HP2
MCID: PRM125
MIFTS: 41

Primary Hyperoxaluria Type 2 (HP2) malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases, Eye diseases categories
Download this MalaCard

Summaries for Primary Hyperoxaluria Type 2

About this section


Fully expand this MalaCard
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 based summary: Primary Hyperoxaluria Type 2, also known as glyoxylate reductase/hydroxypyruvate reductase deficiency, is related to primary hyperoxaluria and d-glyceric aciduria, and has symptoms including 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:46 260000

GeneReviews summary for ph2

Aliases & Classifications for Primary Hyperoxaluria Type 2

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Primary Hyperoxaluria Type 2, Aliases & Descriptions:

Name: Primary Hyperoxaluria Type 2 19 42 20 22 48 62
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 19 42 62
D-Glycerate Dehydrogenase Deficiency 19 42 48
Hyperoxaluria, Primary, Type Ii 46 44
 
L-Glyceric Aciduria 19 48
Glyceric Aciduria 42 62
Hp2 42 62
Oxalosis 2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
primary hyperoxaluria type 2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


External Ids:

OMIM46 260000
ICD10 via Orphanet26 E74.8

Related Diseases for Primary Hyperoxaluria Type 2

About this section

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
5west syndrome10.3
6d-glycericacidemia10.3
7malaria10.1
8primary hyperoxaluria type 110.1

Graphical network of diseases related to Primary Hyperoxaluria Type 2:



Diseases related to primary hyperoxaluria type 2

Symptoms for Primary Hyperoxaluria Type 2

About this section

Symptoms by clinical synopsis from OMIM:

260000

Clinical features from OMIM:

260000

HPO human phenotypes related to Primary Hyperoxaluria Type 2:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyperoxaluria HP:0003159
3 aminoaciduria HP:0003355
4 calcium oxalate nephrolithiasis HP:0008672

Drugs & Therapeutics for Primary Hyperoxaluria Type 2

About this section

Drug clinical trials:

Search ClinicalTrials for Primary Hyperoxaluria Type 2

Search NIH Clinical Center for Primary Hyperoxaluria Type 2

Genetic Tests for Primary Hyperoxaluria Type 2

About this section

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

About this section

MalaCards organs/tissues related to Primary Hyperoxaluria Type 2:

32
Kidney, Liver

Animal Models for Primary Hyperoxaluria Type 2 or affiliated genes

About this section

Publications for Primary Hyperoxaluria Type 2

About this section

Articles related to Primary Hyperoxaluria Type 2:

(show all 24)
idTitleAuthorsYear
1
Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2. (24597735)
2014
2
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. (24116921)
2013
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
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. (16306119)
2005
8
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. (14635115)
2003
9
Primary hyperoxaluria type 2 in children. (12185464)
2002
10
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
11
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? (11477177)
2001
12
Recent developments in our understanding of primary hyperoxaluria type 2. (10541261)
1999
13
Primary hyperoxaluria type 2: enzymology. (9604806)
1998
14
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
15
Primary hyperoxaluria type 2. (9243228)
1997
16
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (9090680)
1997
17
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (8865239)
1996
18
Primary hyperoxaluria type 2. (8592629)
1995
19
Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or end-stage renal failure. (8538930)
1995
20
End-stage renal failure in primary hyperoxaluria type 2. (8177288)
1994
21
Primary Hyperoxaluria Type 2 (20301742)
1993
22
High-performance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. (1458609)
1992
23
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease. (2516173)
1989
24
L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families. (6434867)
1984

Variations for Primary Hyperoxaluria Type 2

About this section

Clinvar genetic disease variations for Primary Hyperoxaluria Type 2:

6
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

About this section
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

About this section

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

About this section
Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1NADP249.1GRHPR, GSR
2nadph44 2410.1GRHPR, GSR
3nad28 2410.0GRHPR, GSR
4nadh44 24 1110.8GRHPR, GSR

GO Terms for genes affiliated with Primary Hyperoxaluria Type 2

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Primary Hyperoxaluria Type 2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet