HP1
MCID: PRM124
MIFTS: 60

Primary Hyperoxaluria Type 1 (HP1) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases categories
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Summaries for Primary Hyperoxaluria Type 1

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Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Primary Hyperoxaluria Type 1, also known as glycolic aciduria, is related to primary hyperoxaluria and primary hyperoxaluria type 2, and has symptoms including lack/delayed ossification of spine/vertebrae, urinary/renal lithiasis/kidney stones/nephritic colic and mutiple fractures/bone fragility. An important gene associated with Primary Hyperoxaluria Type 1 is AGXT (alanine-glyoxylate aminotransferase), and among its related pathways is Peroxisome. The compounds vitamin b6 and aspartate 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 liver/biliary system.

Description from OMIM:47 259900,260000,613616

GeneReviews summary for ph1

Aliases & Classifications for Primary Hyperoxaluria Type 1

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 49
glycolic aciduria 43 49
peroxisomal alanine glyoxylate aminotransferase deficiency 43
peroxisomal alanine-glyoxylate aminotransferase deficiency 49
alanine-glyoxylate aminotransferase deficiency 43
serine pyruvate aminotransferase deficiency 43
hyperoxaluria, primary, type 1 47
hyperoxaluria, primary, type i 45
primary hyperoxaluria, type i 62
hepatic agt deficiency 43
hyperoxaluria, primary 62
primary hyperoxaluria 49
oxalosis 1 43
hp1 43


External Ids:

MESH via Orphanet36 D006959, C536414
ICD10 via Orphanet26 E74.8
UMLS via Orphanet63 C0020500, C0268164
SNOMED-CT via Orphanet59 65520001

Related Diseases for Primary Hyperoxaluria Type 1

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Primary Hyperoxaluria Type 1:



Diseases related to primary hyperoxaluria type 1

Symptoms for Primary Hyperoxaluria Type 1

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

259900

Clinical features from OMIM:

259900,260000,613616

Symptoms:

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

Drugs & Therapeutics for Primary Hyperoxaluria Type 1

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

Search ClinicalTrials for Primary Hyperoxaluria Type 1

Search NIH Clinical Center for Primary Hyperoxaluria Type 1

Genetic Tests for Primary Hyperoxaluria Type 1

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20GeneTests, 22GTR
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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

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33MalaCards
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MalaCards organs/tissues related to Primary Hyperoxaluria Type 1:

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

Animal Models for Primary Hyperoxaluria Type 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Primary Hyperoxaluria Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0AGXT, PEX5
2MP:00053708.8EPO, PEX5
3MP:00053768.4AGXT, EPO, PEX5

Publications for Primary Hyperoxaluria Type 1

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52PubMed
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Articles related to Primary Hyperoxaluria Type 1:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review. (23884230)
2013
2
Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan. (23188539)
2013
3
Primary hyperoxaluria type 1 in Tunisian children. (21308625)
2011
4
Combined split liver and kidney transplantation in a three-year-old child with primary hyperoxaluria type 1 and complete thrombosis of the inferior vena cava. (19793227)
2011
5
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. (19571789)
2009
6
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. (19479957)
2009
7
Successful outcome after early combined liver and en bloc-kidney transplant in an infant with primary hyperoxaluria type 1: a case report. (19496983)
2009
8
Primary hyperoxaluria type 1: gene therapy by liver transplantation. (19424024)
2009
9
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. (18282470)
2008
10
Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor. (16904473)
2006
11
Primary hyperoxaluria type 1: still challenging! (16810517)
2006
12
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. (16955107)
2006
13
Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1. (16861941)
2006
14
Concurrent or sequential liver and kidney transplantation in children with primary hyperoxaluria type 1? (16269037)
2005
15
Primary hyperoxaluria type 1 in Japan. (15961950)
2005
16
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. (15961946)
2005
17
Clinical implications of mutation analysis in primary hyperoxaluria type 1. (15253729)
2004
18
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. (15365967)
2004
19
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. (15110324)
2004
20
Sequential liver-kidney transplantation from a living-related donor in primary hyperoxaluria type 1 (oxalosis). (12591446)
2003
21
Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1. (12687460)
2003
22
A case of late-onset primary hyperoxaluria type 1. (11840402)
2002
23
Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. (11502971)
2001
24
Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1. (11733634)
2001
25
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. (10933316)
2000
26
Combined liver-kidney transplantation in primary hyperoxaluria type 1. (10603104)
1999
27
Primary hyperoxaluria type 1: An underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children. (17337975)
1999
28
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
29
Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. (9604813)
1998
30
Molecular analysis of the AGXT gene in Italian patients with primary hyperoxaluria type 1 (PH1). (9604804)
1998
31
Potential for bilateral nephrectomy to reduce oxalate release after combined liver and kidney transplantation for primary hyperoxaluria type 1. (9361924)
1997
32
Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1. (9365788)
1997
33
Transplantation procedures in primary hyperoxaluria type 1. (8832145)
1996
34
Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. (7604440)
1995
35
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1. (8592623)
1995
36
The European Primary Hyperoxaluria Type 1 Transplant Registry report on the results of combined liver/kidney transplantation for primary hyperoxaluria 1984-1994. European PH1 Transplantation Study Group. (8592624)
1995
37
Transplantation in primary hyperoxaluria type 1. (8538916)
1995
38
Resistance to recombinant human erythropoietin therapy in a child with renal failure due to primary hyperoxaluria type 1. (7870357)
1994
39
Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. (7967498)
1994
40
Primary Hyperoxaluria Type 1 (20301460)
1993
41
Primary hyperoxaluria type 1--liver transplantation before end-stage renal disease? (8357394)
1993
42
Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? (8476723)
1993
43
Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. (8507692)
1993
44
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1. (1879825)
1991
45
Molecular and clinical heterogeneity in primary hyperoxaluria type 1. (2008900)
1991
46
Combined liver-kidney and isolated liver transplantations for primary hyperoxaluria type 1: the European experience. The European Study Group on Transplantation in Hyperoxaluria Type 1. (1922912)
1991
47
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. (2925788)
1989
48
Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1. (2717533)
1989
49
Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. (3418107)
1988
50
Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1. (3416563)
1988

Variations for Primary Hyperoxaluria Type 1

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Primary Hyperoxaluria Type 1:

64 (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

Clinvar genetic disease variations for Primary Hyperoxaluria Type 1:

1 (show all 16)
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
3AGXTNM_000030.2(AGXT): c.1020A> G (p.Ile340Met)single nucleotide variantBenign, Pathogenicrs4426527GRCh37Chr 2, 241817516: 241817516
4AGXTAGXT, 1-BP INS, 33CinsertionPathogenic
5AGXTNM_000030.2(AGXT): c.508G> A (p.Gly170Arg)single nucleotide variantPathogenicrs121908529GRCh37Chr 2, 241810850: 241810850
6AGXTNM_000030.2(AGXT): c.613T> C (p.Ser205Pro)single nucleotide variantPathogenicrs121908520GRCh37Chr 2, 241813412: 241813412
7AGXTNM_000030.2(AGXT): c.32C> T (p.Pro11Leu)single nucleotide variantBenign, Pathogenicrs34116584GRCh37Chr 2, 241808314: 241808314
8AGXTNM_000030.2(AGXT): c.198C> G (p.Tyr66Ter)single nucleotide variantPathogenicrs121908521GRCh37Chr 2, 241808619: 241808619
9AGXTNM_000030.2(AGXT): c.245G> A (p.Gly82Glu)single nucleotide variantPathogenicrs121908522GRCh37Chr 2, 241808666: 241808666
10AGXTNM_000030.2(AGXT): c.121G> A (p.Gly41Arg)single nucleotide variantPathogenicrs121908523GRCh37Chr 2, 241808403: 241808403
11AGXTNM_000030.2(AGXT): c.454T> A (p.Phe152Ile)single nucleotide variantPathogenicrs121908524GRCh37Chr 2, 241810796: 241810796
12AGXTNM_000030.2(AGXT): c.731T> C (p.Ile244Thr)single nucleotide variantPathogenicrs121908525GRCh37Chr 2, 241814576: 241814576
13AGXTNM_000030.2(AGXT): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs121908526GRCh37Chr 2, 241814542: 241814542
14AGXTNM_000030.2(AGXT): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121908527GRCh37Chr 2, 241814543: 241814543
15AGXTNM_000030.2(AGXT): c.738G> A (p.Trp246Ter)single nucleotide variantPathogenicrs121908528GRCh37Chr 2, 241814583: 241814583
16AGXTNM_000030.2(AGXT): c.466G> A (p.Gly156Arg)single nucleotide variantPathogenicrs121908530GRCh37Chr 2, 241810808: 241810808

Expression for genes affiliated with Primary Hyperoxaluria Type 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Hyperoxaluria Type 1

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Pathways for genes affiliated with Primary Hyperoxaluria Type 1

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50PathCards, 30KEGG
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Pathways related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0AGXT, PEX5

Compounds for genes affiliated with Primary Hyperoxaluria Type 1

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45Novoseek
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Compounds related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin b6459.3AGXT, EPO
2aspartate459.3AGXT, EPO
3tripeptide458.9AGXT, PEX5
4acyl-coa458.7AGXT, PEX5

GO Terms for genes affiliated with Primary Hyperoxaluria Type 1

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16Gene Ontology
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Cellular components related to Primary Hyperoxaluria Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:0057779.0AGXT, PEX5
2peroxisomal matrixGO:0057828.7AGXT, PEX5

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

idNameGO IDScoreTop Affiliating Genes
1protein targeting to peroxisomeGO:0066259.0AGXT, PEX5

Products for genes affiliated with Primary Hyperoxaluria Type 1

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Sources for Primary Hyperoxaluria Type 1

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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