiency 63 21
hepatic agt deficiency 63 21
glyceric aciduria 63 21
glycolic aciduria 63 21
oxaluria, primary 63 21
hp1 63 21
hp2 63 21
primary hyperoxaluria, type i 60
primary hyperoxaluria type 2 60
abnormal renal function 60
hyperoxaluria primary 44
kidney dysfunction 44
kidney disease 10
renal anomaly 44
renal disease 44
renal failure 44


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Disease Ontology8 DOID:2977
SNOMED-CT56 190766003, 17901006
MeSH34 D006959

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 1111)
idRelated DiseaseScoreTop Affiliating Genes
1chronic kidney failure30.9AGXT, AGT, EPO, CLCN5, GSR
2nephrocalcinosis30.7AGXT, GRHPR, CLCN5
3glomerulonephritis30.4AMBP
4nephrotic syndrome30.3DAO, AGT, AMBP
5diabetic nephropathy30.3EPO, AGT, AMBP
6tuberculosis30.1GSR
7uremia30.1AMBP, EPO
8nephrolithiasis30.0HAO1, HAO2, AGXT, GRHPR, CLCN5, SLC13A1
9acute myocardial infarction29.9GSR, AGT
10beta thalassemia29.8GSR, EPO
11primary hyperoxaluria type 111.2
12cystic kidney10.9
13primary hyperoxaluria type 210.8
14polycystic kidney disease, autosomal recessive10.8
15hypertension10.8
16proteinuria10.7
17vascular disease10.7
18hepatitis10.6
19hyperparathyroidism10.5
20medullary cystic kidney disease type 110.5
21d-glyceric aciduria10.5
22autosomal genetic disease10.5
23nephronophthisis10.5
24diabetes mellitus10.5
25aneurysm disease10.5
26chromosomal disease10.5
27polycystic liver disease10.5
28renal cell carcinoma10.5
29kidney cancer10.5
30congenital hepatic fibrosis10.5
31hyperphosphatemia10.5
32end stage renal failure10.5
33hyperuricemia10.4
34aortic disease10.4
35uromodulin-associated kidney disease10.4
36kidney hypertrophy10.4
37atherosclerosis10.4
38hepatitis a10.4
39primary hyperoxaluria type 310.4
40disseminated intravascular coagulation10.4
41renal hypertension10.4
42umod-associated kidney disease10.4
43brain disease10.3
44parathyroid carcinoma10.3
45peritonitis10.3
46coronary artery disease10.3
47tuberous sclerosis10.3
48periodontal disease10.3
49periodontitis10.3
50polycystic kidney disease, type 210.3

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



Diseases related to primary hyperoxaluria

Clinical Features for Primary Hyperoxaluria

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46OMIM
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Clinical features from OMIM:

260000,613616,259900

Drugs & Therapeutics for Primary Hyperoxaluria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

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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32MalaCards
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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

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36MGI
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MGI Mouse Phenotypes related to Primary Hyperoxaluria:

36
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

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50PubMed
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Articles related to Primary Hyperoxaluria:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Auxiliary Liver Transplant is an Effective and Safe Treatment of Primary Hyperoxaluria. (24299026)
2014
2
Combined liver and kidney transplantation in primary hyperoxaluria: a report of three cases and review of the literature. (24029263)
2013
3
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (22547750)
2012
4
Re: hydroxyproline metabolism in mouse models of primary hyperoxaluria. (22494766)
2012
5
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. (22844106)
2012
6
Oral findings associated with primary hyperoxaluria type I. (22417769)
2012
7
Primary hyperoxaluria type 1 in Tunisian children. (21308625)
2011
8
Crystalline retinopathy in primary hyperoxaluria. (21596303)
2011
9
Spectral-domain optical coherence tomography visualisation of retinal oxalosis in primary hyperoxaluria. (19590520)
2010
10
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. (20133649)
2010
11
Current treatment for primary hyperoxaluria type 1: When should liver/kidney transplantation be considered. (19686442)
2009
12
Skeletal features of primary hyperoxaluria type 1, revisited. (19308578)
2008
13
Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. (17110443)
2006
14
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. (16850020)
2006
15
Primary hyperoxaluria type-1: an unprecedented presentation at birth. (15767715)
2005
16
Differential chemical diagnosis of primary hyperoxaluria type II. Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives. (16055048)
2005
17
Primary hyperoxaluria type 1: is genotyping clinically helpful? (15772831)
2005
18
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. (15849466)
2005
19
Molecular aetiology of primary hyperoxaluria type 1. (15499210)
2004
20
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. (12777626)
2003
21
A case of late-onset primary hyperoxaluria type 1. (11840402)
2002
22
Long term results of liver-kidney transplantation in children with primary hyperoxaluria. (11793078)
2001
23
Livedo reticularis, ulcers, and peripheral gangrene: cutaneous manifestations of primary hyperoxaluria. (11030785)
2000
24
Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. (9578076)
1998
25
Primary hyperoxaluria type 2: enzymology. (9604806)
1998
26
Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria. (9734617)
1998
27
The results of combined liver/kidney transplantation for primary hyperoxaluria (PH1) 1984-1997. The European PH1 transplant registry report. European PH1 Transplantation Study Group. (9604808)
1998
28
Availability of assays for definitive diagnosis of primary hyperoxaluria types 1 and 2. (9510895)
1998
29
Potential for bilateral nephrectomy to reduce oxalate release after combined liver and kidney transplantation for primary hyperoxaluria type 1. (9361924)
1997
30
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (9090680)
1997
31
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (8865239)
1996
32
Primary hyperoxaluria type I: an inborn error of glyoxylate metabolism. (9438141)
1996
33
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1. (8592623)
1995
34
Transplantation in primary hyperoxaluria type 1. (8538916)
1995
35
Reversal of primary hyperoxaluria cardiomyopathy after combined liver and renal transplantation. (7810511)
1995
36
Primary hyperoxaluria. (7783696)
1994
37
Primary hyperoxaluria type I. (7987654)
1994
38
Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? (8476723)
1993
39
Combined liver kidney transplantation in primary hyperoxaluria type I. Prevention of the recidive of calcium oxalate deposits in the renal graft. (1395163)
1992
40
Long term survival on haemodialysis in primary hyperoxaluria. (2401579)
1990
41
Primary hyperoxaluria type I. (2189732)
1990
42
Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. (3418107)
1988
43
Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria. (3422018)
1988
44
Timing of renal transplantation in the management of pyridoxine-resistant type I primary hyperoxaluria. (3289157)
1988
45
The subcellular metabolism of glyoxylate in primary hyperoxaluria type 1: the relationship between glycine production and oxalate overproduction. (2903269)
1988
46
Primary hyperoxaluria: effect of treatment with vitamin B6 and shock waves. (3691125)
1987
47
Primary hyperoxaluria type I: ultrastructural observations in liver biopsies. (3126353)
1987
48
The retinopathy of primary hyperoxaluria. (4070806)
1985
49
Oxalate dynamics and removal rates during haemodialysis and peritoneal dialysis in patients with primary hyperoxaluria and severe renal failure. (6368103)
1984
50
Ultrasound demonstration of diffuse cortical nephrocalcinosis in a case of primary hyperoxaluria. (106704)
1979

Genetic Variations for Primary Hyperoxaluria

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Expression for genes affiliated with Primary Hyperoxaluria

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1BioGPS, 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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37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Primary Hyperoxaluria

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Primary Hyperoxaluria according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1glyoxylate4410.4GRHPR, AGXT
2o6-benzylguanine4410.4AGT, AGXT
3oxalate4410.4SLC26A1, GRHPR, AGXT
4vitamin b64410.3GSR, EPO, AGXT
5polyglycolic acid4410.2GRHPR, AGXT, HAO1
6glycine28 11 2412.2AGXT, AGXT2, DAO
7Pyruvic acid11 2411.2AGXT, AGXT2, DAO
8inulin4410.2AGT, AMBP
9flavin-adenine dinucleotide44 1111.1HAO1, DAO, GSR
10flavin4410.1GSR, DAO, HAO1
11phenylbutyrate4410.1GSR, EPO
12calcium oxalate4410.1AGXT, AMBP
13enalapril44 49 1112.1EPO, AGT, AMBP
14zinc protoporphyrin4410.0DAO, EPO
15aprotinin44 1111.0EPO, AGT, AMBP
16Riboflavin Monophosphate1110.0HAO2, HAO1
17uric acid44 2410.9AMBP, DAO, GSR
18aspartate449.8AMBP, HAO1, AGXT, DAO
19nadh44 11 2411.8PRODH, AGT, GRHPR, GSR
20cysteamine44 11 2411.7GSR, HAO1
21sulfate44 2410.7AMBP, SLC26A11, SLC13A1, SLC26A1
22creatinine449.6AMBP, AGT, EPO, CLCN5, GSR
23lactate449.6GSR, DAO, EPO, HAO1, AMBP
24h2o2449.4HAO1, AGT, CLCN5, DAO, GSR
25oxygen44 2410.4HAO1, HAO2, AGT, EPO, DAO, GSR

GO Terms for genes affiliated with Primary Hyperoxaluria

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16Gene Ontology
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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:01926510.3AGXT, AGXT2
3glyoxylate catabolic processGO:00943610.2AGXT, AGXT2, HOGA1
4proline catabolic processGO:00656210.2DAO, PRODH
5response to salt stressGO:00965110.1EPO, AGT
64-hydroxyproline catabolic processGO:01947010.1HOGA1, PRODH
7oxalate transportGO:01953210.0SLC26A1, SLC26A6
8excretionGO:00758810.0AGT, GRHPR, CLCN5
9pyruvate biosynthetic processGO:0428669.9HOGA1, AGXT
10glyoxylate metabolic processGO:0464879.6DAO, HOGA1, GRHPR, AGXT2, AGXT, HAO1
11sulfate transportGO:0082729.5SLC26A11, SLC13A1, SLC26A10, SLC26A6, SLC26A1
12cellular nitrogen compound metabolic processGO:0346419.4HAO1, PRODH, AGXT, AGXT2, GRHPR, DAO
13small molecule metabolic processGO:0442818.9HAO1, PRODH, AGXT, AGT, AGXT2, GRHPR

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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet