HP1
MCID: PRM124
MIFTS: 65

Primary Hyperoxaluria Type 1 (HP1) malady

Eye diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Primary Hyperoxaluria Type 1

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46OMIM, 19GeneReviews, 32MalaCards
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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

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 57SNOMED-CT via Orphanet
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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 48
peroxisomal alanine:glyoxylate aminotransferase deficiency 19
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

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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

Clinical Features for Primary Hyperoxaluria Type 1

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Sources:
46OMIM, 48Orphanet
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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

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

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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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32MalaCards
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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

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36MGI
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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

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50PubMed
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Articles related to Primary Hyperoxaluria Type 1:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan. (23188539)
2013
2
Primary hyperoxaluria type 1: practical and ethical issues. (23494551)
2013
3
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1. (22529745)
2012
4
Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1. (22956877)
2012
5
Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1. (20150937)
2010
6
Early renal failure after domino liver transplantation using organs from donors with primary hyperoxaluria type 1. (20671595)
2010
7
Primary hyperoxaluria type 1: gene therapy by liver transplantation. (19424024)
2009
8
Current treatment for primary hyperoxaluria type 1: When should liver/kidney transplantation be considered. (19686442)
2009
9
Primary hyperoxaluria type 1 with a novel mutation. (18810341)
2009
10
Primary hyperoxaluria type 1: still challenging! (16810517)
2006
11
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. (16955107)
2006
12
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. (17027096)
2006
13
Infantile primary hyperoxaluria type 1 with end stage renal failure. (16916735)
2006
14
Clinical implications of mutation analysis in primary hyperoxaluria type 1. (15253729)
2004
15
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. (15110324)
2004
16
Hepatitis after sevoflurane exposure in an infant suffering from primary hyperoxaluria type 1. (15271707)
2004
17
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. (15464418)
2004
18
Primary hyperoxaluria type 1: appearance in FDG PET, bone- and bone marrow scintigraphy. (15127719)
2003
19
A case of late-onset primary hyperoxaluria type 1. (11840402)
2002
20
Liver-kidney-transplantation in type 1 primary hyperoxaluria: description and comments on a case. (10809433)
2000
21
Hypothyroidism in primary hyperoxaluria type 1. (10657836)
2000
22
Primary hyperoxaluria type 1. (10354306)
1999
23
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
24
Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. (9604813)
1998
25
Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results. (9604810)
1998
26
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. (9192270)
1997
27
Primary hyperoxaluria type 1 and urolithiasis in children: Report of three cases. (17353599)
1997
28
Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1. (8922378)
1996
29
Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. (7604440)
1995
30
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
31
Transplantation in primary hyperoxaluria type 1. (8538916)
1995
32
Progression of bone lesions in a child with primary hyperoxaluria type 1: evaluation by roentgenology and MRI. (8577496)
1995
33
Hypercalcaemia complicating systemic oxalosis in primary hyperoxaluria type 1. (8592619)
1995
34
Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1. (7559790)
1995
35
Pregnancy in a combined liver and kidney transplant recipient with type 1 primary hyperoxaluria. (7675396)
1995
36
Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. (7967498)
1994
37
Liver transplantation before advanced renal failure in primary hyperoxaluria type 1. (8130105)
1993
38
Radiological and histological improvement of oxalate osteopathy after combined liver-kidney transplantation in primary hyperoxaluria type 1. (8418628)
1993
39
ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case. (8245128)
1993
40
A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. (1301173)
1992
41
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
42
Adult type 1 primary hyperoxaluria: diagnosis by liver biopsy in a patient with end-stage kidney failure. (2061463)
1991
43
Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. (1672096)
1991
44
Metabolism of pyridoxine in mild metabolic hyperoxaluria and primary hyperoxaluria (type 1). (1771698)
1991
45
Identification of mutations associated with peroxisome-to- mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. (1703535)
1990
46
An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. (2925788)
1989
47
Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1. (3416563)
1988
48
Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine: glyoxylate aminotransferase deficiency). (3141703)
1988
49
Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity. (2880111)
1987
50
Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1. (2877320)
1986

Genetic Variations for Primary Hyperoxaluria Type 1

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 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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29KEGG, 12EMD Millipore
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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

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44Novoseek, 49PharmGKB, 11DrugBank
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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

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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:0057779.4PEX5, 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

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  • Antibodies
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Sources for Primary Hyperoxaluria Type 1

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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