HP2
MCID: PRM125
MIFTS: 27

Primary Hyperoxaluria Type 2 (HP2) malady

Nephrological, Metabolic categories

Summaries for Primary Hyperoxaluria Type 2

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 nephrocalcinosis. 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.

Description from OMIM:47 260000

GeneReviews summary for ph2

Aliases & Classifications for Primary Hyperoxaluria Type 2

Sources:
19GeneReviews, 43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 61UMLS, 47OMIM, 45Novoseek, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
primary hyperoxaluria type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

primary hyperoxaluria type 2 19 43 20 22 49 61
d-glycerate dehydrogenase deficiency 19 43 49
glyoxylate reductase/hydroxypyruvate reductase deficiency 19 43
hyperoxaluria, primary, type ii 47 45
l-glyceric aciduria 19 49
glyceric aciduria 43
oxalosis 2 43
hp2 43


External Ids:

OMIM47 260000
ICD10 via Orphanet26 E74.8

Related Diseases for Primary Hyperoxaluria Type 2

Sources:
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
2nephrocalcinosis10.4
3west syndrome10.2
4d-glycericacidemia10.2
5d-glyceric aciduria10.2
6primary 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

Sources:
47OMIM
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Clinical features from OMIM:

260000

Clinical synopsis from OMIM:

260000

Drugs & Therapeutics for Primary Hyperoxaluria Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Primary Hyperoxaluria Type 2:

33
Kidney

Animal Models for Primary Hyperoxaluria Type 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Primary Hyperoxaluria Type 2

Sources:
51PubMed
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Articles related to Primary Hyperoxaluria Type 2:

idTitleAuthorsYear
1
SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease. (15361574)
2004
2
Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1. (9365788)
1997

Genetic Variations for Primary Hyperoxaluria Type 2

Expression for genes affiliated with Primary Hyperoxaluria Type 2

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Primary Hyperoxaluria Type 2

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Primary Hyperoxaluria Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nadph45 2410.1GSR, GRHPR
2nad29 2410.0GSR, GRHPR
3nadh45 11 2410.8GSR, GRHPR

GO Terms for genes affiliated with Primary Hyperoxaluria Type 2

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Hyperoxaluria Type 2

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet