MCID: HYP602
MIFTS: 25

Hyperoxaluria, Primary, Type Ii malady

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

Summaries for Hyperoxaluria, Primary, Type Ii

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NIH Rare Diseases:41 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: Hyperoxaluria, Primary, Type Ii, also known as primary hyperoxaluria type 2, is related to primary hyperoxaluria and d-glyceric aciduria, and has symptoms including autosomal recessive inheritance, hyperoxaluria and aminoaciduria. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (glyoxylate reductase/hydroxypyruvate reductase). Affiliated tissues include kidney.

Description from OMIM:45 260000

GeneReviews summary for ph2

Aliases & Classifications for Hyperoxaluria, Primary, Type Ii

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Hyperoxaluria, Primary, Type Ii, Aliases & Descriptions:

Name: Hyperoxaluria, Primary, Type Ii 45 10 43
Primary Hyperoxaluria Type 2 19 41 20 47 22 60
D-Glycerate Dehydrogenase Deficiency 19 41 47
L-Glyceric Aciduria 19 41 47
 
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 19 41
Glyceric Aciduria 41
Oxalosis 2 41
Hp2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
primary hyperoxaluria type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age


External Ids:

OMIM45 260000
Orphanet47 93599
ICD10 via Orphanet26 E74.8

Related Diseases for Hyperoxaluria, Primary, Type Ii

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Diseases in the Primary Hyperoxaluria family:

hyperoxaluria, primary, type ii Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Primary, Type 1

Diseases related to Hyperoxaluria, Primary, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria11.0
2d-glyceric aciduria10.8
3end stage renal failure10.4
4nephrocalcinosis10.4
5west syndrome10.2
6d-glycericacidemia10.2
7malaria10.1
8hyperoxaluria, primary, type 110.1

Graphical network of diseases related to Hyperoxaluria, Primary, Type Ii:



Diseases related to hyperoxaluria, primary, type ii

Symptoms for Hyperoxaluria, Primary, Type Ii

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Symptoms by clinical synopsis from OMIM:

260000

Clinical features from OMIM:

260000

HPO human phenotypes related to Hyperoxaluria, Primary, Type Ii:

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 Hyperoxaluria, Primary, Type Ii

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Drug clinical trials:

Search ClinicalTrials for Hyperoxaluria, Primary, Type Ii

Search NIH Clinical Center for Hyperoxaluria, Primary, Type Ii

Genetic Tests for Hyperoxaluria, Primary, Type Ii

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Genetic tests related to Hyperoxaluria, Primary, Type Ii:

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

Anatomical Context for Hyperoxaluria, Primary, Type Ii

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MalaCards organs/tissues related to Hyperoxaluria, Primary, Type Ii:

31
Kidney

Animal Models for Hyperoxaluria, Primary, Type Ii or affiliated genes

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Publications for Hyperoxaluria, Primary, Type Ii

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Variations for Hyperoxaluria, Primary, Type Ii

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Clinvar genetic disease variations for Hyperoxaluria, Primary, Type Ii:

6
id Gene Variation 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 Hyperoxaluria, Primary, Type Ii

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Search GEO for disease gene expression data for Hyperoxaluria, Primary, Type Ii.

Pathways for genes affiliated with Hyperoxaluria, Primary, Type Ii

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Compounds for genes affiliated with Hyperoxaluria, Primary, Type Ii

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GO Terms for genes affiliated with Hyperoxaluria, Primary, Type Ii

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Products for genes affiliated with Hyperoxaluria, Primary, Type Ii

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Sources for Hyperoxaluria, Primary, Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet