HP1
MCID: PRM124
MIFTS: 65

Primary Hyperoxaluria Type 1 (HP1) malady

Eye diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Primary Hyperoxaluria Type 1

About this section
Sources:
46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Primary Hyperoxaluria Type 1, also known as glycolic aciduria, is related to primary hyperoxaluria and hepatitis, and has symptoms including lack/delayed ossification of spine/vertebrae, mutiple fractures/bone fragility and short stature/dwarfism/nanism. An important gene associated with Primary Hyperoxaluria Type 1 is AGXT (alanine-glyoxylate aminotransferase), and among its related pathways are Peroxisome and Development Angiotensin activation of ERK. The compounds acyl-coa and vitamin b6 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.

Description from OMIM:46 259900,260000,613616

GeneReviews summary for ph1

Aliases & Classifications for Primary Hyperoxaluria Type 1

About this section
Sources:
48Orphanet, 60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
primary hyperoxaluria:
Inheritance: Autosomal recessive; Age of onset: Variable
primary hyperoxaluria type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

primary hyperoxaluria type 1 19 42 20 22 48
glycolic aciduria 19 42 48
alanine-glyoxylate aminotransferase deficiency 19 42
peroxisomal alanine:glyoxylate aminotransferase deficiency 19
peroxisomal alanine-glyoxylate aminotransferase deficiency 48
hyperoxaluria, primary, type i 44
hyperoxaluria, primary, type 1 46
primary hyperoxaluria, type i 60
hepatic agt deficiency 42
hyperoxaluria, primary 60
primary hyperoxaluria 48
oxalosis 1 42
hp1 42


External Ids:

MESH via Orphanet35 D006959
ICD10 via Orphanet26 E74.8
UMLS via Orphanet61 C0020500
SNOMED-CT via Orphanet57 65520001

Related Diseases for Primary Hyperoxaluria Type 1

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Primary Hyperoxaluria Type 1:



Diseases related to primary hyperoxaluria type 1

Clinical Features for Primary Hyperoxaluria Type 1

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

259900,260000,613616

Clinical synopsis from OMIM:

259900

Symptoms:

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

Drugs & Therapeutics for Primary Hyperoxaluria Type 1

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Primary Hyperoxaluria Type 1

Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria Type 1

Search NIH Clinical Center for Primary Hyperoxaluria Type 1

Search CenterWatch for Primary Hyperoxaluria Type 1

Genetic Tests for Primary Hyperoxaluria Type 1

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Primary Hyperoxaluria Type 1:

id Genetic test Affiliating Genes
1 Hyperoxaluria, Primary, Type 120 AGXT
2 Primary Hyperoxaluria, Type I22

Anatomical Context for Primary Hyperoxaluria Type 1

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Primary Hyperoxaluria Type 1:

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

Animal Models for Primary Hyperoxaluria Type 1 or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Primary Hyperoxaluria Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4PEX5, EPO, AGT
2MP:00053678.3AGXT, AGT, PEX5
3MP:00053768.0PEX5, EPO, AGT, AGXT

Publications for Primary Hyperoxaluria Type 1

About this section
Sources:
50PubMed
See all sources

Articles related to Primary Hyperoxaluria Type 1:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review. (23884230)
2013
2
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
3
Primary hyperoxaluria type 1 in Tunisian children. (22382246)
2012
4
Molecular insights into primary hyperoxaluria type 1 pathogenesis. (22201765)
2012
5
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. (20016466)
2010
6
Cortical nephrocalcinosis in an infant caused by primary hyperoxaluria type 1. (20953596)
2010
7
Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1. (20628764)
2010
8
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. (19571789)
2009
9
Pediatrics: Timely diagnosis of primary hyperoxaluria type 1. (19935811)
2009
10
Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth. (19424045)
2009
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
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. (16850020)
2006
14
Cadaveric orthotopic auxiliary split liver transplantation and kidney transplantation: an alternative for type 1 primary hyperoxaluria. (16082341)
2005
15
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. (15961946)
2005
16
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. (15963748)
2005
17
Molecular etiology of primary hyperoxaluria type 1: new directions for treatment. (15961951)
2005
18
Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. (15580638)
2005
19
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. (15365967)
2004
20
Liver transplantation for type 1 primary hyperoxaluria as a cure for combined thrombophilia. (15543348)
2004
21
Molecular aetiology of primary hyperoxaluria type 1. (15499210)
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
Diagnosis of primary hyperoxaluria type 1 by determination of peritoneal dialysate glycolic acid using standard organic-acids analysis method. (17986551)
2003
25
Renal graft failure due to type 1 primary hyperoxaluria. (12607592)
2002
26
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (11562405)
2001
27
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. (11502971)
2001
28
Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1. (11733634)
2001
29
Combined liver-kidney transplantation for primary hyperoxaluria type 1. (11572916)
2001
30
Primary hyperoxaluria type 1 causing end-stage renal disease in a 45-year-old patient. (11174030)
2001
31
Pre-emptive liver transplantation in primary hyperoxaluria type 1: a controversial issue. (10933312)
2000
32
Potential for bilateral nephrectomy to reduce oxalate release after combined liver and kidney transplantation for primary hyperoxaluria type 1. (9361924)
1997
33
Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT). (9323564)
1997
34
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. (9002528)
1997
35
Transplantation procedures in primary hyperoxaluria type 1. (8832145)
1996
36
Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1. (8993566)
1996
37
Fatal cutaneous necrosis mimicking calciphylaxis in a patient with type 1 primary hyperoxaluria. (7611799)
1995
38
Primary hyperoxaluria type 1: the therapeutic dilemma. (7572411)
1995
39
Primary Hyperoxaluria Type 1 (20301460)
1993
40
Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? (8476723)
1993
41
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. (8101040)
1993
42
Molecular and clinical heterogeneity in primary hyperoxaluria type 1. (2008900)
1991
43
Reversal of cardiac dysfunction secondary to type 1 primary hyperoxaluria after combined liver-kidney transplantation. (2012090)
1991
44
Clinical quiz. Primary hyperoxaluria (PH) type 1. (1867995)
1991
45
Early liver transplantation for primary hyperoxaluria type 1 in an infant with chronic renal failure. (2129359)
1990
46
Combined liver-kidney transplantation in primary hyperoxaluria type 1. (2238068)
1990
47
Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1. (2717533)
1989
48
Liver transplantation in primary hyperoxaluria type 1. (2566086)
1989
49
Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. (3418107)
1988
50
Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1. (2443389)
1987

Genetic Variations for Primary Hyperoxaluria Type 1

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Primary Hyperoxaluria Type 1:

62 (show all 34)
id Symbol AA change Variation ID SNP ID
1AGXTp.Gly41ArgVAR_000588
2AGXTp.Phe152IleVAR_000589
3AGXTp.Gly170ArgVAR_000590
4AGXTp.Ser187PheVAR_000591
5AGXTp.Ser205ProVAR_000592
6AGXTp.Gly82GluVAR_008878
7AGXTp.Arg233CysVAR_008879
8AGXTp.Arg233HisVAR_008880
9AGXTp.Ile244ThrVAR_008881
10AGXTp.Gly41ValVAR_010969
11AGXTp.Gly116ArgVAR_010971
12AGXTp.Gly156ArgVAR_010972
13AGXTp.Asp183AsnVAR_010973
14AGXTp.Thr9AsnVAR_060547
15AGXTp.Gly82ArgVAR_060548
16AGXTp.Trp108ArgVAR_060549
17AGXTp.Ala112AspVAR_060550
18AGXTp.Leu153ValVAR_060552
19AGXTp.Ser158LeuVAR_060553
20AGXTp.Gly161ArgVAR_060554
21AGXTp.Cys173TyrVAR_060555
22AGXTp.Gly190ArgVAR_060556
23AGXTp.Met195ArgVAR_060557
24AGXTp.Asp201GluVAR_060558
25AGXTp.Ser218LeuVAR_060559
26AGXTp.Arg233LeuVAR_060560
27AGXTp.Asp243HisVAR_060561
28AGXTp.Cys253ArgVAR_060562
29AGXTp.Ile279MetVAR_060563
30AGXTp.Ser287ThrVAR_060566
31AGXTp.Arg289CysVAR_060567
32AGXTp.Leu298ProVAR_060569
33AGXTp.Val336AspVAR_060571
34AGXTp.Gly350AspVAR_060572

Expression for genes affiliated with Primary Hyperoxaluria Type 1

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Hyperoxaluria Type 1

Search GEO for disease gene expression data for Primary Hyperoxaluria Type 1.

Pathways for genes affiliated with Primary Hyperoxaluria Type 1

About this section
Sources:
29KEGG, 12EMD Millipore
See all sources

Pathways related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4PEX5, AGXT
2
Hide members
9.0EPO, AGT

Compounds for genes affiliated with Primary Hyperoxaluria Type 1

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank
See all sources

Compounds related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acyl-coa449.4PEX5, AGXT
2vitamin b6449.3EPO, AGXT
3tripeptide449.3AGXT, PEX5
4o6-benzylguanine449.2AGT, AGXT
5enalapril44 49 1111.1EPO, AGT
6aprotinin44 119.7EPO, AGT

GO Terms for genes affiliated with Primary Hyperoxaluria Type 1

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:0057779.4PEX5, AGXT
2peroxisomal matrixGO:0057829.1PEX5, AGXT

Biological processes related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein targeting to peroxisomeGO:0066259.4PEX5, AGXT
2agingGO:0075689.0EPO, AGT
3response to salt stressGO:0096518.9EPO, AGT
4positive regulation of multicellular organism growthGO:0400188.8PEX5, AGT

Molecular functions related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.0EPO, AGT

Products for genes affiliated with Primary Hyperoxaluria Type 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Hyperoxaluria Type 1

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