HP2
MCID: PRM125
MIFTS: 41

Primary Hyperoxaluria Type 2 (HP2) malady

Genetic diseases, Rare diseases, Nephrological diseases, Eye diseases categories

Summaries for Primary Hyperoxaluria Type 2

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44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Primary hyperoxaluria type 2  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. primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (grhpr) that normally prevents the buildup of oxalate. this enzyme shortage is caused by mutations in the grhpr gene. primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern. last updated: 1/3/2013

MalaCards: Primary Hyperoxaluria Type 2, also known as d-glycerate dehydrogenase deficiency, is related to primary hyperoxaluria and d-glyceric aciduria. An important gene associated with Primary Hyperoxaluria Type 2 is GRHPR (glyoxylate reductase/hydroxypyruvate reductase), and among its related pathways is Metabolism. The compounds NADP and nadph have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver.

Description from OMIM:48 260000

GeneReviews summary for ph2

Aliases & Classifications for Primary Hyperoxaluria Type 2

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
primary hyperoxaluria type 2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

primary hyperoxaluria type 2 20 44 21 23 50 63
d-glycerate dehydrogenase deficiency 20 44 50
glyoxylate reductase/hydroxypyruvate reductase deficiency 20 44
hyperoxaluria, primary, type ii 48 46
l-glyceric aciduria 20 50
glyceric aciduria 44
oxalosis 2 44
hp2 44


External Ids:

SNOMED-CT via Orphanet60 40951006
OMIM48 260000
ICD10 via Orphanet27 E74.8

Related Diseases for Primary Hyperoxaluria Type 2

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18GeneCards, 19GeneDecks
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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 Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria31.3GRHPR, GSR
2d-glyceric aciduria10.8
3end stage renal failure10.4
4nephrocalcinosis10.4
5d-glycericacidemia10.2
6west syndrome10.2
7malaria10.0
8primary hyperoxaluria type 110.0

Graphical network of diseases related to Primary Hyperoxaluria Type 2:



Diseases related to primary hyperoxaluria type 2

Symptoms for Primary Hyperoxaluria Type 2

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48OMIM
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Symptoms by clinical synopsis from OMIM:

260000

Clinical features from OMIM:

260000

Drugs & Therapeutics for Primary Hyperoxaluria Type 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Primary Hyperoxaluria Type 2

Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria Type 2

Search NIH Clinical Center for Primary Hyperoxaluria Type 2

Search CenterWatch for Primary Hyperoxaluria Type 2

Genetic Tests for Primary Hyperoxaluria Type 2

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21GeneTests, 23GTR
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Genetic tests related to Primary Hyperoxaluria Type 2:

id Genetic test Affiliating Genes
1 Hyperoxaluria, Primary, Type 221 GRHPR
2 Primary Hyperoxaluria, Type Ii23

Anatomical Context for Primary Hyperoxaluria Type 2

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34MalaCards
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MalaCards organs/tissues related to Primary Hyperoxaluria Type 2:

34
Kidney, Liver

Animal Models for Primary Hyperoxaluria Type 2 or affiliated genes

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Publications for Primary Hyperoxaluria Type 2

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53PubMed
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Articles related to Primary Hyperoxaluria Type 2:

(show all 23)
idTitleAuthorsYear
1
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. (24116921)
2013
2
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. (19296982)
2009
3
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. (17510093)
2007
4
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. (16597637)
2006
5
Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2? (16820377)
2006
6
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. (16306119)
2005
7
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. (14635115)
2003
8
Primary hyperoxaluria type 2 in children. (12185464)
2002
9
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. (11728965)
2001
10
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? (11477177)
2001
11
Recent developments in our understanding of primary hyperoxaluria type 2. (10541261)
1999
12
Primary hyperoxaluria type 2: enzymology. (9604806)
1998
13
Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2. (9463747)
1998
14
Primary hyperoxaluria type 2. (9243228)
1997
15
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (9090680)
1997
16
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (8865239)
1996
17
Primary hyperoxaluria type 2. (8592629)
1995
18
Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or end-stage renal failure. (8538930)
1995
19
End-stage renal failure in primary hyperoxaluria type 2. (8177288)
1994
20
Primary Hyperoxaluria Type 2 (20301742)
1993
21
High-performance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. (1458609)
1992
22
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease. (2516173)
1989
23
L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families. (6434867)
1984

Variations for Primary Hyperoxaluria Type 2

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Primary Hyperoxaluria Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1GRHPRNM_012203.1: c.403_405+2delAAGTdeletionPathogenicrs180177309GRCh37Chr 9, 37426650: 37428483
2GRHPRNM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs)deletionPathogenicrs80356708GRCh37Chr 9, 37424861: 37424861
3GRHPRNM_012203.1(GRHPR): c.295C> T (p.Arg99Ter)single nucleotide variantPathogenicrs119490108GRCh37Chr 9, 37426542: 37426542

Expression for genes affiliated with Primary Hyperoxaluria Type 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Hyperoxaluria Type 2

Search GEO for disease gene expression data for Primary Hyperoxaluria Type 2.

Pathways for genes affiliated with Primary Hyperoxaluria Type 2

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GRHPR, GSR

Compounds for genes affiliated with Primary Hyperoxaluria Type 2

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Sources:
25HMDB, 46Novoseek, 30IUPHAR, 12DrugBank
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Compounds related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1NADP259.1GRHPR, GSR
2nadph46 2510.1GRHPR, GSR
3nad30 2510.0GRHPR, GSR
4nadh46 25 1210.8GRHPR, GSR

GO Terms for genes affiliated with Primary Hyperoxaluria Type 2

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17Gene Ontology
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Cellular components related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058299.1GRHPR, GSR
2extracellular vesicular exosomeGO:0700628.8GRHPR, GSR

Biological processes related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1GRHPR, GSR

Products for genes affiliated with Primary Hyperoxaluria Type 2

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Sources for Primary Hyperoxaluria Type 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet