HP2
MCID: PRM125
MIFTS: 37

Primary Hyperoxaluria Type 2 (HP2) malady

Nephrological diseases, Metabolic diseases categories

Summaries for Primary Hyperoxaluria Type 2

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Sources:
42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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). The compounds nadph and nad have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver.

Description from OMIM:46 260000

GeneReviews summary for ph2

Aliases & Classifications for Primary Hyperoxaluria Type 2

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Sources:
19GeneReviews, 42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 46OMIM, 44Novoseek, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
primary hyperoxaluria type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

primary hyperoxaluria type 2 19 42 20 22 48 60
d-glycerate dehydrogenase deficiency 19 42 48
glyoxylate reductase/hydroxypyruvate reductase deficiency 19 42
hyperoxaluria, primary, type ii 46 44
l-glyceric aciduria 19 48
glyceric aciduria 42
oxalosis 2 42
hp2 42


External Ids:

SNOMED-CT via Orphanet57 40951006
OMIM46 260000
ICD10 via Orphanet26 E74.8

Related Diseases for Primary Hyperoxaluria Type 2

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

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria31.3GSR, GRHPR
2d-glyceric aciduria10.5
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

Clinical Features for Primary Hyperoxaluria Type 2

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46OMIM
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Clinical features from OMIM:

260000

Clinical synopsis from OMIM:

260000

Drugs & Therapeutics for Primary Hyperoxaluria Type 2

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

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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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20GeneTests, 22GTR
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Genetic tests related to Primary Hyperoxaluria Type 2:

id Genetic test Affiliating Genes
1 Hyperoxaluria, Primary, Type 220 GRHPR
2 Primary Hyperoxaluria, Type Ii22

Anatomical Context for Primary Hyperoxaluria Type 2

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32MalaCards
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MalaCards organs/tissues related to Primary Hyperoxaluria Type 2:

32
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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50PubMed
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Articles related to Primary Hyperoxaluria Type 2:

(show all 28)
idTitleAuthorsYear
1
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. (24116921)
2013
2
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. (22821680)
2012
3
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
4
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. (17510093)
2007
5
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. (16597637)
2006
6
Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2? (16820377)
2006
7
Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. (15580638)
2005
8
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. (16306119)
2005
9
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. (14635115)
2003
10
Primary hyperoxaluria type 2 in children. (12185464)
2002
11
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
12
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? (11477177)
2001
13
Recent developments in our understanding of primary hyperoxaluria type 2. (10541261)
1999
14
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
15
Primary hyperoxaluria type 2: enzymology. (9604806)
1998
16
Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. (9604813)
1998
17
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
18
Availability of assays for definitive diagnosis of primary hyperoxaluria types 1 and 2. (9510895)
1998
19
Primary hyperoxaluria type 2. (9243228)
1997
20
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (9090680)
1997
21
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (8865239)
1996
22
Primary hyperoxaluria type 2. (8592629)
1995
23
Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or end-stage renal failure. (8538930)
1995
24
End-stage renal failure in primary hyperoxaluria type 2. (8177288)
1994
25
Primary Hyperoxaluria Type 2 (20301742)
1993
26
High-performance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. (1458609)
1992
27
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease. (2516173)
1989
28
L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families. (6434867)
1984

Genetic Variations for Primary Hyperoxaluria Type 2

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Expression for genes affiliated with Primary Hyperoxaluria Type 2

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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 2

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Pathways for genes affiliated with Primary Hyperoxaluria Type 2

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Compounds for genes affiliated with Primary Hyperoxaluria Type 2

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nadph44 2410.1GSR, GRHPR
2nad28 2410.0GSR, GRHPR
3nadh44 11 2410.8GSR, GRHPR

GO Terms for genes affiliated with Primary Hyperoxaluria Type 2

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16Gene Ontology
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Biological processes related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

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

Products for genes affiliated with Primary Hyperoxaluria Type 2

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  • Antibodies
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Sources for Primary Hyperoxaluria Type 2

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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